Incidental Mutation 'R9616:Cfh'
| ID |
724552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfh
|
| Ensembl Gene |
ENSMUSG00000026365 |
| Gene Name |
complement component factor h |
| Synonyms |
Sas-1, Mud-1, Sas1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R9616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
140013593-140111149 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140030254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 891
(I891K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066859]
[ENSMUST00000111976]
[ENSMUST00000111977]
[ENSMUST00000123238]
[ENSMUST00000192880]
|
| AlphaFold |
P06909 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066859
AA Change: I873K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: I873K
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
21 |
80 |
7.75e-8 |
SMART |
|
CCP
|
85 |
141 |
2.17e-11 |
SMART |
|
CCP
|
146 |
205 |
7.5e-15 |
SMART |
|
CCP
|
210 |
262 |
6.29e-8 |
SMART |
|
CCP
|
267 |
320 |
2.04e-7 |
SMART |
|
CCP
|
325 |
385 |
6.35e-4 |
SMART |
|
CCP
|
389 |
442 |
1.15e-10 |
SMART |
|
CCP
|
448 |
505 |
3.62e-8 |
SMART |
|
CCP
|
509 |
564 |
6.45e-5 |
SMART |
|
CCP
|
569 |
622 |
5.56e-9 |
SMART |
|
CCP
|
629 |
683 |
3.45e-14 |
SMART |
|
CCP
|
690 |
743 |
1.82e-13 |
SMART |
|
CCP
|
752 |
802 |
6.59e-1 |
SMART |
|
CCP
|
808 |
861 |
1.04e-8 |
SMART |
|
CCP
|
867 |
931 |
4.66e-11 |
SMART |
|
CCP
|
936 |
989 |
3.9e-13 |
SMART |
|
CCP
|
994 |
1048 |
1.4e-14 |
SMART |
|
CCP
|
1053 |
1107 |
2.09e-13 |
SMART |
|
CCP
|
1114 |
1168 |
8.04e-15 |
SMART |
|
CCP
|
1172 |
1233 |
5.57e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111976
AA Change: I891K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: I891K
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
39 |
98 |
7.75e-8 |
SMART |
|
CCP
|
103 |
159 |
2.17e-11 |
SMART |
|
CCP
|
164 |
223 |
7.5e-15 |
SMART |
|
CCP
|
228 |
280 |
6.29e-8 |
SMART |
|
CCP
|
285 |
338 |
2.04e-7 |
SMART |
|
CCP
|
343 |
403 |
6.35e-4 |
SMART |
|
CCP
|
407 |
460 |
1.15e-10 |
SMART |
|
CCP
|
466 |
523 |
3.62e-8 |
SMART |
|
CCP
|
527 |
582 |
6.45e-5 |
SMART |
|
CCP
|
587 |
640 |
5.56e-9 |
SMART |
|
CCP
|
647 |
701 |
3.45e-14 |
SMART |
|
CCP
|
708 |
761 |
1.82e-13 |
SMART |
|
CCP
|
770 |
820 |
6.59e-1 |
SMART |
|
CCP
|
826 |
879 |
1.04e-8 |
SMART |
|
CCP
|
885 |
949 |
4.66e-11 |
SMART |
|
CCP
|
954 |
1007 |
3.9e-13 |
SMART |
|
CCP
|
1012 |
1066 |
1.4e-14 |
SMART |
|
CCP
|
1071 |
1125 |
2.09e-13 |
SMART |
|
CCP
|
1132 |
1186 |
8.04e-15 |
SMART |
|
CCP
|
1190 |
1251 |
5.57e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111977
AA Change: I834K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365
AA Change: I834K
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
21 |
80 |
7.75e-8 |
SMART |
|
CCP
|
85 |
141 |
2.17e-11 |
SMART |
|
CCP
|
146 |
205 |
7.5e-15 |
SMART |
|
CCP
|
210 |
262 |
6.29e-8 |
SMART |
|
CCP
|
267 |
320 |
2.04e-7 |
SMART |
|
CCP
|
325 |
385 |
6.35e-4 |
SMART |
|
CCP
|
389 |
442 |
1.15e-10 |
SMART |
|
CCP
|
448 |
505 |
3.62e-8 |
SMART |
|
CCP
|
509 |
564 |
6.45e-5 |
SMART |
|
CCP
|
572 |
626 |
3.45e-14 |
SMART |
|
CCP
|
633 |
686 |
1.82e-13 |
SMART |
|
CCP
|
695 |
745 |
6.59e-1 |
SMART |
|
CCP
|
751 |
804 |
1.04e-8 |
SMART |
|
CCP
|
810 |
874 |
4.66e-11 |
SMART |
|
CCP
|
879 |
932 |
3.9e-13 |
SMART |
|
CCP
|
937 |
991 |
1.4e-14 |
SMART |
|
CCP
|
996 |
1050 |
2.09e-13 |
SMART |
|
CCP
|
1057 |
1111 |
8.04e-15 |
SMART |
|
CCP
|
1115 |
1176 |
5.57e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123238
AA Change: I873K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365
AA Change: I873K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
CCP
|
21 |
80 |
7.75e-8 |
SMART |
|
CCP
|
85 |
141 |
2.17e-11 |
SMART |
|
CCP
|
146 |
205 |
7.5e-15 |
SMART |
|
CCP
|
210 |
262 |
6.29e-8 |
SMART |
|
CCP
|
267 |
320 |
2.04e-7 |
SMART |
|
CCP
|
325 |
385 |
6.35e-4 |
SMART |
|
CCP
|
389 |
442 |
1.15e-10 |
SMART |
|
CCP
|
448 |
505 |
3.62e-8 |
SMART |
|
CCP
|
509 |
564 |
6.45e-5 |
SMART |
|
CCP
|
569 |
622 |
5.56e-9 |
SMART |
|
CCP
|
629 |
683 |
3.45e-14 |
SMART |
|
CCP
|
690 |
743 |
1.82e-13 |
SMART |
|
CCP
|
752 |
802 |
6.59e-1 |
SMART |
|
CCP
|
808 |
861 |
1.04e-8 |
SMART |
|
CCP
|
867 |
931 |
4.66e-11 |
SMART |
|
CCP
|
936 |
989 |
3.9e-13 |
SMART |
|
CCP
|
994 |
1048 |
1.4e-14 |
SMART |
|
CCP
|
1053 |
1107 |
2.09e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192880
|
| SMART Domains |
Protein: ENSMUSP00000141209
Gene: ENSMUSG00000026365
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
CCP
|
39 |
98 |
3.9e-10 |
SMART |
|
CCP
|
103 |
159 |
1e-13 |
SMART |
|
CCP
|
164 |
223 |
3.7e-17 |
SMART |
|
CCP
|
228 |
280 |
3.1e-10 |
SMART |
|
CCP
|
285 |
338 |
9.9e-10 |
SMART |
|
CCP
|
343 |
403 |
3.2e-6 |
SMART |
|
CCP
|
407 |
460 |
5.6e-13 |
SMART |
|
CCP
|
467 |
521 |
6.7e-17 |
SMART |
|
CCP
|
526 |
580 |
1e-15 |
SMART |
|
CCP
|
587 |
641 |
3.8e-17 |
SMART |
|
CCP
|
645 |
706 |
2.7e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192919
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
| Other mutations in this stock |
Total: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040M04Rik |
T |
A |
1: 151,080,480 (GRCm39) |
D189E |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,240,501 (GRCm39) |
H788L |
probably benign |
Het |
| Abcb1b |
A |
G |
5: 8,862,779 (GRCm39) |
I154V |
probably benign |
Het |
| Acsm4 |
A |
G |
7: 119,293,872 (GRCm39) |
N81S |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,659,674 (GRCm39) |
H873Y |
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,268,020 (GRCm39) |
T200I |
possibly damaging |
Het |
| Arhgap33 |
A |
G |
7: 30,229,367 (GRCm39) |
V336A |
probably damaging |
Het |
| Brca1 |
C |
T |
11: 101,416,683 (GRCm39) |
E484K |
probably damaging |
Het |
| Capn13 |
T |
A |
17: 73,672,964 (GRCm39) |
D113V |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
G |
A |
7: 16,892,078 (GRCm39) |
E274K |
|
Het |
| Cgn |
A |
G |
3: 94,670,332 (GRCm39) |
S1041P |
probably damaging |
Het |
| Cldn18 |
T |
C |
9: 99,580,915 (GRCm39) |
D111G |
probably benign |
Het |
| Cnp |
G |
A |
11: 100,467,261 (GRCm39) |
R68Q |
probably benign |
Het |
| Cntn4 |
T |
A |
6: 106,674,525 (GRCm39) |
C1008* |
probably null |
Het |
| Cntnap5a |
T |
C |
1: 116,029,323 (GRCm39) |
I259T |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,319,529 (GRCm39) |
I2897T |
probably benign |
Het |
| Cyp2c39 |
T |
A |
19: 39,501,648 (GRCm39) |
L67Q |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
| Ddc |
C |
T |
11: 11,772,288 (GRCm39) |
W349* |
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,440,563 (GRCm39) |
E1198G |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,026,400 (GRCm39) |
D826G |
probably null |
Het |
| Dpp4 |
T |
C |
2: 62,217,429 (GRCm39) |
Y56C |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,295 (GRCm39) |
D350G |
possibly damaging |
Het |
| Fat1 |
C |
A |
8: 45,406,075 (GRCm39) |
P942Q |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,916,159 (GRCm39) |
F418L |
probably benign |
Het |
| Fbxo11 |
T |
A |
17: 88,316,098 (GRCm39) |
H368L |
|
Het |
| Fhl2 |
G |
T |
1: 43,167,546 (GRCm39) |
H182Q |
probably damaging |
Het |
| Gabpa |
T |
A |
16: 84,649,461 (GRCm39) |
C223S |
probably damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,356,326 (GRCm39) |
I803T |
unknown |
Het |
| Greb1 |
A |
T |
12: 16,790,038 (GRCm39) |
N3K |
probably damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,684,473 (GRCm39) |
S366R |
probably benign |
Het |
| Il17b |
A |
G |
18: 61,825,363 (GRCm39) |
Q133R |
probably benign |
Het |
| Inha |
T |
A |
1: 75,486,211 (GRCm39) |
S169T |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,650,055 (GRCm39) |
R243H |
probably benign |
Het |
| Kcnu1 |
G |
GA |
8: 26,403,675 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
A |
G |
13: 47,234,030 (GRCm39) |
E788G |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,370,308 (GRCm39) |
I1059N |
probably damaging |
Het |
| Klk1b9 |
G |
T |
7: 43,628,795 (GRCm39) |
G100C |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,899,994 (GRCm39) |
V565A |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,907,425 (GRCm39) |
N1650Y |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,719 (GRCm39) |
V270A |
probably benign |
Het |
| Lrrc15 |
A |
G |
16: 30,092,517 (GRCm39) |
L274P |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,643,255 (GRCm39) |
L885F |
probably benign |
Het |
| Mpst |
T |
A |
15: 78,294,361 (GRCm39) |
L31* |
probably null |
Het |
| Ms4a10 |
T |
C |
19: 10,944,440 (GRCm39) |
T115A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,923,263 (GRCm39) |
I1330T |
possibly damaging |
Het |
| Ncam2 |
T |
C |
16: 81,240,142 (GRCm39) |
I201T |
probably damaging |
Het |
| Nefh |
T |
A |
11: 4,889,443 (GRCm39) |
K1059* |
probably null |
Het |
| Nek1 |
T |
C |
8: 61,473,107 (GRCm39) |
Y168H |
probably damaging |
Het |
| Nek11 |
T |
A |
9: 105,082,011 (GRCm39) |
T531S |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,059,127 (GRCm39) |
P243S |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,512,193 (GRCm39) |
Y32H |
probably damaging |
Het |
| Notum |
G |
T |
11: 120,550,974 (GRCm39) |
T64K |
|
Het |
| Or13c7d |
T |
A |
4: 43,770,193 (GRCm39) |
K273* |
probably null |
Het |
| Or52b2 |
A |
C |
7: 104,986,520 (GRCm39) |
Y134* |
probably null |
Het |
| Or9i16 |
A |
G |
19: 13,864,861 (GRCm39) |
S238P |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,539,708 (GRCm39) |
I1035T |
possibly damaging |
Het |
| Otud3 |
A |
G |
4: 138,624,925 (GRCm39) |
Y259H |
probably benign |
Het |
| Per1 |
G |
T |
11: 68,993,554 (GRCm39) |
C368F |
probably damaging |
Het |
| Pitrm1 |
G |
T |
13: 6,605,602 (GRCm39) |
R183L |
probably damaging |
Het |
| Prl3a1 |
C |
T |
13: 27,459,118 (GRCm39) |
A119V |
|
Het |
| Pycard |
C |
T |
7: 127,592,776 (GRCm39) |
G17E |
probably benign |
Het |
| Rnf13 |
A |
G |
3: 57,740,430 (GRCm39) |
D249G |
possibly damaging |
Het |
| Sdhaf2 |
T |
C |
19: 10,494,689 (GRCm39) |
Y33C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,691,061 (GRCm39) |
V1838A |
probably benign |
Het |
| Sgo2b |
C |
T |
8: 64,380,274 (GRCm39) |
V853I |
probably benign |
Het |
| Slc1a4 |
T |
C |
11: 20,282,403 (GRCm39) |
T24A |
probably benign |
Het |
| Slc8a1 |
T |
C |
17: 81,955,407 (GRCm39) |
T544A |
probably benign |
Het |
| Sntg2 |
T |
C |
12: 30,326,732 (GRCm39) |
N143S |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,254,989 (GRCm39) |
E920G |
probably damaging |
Het |
| Srgap2 |
T |
A |
1: 131,252,828 (GRCm39) |
H132L |
|
Het |
| Srgap3 |
A |
T |
6: 112,748,524 (GRCm39) |
V376D |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,036,314 (GRCm39) |
K434E |
probably damaging |
Het |
| Tab2 |
A |
T |
10: 7,795,005 (GRCm39) |
N492K |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,037,246 (GRCm39) |
Q666R |
possibly damaging |
Het |
| Tekt4 |
T |
C |
17: 25,692,782 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
G |
A |
3: 154,667,724 (GRCm39) |
Q230* |
probably null |
Het |
| Trp53bp1 |
A |
C |
2: 121,066,657 (GRCm39) |
S690A |
probably benign |
Het |
| Trpa1 |
C |
A |
1: 14,989,077 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,858,132 (GRCm39) |
V324G |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,966,179 (GRCm39) |
E674G |
possibly damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,299 (GRCm39) |
R839G |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,724 (GRCm39) |
L667P |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,305 (GRCm39) |
F657L |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,824,701 (GRCm39) |
V2923A |
|
Het |
| Xylb |
T |
A |
9: 119,201,022 (GRCm39) |
L220Q |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,316,473 (GRCm39) |
T95M |
probably benign |
Het |
| Zfp263 |
C |
T |
16: 3,567,482 (GRCm39) |
P599L |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,789,639 (GRCm39) |
E1026G |
probably benign |
Het |
| Zfp78 |
A |
G |
7: 6,382,078 (GRCm39) |
N376S |
probably benign |
Het |
|
| Other mutations in Cfh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Cfh
|
APN |
1 |
140,016,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01124:Cfh
|
APN |
1 |
140,110,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01389:Cfh
|
APN |
1 |
140,082,377 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01455:Cfh
|
APN |
1 |
140,033,277 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01877:Cfh
|
APN |
1 |
140,028,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Cfh
|
APN |
1 |
140,030,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Cfh
|
APN |
1 |
140,033,180 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03039:Cfh
|
APN |
1 |
140,063,999 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03069:Cfh
|
APN |
1 |
140,026,793 (GRCm39) |
intron |
probably benign |
|
|
IGL03192:Cfh
|
APN |
1 |
140,026,759 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03201:Cfh
|
APN |
1 |
140,030,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Cfh
|
UTSW |
1 |
140,090,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Cfh
|
UTSW |
1 |
140,040,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Cfh
|
UTSW |
1 |
140,071,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0294:Cfh
|
UTSW |
1 |
140,110,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0571:Cfh
|
UTSW |
1 |
140,030,071 (GRCm39) |
splice site |
probably null |
|
|
R0576:Cfh
|
UTSW |
1 |
140,064,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0586:Cfh
|
UTSW |
1 |
140,110,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0605:Cfh
|
UTSW |
1 |
140,030,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Cfh
|
UTSW |
1 |
140,028,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0725:Cfh
|
UTSW |
1 |
140,085,081 (GRCm39) |
splice site |
probably benign |
|
|
R0853:Cfh
|
UTSW |
1 |
140,033,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Cfh
|
UTSW |
1 |
140,030,436 (GRCm39) |
splice site |
probably benign |
|
|
R1500:Cfh
|
UTSW |
1 |
140,028,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Cfh
|
UTSW |
1 |
140,028,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1667:Cfh
|
UTSW |
1 |
140,033,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1695:Cfh
|
UTSW |
1 |
140,030,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1728:Cfh
|
UTSW |
1 |
140,075,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1729:Cfh
|
UTSW |
1 |
140,064,526 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1729:Cfh
|
UTSW |
1 |
140,075,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1730:Cfh
|
UTSW |
1 |
140,075,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1739:Cfh
|
UTSW |
1 |
140,075,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1739:Cfh
|
UTSW |
1 |
140,064,526 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1756:Cfh
|
UTSW |
1 |
140,028,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Cfh
|
UTSW |
1 |
140,075,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1762:Cfh
|
UTSW |
1 |
140,064,526 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1783:Cfh
|
UTSW |
1 |
140,075,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1784:Cfh
|
UTSW |
1 |
140,075,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1785:Cfh
|
UTSW |
1 |
140,075,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1785:Cfh
|
UTSW |
1 |
140,064,526 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1912:Cfh
|
UTSW |
1 |
140,063,879 (GRCm39) |
splice site |
probably null |
|
|
R2273:Cfh
|
UTSW |
1 |
140,030,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2288:Cfh
|
UTSW |
1 |
140,026,639 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3725:Cfh
|
UTSW |
1 |
140,014,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3731:Cfh
|
UTSW |
1 |
140,047,708 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4060:Cfh
|
UTSW |
1 |
140,047,664 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4192:Cfh
|
UTSW |
1 |
140,030,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4226:Cfh
|
UTSW |
1 |
140,036,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Cfh
|
UTSW |
1 |
140,028,613 (GRCm39) |
nonsense |
probably null |
|
|
R4431:Cfh
|
UTSW |
1 |
140,064,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4712:Cfh
|
UTSW |
1 |
140,036,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Cfh
|
UTSW |
1 |
140,016,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Cfh
|
UTSW |
1 |
140,028,561 (GRCm39) |
nonsense |
probably null |
|
|
R4831:Cfh
|
UTSW |
1 |
140,014,125 (GRCm39) |
missense |
probably benign |
|
|
R5052:Cfh
|
UTSW |
1 |
140,071,782 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5181:Cfh
|
UTSW |
1 |
140,075,384 (GRCm39) |
splice site |
probably benign |
|
|
R5205:Cfh
|
UTSW |
1 |
140,071,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Cfh
|
UTSW |
1 |
140,028,636 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5366:Cfh
|
UTSW |
1 |
140,063,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5776:Cfh
|
UTSW |
1 |
140,071,761 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5914:Cfh
|
UTSW |
1 |
140,063,967 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5948:Cfh
|
UTSW |
1 |
140,036,546 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5979:Cfh
|
UTSW |
1 |
140,046,409 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6034:Cfh
|
UTSW |
1 |
140,090,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6034:Cfh
|
UTSW |
1 |
140,090,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6059:Cfh
|
UTSW |
1 |
140,046,428 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6198:Cfh
|
UTSW |
1 |
140,033,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Cfh
|
UTSW |
1 |
140,030,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6523:Cfh
|
UTSW |
1 |
140,029,445 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6610:Cfh
|
UTSW |
1 |
140,029,486 (GRCm39) |
nonsense |
probably null |
|
|
R6652:Cfh
|
UTSW |
1 |
140,071,806 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6852:Cfh
|
UTSW |
1 |
140,075,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Cfh
|
UTSW |
1 |
140,028,621 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6862:Cfh
|
UTSW |
1 |
140,030,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Cfh
|
UTSW |
1 |
140,014,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7191:Cfh
|
UTSW |
1 |
140,040,305 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7197:Cfh
|
UTSW |
1 |
140,016,505 (GRCm39) |
nonsense |
probably null |
|
|
R7355:Cfh
|
UTSW |
1 |
140,064,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Cfh
|
UTSW |
1 |
140,014,259 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7419:Cfh
|
UTSW |
1 |
140,033,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7579:Cfh
|
UTSW |
1 |
140,036,328 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7586:Cfh
|
UTSW |
1 |
140,075,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7985:Cfh
|
UTSW |
1 |
140,036,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8119:Cfh
|
UTSW |
1 |
140,047,753 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8277:Cfh
|
UTSW |
1 |
140,029,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Cfh
|
UTSW |
1 |
140,064,469 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8742:Cfh
|
UTSW |
1 |
140,029,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8743:Cfh
|
UTSW |
1 |
140,046,323 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8874:Cfh
|
UTSW |
1 |
140,014,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8909:Cfh
|
UTSW |
1 |
140,014,086 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8949:Cfh
|
UTSW |
1 |
140,026,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9126:Cfh
|
UTSW |
1 |
140,014,111 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9309:Cfh
|
UTSW |
1 |
140,082,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9441:Cfh
|
UTSW |
1 |
140,030,149 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9502:Cfh
|
UTSW |
1 |
140,040,320 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9544:Cfh
|
UTSW |
1 |
140,036,266 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9559:Cfh
|
UTSW |
1 |
140,030,275 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9617:Cfh
|
UTSW |
1 |
140,090,718 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9733:Cfh
|
UTSW |
1 |
140,016,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Cfh
|
UTSW |
1 |
140,090,687 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9788:Cfh
|
UTSW |
1 |
140,036,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
T0975:Cfh
|
UTSW |
1 |
140,082,336 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1088:Cfh
|
UTSW |
1 |
140,075,456 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1088:Cfh
|
UTSW |
1 |
140,036,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Cfh
|
UTSW |
1 |
140,071,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCATGTCACTCTCACCAACACAG -3'
(R):5'- TGGCAGTCATTACCTCGCTG -3'
Sequencing Primer
(F):5'- TCACCAACACAGCGAGGTGG -3'
(R):5'- ACCTCGCTGCATTGGTCAGTAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation