Incidental Mutation 'R0131:Cfhr4'
| ID |
68261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr4
|
| Ensembl Gene |
ENSMUSG00000070594 |
| Gene Name |
complement factor H-related 4 |
| Synonyms |
Gm4788 |
| MMRRC Submission |
038416-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0131 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139682009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 196
(T196S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
| AlphaFold |
E9Q8B5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027612
AA Change: T196S
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: T196S
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
28 |
88 |
1.65e-2 |
SMART |
|
CCP
|
92 |
145 |
1.15e-10 |
SMART |
|
CCP
|
151 |
208 |
5.65e-10 |
SMART |
|
CCP
|
212 |
267 |
1.12e-4 |
SMART |
|
CCP
|
272 |
325 |
4.52e-9 |
SMART |
|
CCP
|
332 |
386 |
9.1e-14 |
SMART |
|
CCP
|
393 |
446 |
1.58e-13 |
SMART |
|
CCP
|
455 |
505 |
4.92e-1 |
SMART |
|
CCP
|
511 |
564 |
8.9e-8 |
SMART |
|
CCP
|
569 |
622 |
4.18e-13 |
SMART |
|
CCP
|
627 |
681 |
3.5e-15 |
SMART |
|
CCP
|
688 |
742 |
5.69e-15 |
SMART |
|
CCP
|
746 |
807 |
2.77e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111986
AA Change: T196S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: T196S
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
28 |
88 |
1.65e-2 |
SMART |
|
CCP
|
92 |
145 |
1.15e-10 |
SMART |
|
CCP
|
151 |
208 |
5.65e-10 |
SMART |
|
CCP
|
212 |
267 |
1.12e-4 |
SMART |
|
CCP
|
272 |
325 |
4.52e-9 |
SMART |
|
CCP
|
333 |
387 |
9.1e-14 |
SMART |
|
CCP
|
394 |
447 |
1.58e-13 |
SMART |
|
CCP
|
456 |
506 |
4.92e-1 |
SMART |
|
CCP
|
512 |
565 |
8.9e-8 |
SMART |
|
CCP
|
571 |
635 |
2.66e-6 |
SMART |
|
CCP
|
640 |
693 |
4.18e-13 |
SMART |
|
CCP
|
700 |
754 |
5.69e-15 |
SMART |
|
CCP
|
758 |
819 |
2.77e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111989
AA Change: T196S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: T196S
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
28 |
88 |
1.65e-2 |
SMART |
|
CCP
|
92 |
145 |
1.15e-10 |
SMART |
|
CCP
|
151 |
208 |
5.65e-10 |
SMART |
|
CCP
|
212 |
267 |
1.12e-4 |
SMART |
|
CCP
|
272 |
325 |
4.52e-9 |
SMART |
|
CCP
|
333 |
387 |
9.1e-14 |
SMART |
|
CCP
|
394 |
447 |
1.58e-13 |
SMART |
|
CCP
|
456 |
506 |
4.92e-1 |
SMART |
|
CCP
|
512 |
565 |
8.9e-8 |
SMART |
|
CCP
|
571 |
635 |
2.66e-6 |
SMART |
|
CCP
|
640 |
693 |
4.18e-13 |
SMART |
|
CCP
|
698 |
752 |
3.5e-15 |
SMART |
|
CCP
|
759 |
813 |
5.69e-15 |
SMART |
|
CCP
|
817 |
878 |
2.77e0 |
SMART |
|
| Meta Mutation Damage Score |
0.5500 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,258,197 (GRCm39) |
I773T |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,260,960 (GRCm39) |
I1057N |
possibly damaging |
Het |
| Anxa5 |
G |
A |
3: 36,504,821 (GRCm39) |
A247V |
probably damaging |
Het |
| Ascc3 |
T |
G |
10: 50,611,425 (GRCm39) |
W1589G |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,770,743 (GRCm39) |
P389S |
probably damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,824,851 (GRCm39) |
S9T |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,442,783 (GRCm39) |
V589A |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,671,713 (GRCm39) |
M1V |
probably null |
Het |
| Col16a1 |
T |
A |
4: 129,960,889 (GRCm39) |
V449E |
unknown |
Het |
| Cttnbp2nl |
T |
G |
3: 104,913,173 (GRCm39) |
K237T |
probably damaging |
Het |
| Dazap1 |
T |
G |
10: 80,114,060 (GRCm39) |
|
probably null |
Het |
| Fam187b |
T |
A |
7: 30,688,545 (GRCm39) |
V22E |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,164,037 (GRCm39) |
S3073T |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,837,040 (GRCm39) |
R320G |
probably damaging |
Het |
| Gm16069 |
T |
C |
3: 89,088,232 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,325,878 (GRCm39) |
I238F |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,471,087 (GRCm39) |
E2658G |
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,388,192 (GRCm39) |
I3826L |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,211,060 (GRCm39) |
C67R |
probably damaging |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,198 (GRCm39) |
Y3094H |
probably damaging |
Het |
| Htr1f |
A |
G |
16: 64,747,091 (GRCm39) |
V67A |
probably damaging |
Het |
| Iqcc |
T |
G |
4: 129,510,392 (GRCm39) |
E374D |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,153,765 (GRCm39) |
T120A |
probably damaging |
Het |
| Kif3a |
A |
G |
11: 53,477,743 (GRCm39) |
K404R |
possibly damaging |
Het |
| Kitl |
C |
T |
10: 99,923,226 (GRCm39) |
P208S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,077,093 (GRCm39) |
Y479C |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,371,016 (GRCm39) |
N227S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,163,473 (GRCm39) |
V1007D |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,812,819 (GRCm39) |
I571S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,183,014 (GRCm39) |
N659D |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,320,296 (GRCm39) |
V240A |
probably benign |
Het |
| Nap1l1 |
T |
C |
10: 111,321,370 (GRCm39) |
S37P |
probably benign |
Het |
| Nin |
T |
G |
12: 70,097,915 (GRCm39) |
K515T |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,384,864 (GRCm39) |
K258* |
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,480,569 (GRCm39) |
S98T |
possibly damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,152 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5k14 |
C |
A |
16: 58,693,269 (GRCm39) |
M81I |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,844 (GRCm39) |
I92M |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,058,577 (GRCm39) |
|
probably benign |
Het |
| Ppox |
C |
A |
1: 171,106,849 (GRCm39) |
A192S |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,531,517 (GRCm39) |
L1380S |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,295,363 (GRCm39) |
A839E |
probably damaging |
Het |
| Ptprn2 |
T |
G |
12: 116,685,711 (GRCm39) |
F57V |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 162,120,030 (GRCm39) |
V146I |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,334,322 (GRCm39) |
M915K |
probably damaging |
Het |
| Rab26 |
C |
T |
17: 24,749,759 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,681,673 (GRCm39) |
K407E |
probably damaging |
Het |
| Siah3 |
G |
A |
14: 75,693,574 (GRCm39) |
V27I |
possibly damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,235,338 (GRCm39) |
N280Y |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,862,786 (GRCm39) |
Y247C |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Slc35d1 |
C |
T |
4: 103,065,378 (GRCm39) |
V189I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,067,884 (GRCm39) |
R322* |
probably null |
Het |
| Stac3 |
A |
T |
10: 127,339,519 (GRCm39) |
R138S |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,026,751 (GRCm39) |
I73T |
probably benign |
Het |
| Tgtp1 |
A |
G |
11: 48,878,159 (GRCm39) |
F182S |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,381,437 (GRCm39) |
|
probably benign |
Het |
| Tmem116 |
A |
G |
5: 121,631,845 (GRCm39) |
|
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,720,779 (GRCm39) |
C306* |
probably null |
Het |
| Tspyl1 |
A |
G |
10: 34,159,085 (GRCm39) |
N270S |
probably damaging |
Het |
| Tusc1 |
A |
T |
4: 93,223,070 (GRCm39) |
H196Q |
probably benign |
Het |
| Ugt2a1 |
T |
A |
5: 87,622,720 (GRCm39) |
K293* |
probably null |
Het |
| Vmn2r102 |
A |
C |
17: 19,899,025 (GRCm39) |
T456P |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,511 (GRCm39) |
S139R |
probably benign |
Het |
| Zfp879 |
C |
A |
11: 50,724,426 (GRCm39) |
G210V |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,180,715 (GRCm39) |
N876D |
probably benign |
Het |
|
| Other mutations in Cfhr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Cfhr4
|
APN |
1 |
139,659,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01088:Cfhr4
|
APN |
1 |
139,625,823 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01419:Cfhr4
|
APN |
1 |
139,667,382 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01552:Cfhr4
|
APN |
1 |
139,667,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Cfhr4
|
APN |
1 |
139,666,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02032:Cfhr4
|
APN |
1 |
139,702,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02254:Cfhr4
|
APN |
1 |
139,661,143 (GRCm39) |
splice site |
probably benign |
|
|
IGL02318:Cfhr4
|
APN |
1 |
139,708,835 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02527:Cfhr4
|
APN |
1 |
139,680,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02531:Cfhr4
|
APN |
1 |
139,702,307 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02587:Cfhr4
|
APN |
1 |
139,629,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Cfhr4
|
APN |
1 |
139,708,905 (GRCm39) |
start codon destroyed |
probably null |
0.63 |
|
IGL02852:Cfhr4
|
APN |
1 |
139,701,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02963:Cfhr4
|
APN |
1 |
139,659,334 (GRCm39) |
nonsense |
probably null |
|
|
IGL03084:Cfhr4
|
APN |
1 |
139,708,880 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0131:Cfhr4
|
UTSW |
1 |
139,682,009 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0132:Cfhr4
|
UTSW |
1 |
139,682,009 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0549:Cfhr4
|
UTSW |
1 |
139,667,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Cfhr4
|
UTSW |
1 |
139,667,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0610:Cfhr4
|
UTSW |
1 |
139,629,584 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1341:Cfhr4
|
UTSW |
1 |
139,660,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1460:Cfhr4
|
UTSW |
1 |
139,625,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1544:Cfhr4
|
UTSW |
1 |
139,664,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Cfhr4
|
UTSW |
1 |
139,702,398 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2032:Cfhr4
|
UTSW |
1 |
139,660,993 (GRCm39) |
splice site |
probably benign |
|
|
R2111:Cfhr4
|
UTSW |
1 |
139,702,417 (GRCm39) |
splice site |
probably benign |
|
|
R2179:Cfhr4
|
UTSW |
1 |
139,659,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Cfhr4
|
UTSW |
1 |
139,680,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Cfhr4
|
UTSW |
1 |
139,660,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Cfhr4
|
UTSW |
1 |
139,625,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Cfhr4
|
UTSW |
1 |
139,661,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Cfhr4
|
UTSW |
1 |
139,702,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4910:Cfhr4
|
UTSW |
1 |
139,702,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Cfhr4
|
UTSW |
1 |
139,702,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Cfhr4
|
UTSW |
1 |
139,664,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5120:Cfhr4
|
UTSW |
1 |
139,680,841 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5259:Cfhr4
|
UTSW |
1 |
139,668,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5504:Cfhr4
|
UTSW |
1 |
139,629,558 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5825:Cfhr4
|
UTSW |
1 |
139,702,336 (GRCm39) |
splice site |
probably null |
|
|
R5949:Cfhr4
|
UTSW |
1 |
139,660,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6140:Cfhr4
|
UTSW |
1 |
139,660,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6200:Cfhr4
|
UTSW |
1 |
139,682,073 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6254:Cfhr4
|
UTSW |
1 |
139,682,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6255:Cfhr4
|
UTSW |
1 |
139,680,749 (GRCm39) |
nonsense |
probably null |
|
|
R6334:Cfhr4
|
UTSW |
1 |
139,701,662 (GRCm39) |
splice site |
probably null |
|
|
R6611:Cfhr4
|
UTSW |
1 |
139,660,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Cfhr4
|
UTSW |
1 |
139,625,859 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6800:Cfhr4
|
UTSW |
1 |
139,629,719 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6895:Cfhr4
|
UTSW |
1 |
139,668,210 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6904:Cfhr4
|
UTSW |
1 |
139,659,391 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6994:Cfhr4
|
UTSW |
1 |
139,664,668 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7173:Cfhr4
|
UTSW |
1 |
139,659,415 (GRCm39) |
nonsense |
probably null |
|
|
R7184:Cfhr4
|
UTSW |
1 |
139,660,822 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7192:Cfhr4
|
UTSW |
1 |
139,667,033 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7205:Cfhr4
|
UTSW |
1 |
139,680,788 (GRCm39) |
nonsense |
probably null |
|
|
R7302:Cfhr4
|
UTSW |
1 |
139,667,436 (GRCm39) |
splice site |
probably null |
|
|
R7308:Cfhr4
|
UTSW |
1 |
139,682,041 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7735:Cfhr4
|
UTSW |
1 |
139,660,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8006:Cfhr4
|
UTSW |
1 |
139,664,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8045:Cfhr4
|
UTSW |
1 |
139,661,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8188:Cfhr4
|
UTSW |
1 |
139,625,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Cfhr4
|
UTSW |
1 |
139,660,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:Cfhr4
|
UTSW |
1 |
139,660,085 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9339:Cfhr4
|
UTSW |
1 |
139,682,044 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9520:Cfhr4
|
UTSW |
1 |
139,682,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9525:Cfhr4
|
UTSW |
1 |
139,702,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Cfhr4
|
UTSW |
1 |
139,668,169 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9635:Cfhr4
|
UTSW |
1 |
139,701,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9669:Cfhr4
|
UTSW |
1 |
139,708,872 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9737:Cfhr4
|
UTSW |
1 |
139,708,872 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0009:Cfhr4
|
UTSW |
1 |
139,661,287 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0024:Cfhr4
|
UTSW |
1 |
139,661,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cfhr4
|
UTSW |
1 |
139,681,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Cfhr4
|
UTSW |
1 |
139,661,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cfhr4
|
UTSW |
1 |
139,625,994 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCATCATGCTTTCAGGGAGTTG -3'
(R):5'- GCTAGTGCTTGAGATTGGAAAACTGC -3'
Sequencing Primer
(F):5'- GCAGCTCTTCAAAGACTTCTTCAC -3'
(R):5'- GTAAATCCTTAAGCTGCTGTGC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation