Incidental Mutation 'R7184:Cfhr4'
ID |
559150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfhr4
|
Ensembl Gene |
ENSMUSG00000070594 |
Gene Name |
complement factor H-related 4 |
Synonyms |
Gm4788 |
MMRRC Submission |
045236-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R7184 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139660822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 622
(V622A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107620
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
AlphaFold |
E9Q8B5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027612
|
SMART Domains |
Protein: ENSMUSP00000027612 Gene: ENSMUSG00000070594
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 |
possibly damaging
Transcript: ENSMUST00000111986
AA Change: V622A
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107617 Gene: ENSMUSG00000070594 AA Change: V622A
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 |
possibly damaging
Transcript: ENSMUST00000111989
AA Change: V622A
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107620 Gene: ENSMUSG00000070594 AA Change: V622A
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 |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
G |
6: 23,094,219 (GRCm39) |
S500P |
possibly damaging |
Het |
Aldh9a1 |
T |
A |
1: 167,184,965 (GRCm39) |
N292K |
probably benign |
Het |
Art2b |
A |
T |
7: 101,229,658 (GRCm39) |
S80R |
probably benign |
Het |
Atp6v1b2 |
G |
T |
8: 69,555,219 (GRCm39) |
A194S |
possibly damaging |
Het |
Bsnd |
T |
C |
4: 106,349,109 (GRCm39) |
M44V |
probably damaging |
Het |
Cadps2 |
A |
T |
6: 23,583,428 (GRCm39) |
V383E |
probably benign |
Het |
Cd93 |
T |
C |
2: 148,284,459 (GRCm39) |
T296A |
possibly damaging |
Het |
Cdk15 |
G |
T |
1: 59,304,814 (GRCm39) |
E138D |
probably benign |
Het |
Cdon |
A |
G |
9: 35,375,191 (GRCm39) |
I406V |
probably benign |
Het |
Cyp3a41a |
A |
G |
5: 145,642,663 (GRCm39) |
V232A |
probably benign |
Het |
Dbndd1 |
T |
A |
8: 124,235,860 (GRCm39) |
D130V |
probably damaging |
Het |
Dnah14 |
C |
T |
1: 181,532,094 (GRCm39) |
R2294* |
probably null |
Het |
Eddm3b |
A |
G |
14: 51,354,387 (GRCm39) |
Y125C |
probably damaging |
Het |
Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
Enah |
A |
T |
1: 181,749,957 (GRCm39) |
V294E |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,531,137 (GRCm39) |
E545G |
probably damaging |
Het |
Farsb |
T |
C |
1: 78,458,994 (GRCm39) |
E22G |
possibly damaging |
Het |
Fcsk |
G |
A |
8: 111,613,788 (GRCm39) |
P758S |
probably damaging |
Het |
Fezf1 |
A |
G |
6: 23,247,835 (GRCm39) |
V80A |
probably benign |
Het |
Fpr2 |
T |
C |
17: 18,113,533 (GRCm39) |
Y39H |
unknown |
Het |
Fsd1l |
C |
A |
4: 53,694,054 (GRCm39) |
R344S |
probably damaging |
Het |
Fxyd1 |
G |
T |
7: 30,751,401 (GRCm39) |
R90S |
unknown |
Het |
Galnt4 |
T |
A |
10: 98,944,466 (GRCm39) |
Y64N |
probably damaging |
Het |
Gatb |
C |
T |
3: 85,544,258 (GRCm39) |
Q409* |
probably null |
Het |
Glipr2 |
A |
C |
4: 43,968,667 (GRCm39) |
D73A |
possibly damaging |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gpr88 |
C |
T |
3: 116,045,643 (GRCm39) |
V223I |
possibly damaging |
Het |
Gtf2h3 |
A |
G |
5: 124,722,067 (GRCm39) |
N55S |
probably benign |
Het |
Htr4 |
T |
A |
18: 62,570,498 (GRCm39) |
C184* |
probably null |
Het |
Ighv6-3 |
T |
A |
12: 114,355,475 (GRCm39) |
R71S |
probably benign |
Het |
Itpr2 |
G |
C |
6: 146,212,585 (GRCm39) |
I1510M |
possibly damaging |
Het |
Keap1 |
T |
C |
9: 21,145,134 (GRCm39) |
Q292R |
probably benign |
Het |
Mab21l4 |
T |
C |
1: 93,082,237 (GRCm39) |
N294S |
probably benign |
Het |
Malt1 |
A |
C |
18: 65,580,764 (GRCm39) |
E219D |
probably benign |
Het |
Manba |
T |
C |
3: 135,228,915 (GRCm39) |
V279A |
possibly damaging |
Het |
Map4k5 |
T |
A |
12: 69,921,095 (GRCm39) |
H41L |
probably benign |
Het |
Mcm2 |
T |
G |
6: 88,868,776 (GRCm39) |
Y327S |
probably damaging |
Het |
Nectin3 |
A |
G |
16: 46,215,484 (GRCm39) |
I503T |
possibly damaging |
Het |
Nqo1 |
T |
C |
8: 108,119,279 (GRCm39) |
I99M |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,540,582 (GRCm39) |
H845R |
probably damaging |
Het |
Otogl |
C |
T |
10: 107,599,061 (GRCm39) |
C2254Y |
probably damaging |
Het |
Pmm1 |
T |
C |
15: 81,840,415 (GRCm39) |
N110S |
probably damaging |
Het |
Poc1b |
G |
T |
10: 98,970,199 (GRCm39) |
C68F |
probably benign |
Het |
Polr1b |
A |
G |
2: 128,965,842 (GRCm39) |
Y828C |
possibly damaging |
Het |
Prl3d1 |
A |
G |
13: 27,282,619 (GRCm39) |
H119R |
probably damaging |
Het |
Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,194 (GRCm39) |
E196G |
possibly damaging |
Het |
Sf3a3 |
A |
G |
4: 124,608,772 (GRCm39) |
K29E |
probably benign |
Het |
Slc13a1 |
A |
T |
6: 24,092,311 (GRCm39) |
I475K |
probably damaging |
Het |
Slc26a5 |
G |
T |
5: 22,042,244 (GRCm39) |
Y237* |
probably null |
Het |
Slc7a14 |
C |
T |
3: 31,281,212 (GRCm39) |
G366D |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,107,110 (GRCm39) |
V482A |
probably benign |
Het |
Tdrd5 |
G |
T |
1: 156,087,505 (GRCm39) |
Q883K |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,179,391 (GRCm39) |
Y1258C |
probably damaging |
Het |
Upf2 |
A |
G |
2: 6,028,131 (GRCm39) |
D739G |
unknown |
Het |
Vmn1r122 |
A |
T |
7: 20,867,820 (GRCm39) |
F78L |
probably benign |
Het |
Vmn1r75 |
A |
T |
7: 11,614,915 (GRCm39) |
K216* |
probably null |
Het |
Vmn2r11 |
A |
T |
5: 109,201,281 (GRCm39) |
Y408N |
probably damaging |
Het |
Wscd1 |
T |
A |
11: 71,679,543 (GRCm39) |
V472D |
probably damaging |
Het |
Zdbf2 |
G |
T |
1: 63,345,664 (GRCm39) |
V1348F |
possibly damaging |
Het |
Zfp442 |
G |
T |
2: 150,250,056 (GRCm39) |
H615Q |
possibly damaging |
Het |
Zfp457 |
C |
A |
13: 67,442,065 (GRCm39) |
C170F |
possibly damaging |
Het |
Zscan10 |
A |
G |
17: 23,826,003 (GRCm39) |
|
probably null |
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 |
|
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'- ACAAGAGTGGGTGAATTCTATAGAC -3'
(R):5'- TCACTGCATTGGTCAGTAGC -3'
Sequencing Primer
(F):5'- GCAGCATAGATTGAATTATGCAAG -3'
(R):5'- CACTGCATTGGTCAGTAGCTATGAC -3'
|
Posted On |
2019-06-26 |