Incidental Mutation 'R9520:Cfhr4'
| ID |
718794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr4
|
| Ensembl Gene |
ENSMUSG00000070594 |
| Gene Name |
complement factor H-related 4 |
| Synonyms |
Gm4788 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R9520 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139682135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 154
(S154P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
| AlphaFold |
E9Q8B5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027612
AA Change: S154P
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: S154P
| 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: S154P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: S154P
| 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: S154P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: S154P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Ackr3 |
T |
A |
1: 90,141,971 (GRCm39) |
Y143* |
probably null |
Het |
| Actn1 |
A |
T |
12: 80,240,417 (GRCm39) |
D223E |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,083,190 (GRCm39) |
T340I |
possibly damaging |
Het |
| B4galnt1 |
G |
A |
10: 127,006,580 (GRCm39) |
E375K |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,651,799 (GRCm39) |
S127T |
probably damaging |
Het |
| Cbr3 |
A |
G |
16: 93,487,318 (GRCm39) |
D167G |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,012,736 (GRCm39) |
N270K |
possibly damaging |
Het |
| Cep131 |
A |
G |
11: 119,968,157 (GRCm39) |
V128A |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,625,121 (GRCm39) |
E320G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,079,954 (GRCm39) |
L755* |
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,414,763 (GRCm39) |
L377Q |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,281,413 (GRCm39) |
D498V |
probably damaging |
Het |
| Csad |
A |
G |
15: 102,097,102 (GRCm39) |
M1T |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,561,608 (GRCm39) |
F1323L |
|
Het |
| Dennd2c |
A |
T |
3: 103,044,484 (GRCm39) |
Q355L |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,750,842 (GRCm39) |
S475N |
possibly damaging |
Het |
| Foxi3 |
A |
G |
6: 70,937,676 (GRCm39) |
S303G |
probably damaging |
Het |
| Glra1 |
G |
C |
11: 55,405,897 (GRCm39) |
F372L |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,262,637 (GRCm39) |
E858G |
probably benign |
Het |
| Gm7168 |
T |
A |
17: 14,169,506 (GRCm39) |
V291D |
probably benign |
Het |
| Gpr15lg |
T |
A |
14: 36,829,343 (GRCm39) |
T47S |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,399 (GRCm39) |
Y1049C |
probably damaging |
Het |
| Grm2 |
A |
G |
9: 106,525,230 (GRCm39) |
L24P |
|
Het |
| Guca1a |
T |
A |
17: 47,711,335 (GRCm39) |
I4F |
probably benign |
Het |
| H6pd |
T |
C |
4: 150,080,375 (GRCm39) |
I157V |
possibly damaging |
Het |
| Hectd3 |
T |
A |
4: 116,857,882 (GRCm39) |
M605K |
probably damaging |
Het |
| Hsf2 |
T |
A |
10: 57,371,996 (GRCm39) |
N32K |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,972 (GRCm39) |
V337D |
probably damaging |
Het |
| Iigp1 |
A |
T |
18: 60,523,451 (GRCm39) |
T190S |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,393,869 (GRCm39) |
R622G |
probably benign |
Het |
| Lce1a1 |
A |
T |
3: 92,554,109 (GRCm39) |
C122S |
unknown |
Het |
| Lrfn4 |
C |
T |
19: 4,664,237 (GRCm39) |
R99H |
probably damaging |
Het |
| Lsm1 |
T |
A |
8: 26,283,744 (GRCm39) |
V52E |
possibly damaging |
Het |
| Malrd1 |
G |
A |
2: 16,079,631 (GRCm39) |
V1783I |
unknown |
Het |
| Mast4 |
T |
C |
13: 102,925,532 (GRCm39) |
K464R |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,304,555 (GRCm39) |
D115G |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,441,131 (GRCm39) |
H507Q |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,497,705 (GRCm39) |
M956L |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,062,753 (GRCm39) |
T346A |
possibly damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,146,381 (GRCm39) |
I140V |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,804,709 (GRCm39) |
L144P |
probably damaging |
Het |
| Or2a25 |
T |
C |
6: 42,889,051 (GRCm39) |
V198A |
probably damaging |
Het |
| Or8d2b |
C |
T |
9: 38,789,039 (GRCm39) |
T189I |
probably benign |
Het |
| Pck1 |
G |
A |
2: 172,997,854 (GRCm39) |
V308M |
probably damaging |
Het |
| Phip |
C |
T |
9: 82,753,437 (GRCm39) |
R1769K |
possibly damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,906,822 (GRCm39) |
C635S |
|
Het |
| Ppp4r4 |
A |
G |
12: 103,500,378 (GRCm39) |
I58V |
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,456,289 (GRCm39) |
Y170C |
probably damaging |
Het |
| Rnf145 |
A |
T |
11: 44,452,336 (GRCm39) |
E438D |
possibly damaging |
Het |
| Rnf207 |
T |
C |
4: 152,396,234 (GRCm39) |
Y510C |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,101,903 (GRCm39) |
C111Y |
probably damaging |
Het |
| Scaf8 |
C |
T |
17: 3,248,285 (GRCm39) |
R1203W |
probably damaging |
Het |
| Sec23a |
T |
G |
12: 59,031,974 (GRCm39) |
I448L |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,843,227 (GRCm39) |
Y492C |
possibly damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,268,181 (GRCm39) |
K555E |
probably damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,724,696 (GRCm39) |
S372P |
probably damaging |
Het |
| Tgm1 |
A |
G |
14: 55,942,296 (GRCm39) |
F685S |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,455 (GRCm39) |
T350A |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,830,066 (GRCm39) |
Y28* |
probably null |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,993 (GRCm39) |
I564L |
probably benign |
Het |
| Wdr26 |
G |
T |
1: 181,036,587 (GRCm39) |
T183K |
probably benign |
Het |
| Yjefn3 |
A |
T |
8: 70,341,969 (GRCm39) |
Y97N |
probably damaging |
Het |
| Zbtb38 |
A |
T |
9: 96,568,104 (GRCm39) |
D993E |
probably damaging |
Het |
| Zbtb45 |
T |
C |
7: 12,742,012 (GRCm39) |
Q82R |
probably damaging |
Het |
| Zdhhc8 |
A |
G |
16: 18,045,044 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp648 |
A |
G |
1: 154,081,221 (GRCm39) |
D460G |
probably benign |
Het |
| Zfp760 |
T |
G |
17: 21,941,036 (GRCm39) |
N70K |
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 |
|
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 |
|
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'- CACTAATGCATGAGGGTTGAGGTG -3'
(R):5'- TTGAGTGTTCAGAATCTCAGATGAC -3'
Sequencing Primer
(F):5'- AGGTGACCATCCATTTTGAAGGC -3'
(R):5'- GTTCAGAATCTCAGATGACTATGATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation