Incidental Mutation 'R0558:Cfhr4'
ID |
45693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfhr4
|
Ensembl Gene |
ENSMUSG00000070594 |
Gene Name |
complement factor H-related 4 |
Synonyms |
Gm4788 |
MMRRC Submission |
038750-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R0558 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139667230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 376
(V376A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
AlphaFold |
E9Q8B5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027612
AA Change: V376A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027612 Gene: ENSMUSG00000070594 AA Change: V376A
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: V377A
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107617 Gene: ENSMUSG00000070594 AA Change: V377A
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: V377A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107620 Gene: ENSMUSG00000070594 AA Change: V377A
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 |
0.1750 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
G |
A |
19: 43,789,163 (GRCm39) |
G273R |
probably benign |
Het |
Adamts10 |
T |
C |
17: 33,769,583 (GRCm39) |
V935A |
probably benign |
Het |
Anapc15-ps |
T |
C |
10: 95,508,983 (GRCm39) |
D90G |
probably damaging |
Het |
Atic |
T |
A |
1: 71,602,947 (GRCm39) |
V107E |
probably benign |
Het |
Atp4b |
T |
C |
8: 13,443,523 (GRCm39) |
T52A |
possibly damaging |
Het |
Cacna1h |
C |
T |
17: 25,600,524 (GRCm39) |
A1606T |
probably damaging |
Het |
Cacng6 |
T |
A |
7: 3,483,324 (GRCm39) |
Y217* |
probably null |
Het |
Cc2d2a |
T |
G |
5: 43,881,729 (GRCm39) |
|
probably benign |
Het |
Cd226 |
T |
A |
18: 89,225,338 (GRCm39) |
H78Q |
probably benign |
Het |
Cers3 |
A |
G |
7: 66,433,166 (GRCm39) |
D161G |
probably damaging |
Het |
Ces1f |
T |
C |
8: 94,002,017 (GRCm39) |
H37R |
probably benign |
Het |
Chek1 |
T |
A |
9: 36,623,411 (GRCm39) |
N421I |
possibly damaging |
Het |
Cibar1 |
T |
C |
4: 12,164,095 (GRCm39) |
D248G |
probably damaging |
Het |
Cma2 |
T |
C |
14: 56,210,249 (GRCm39) |
Y45H |
probably damaging |
Het |
Cmas |
C |
A |
6: 142,720,970 (GRCm39) |
Y401* |
probably null |
Het |
Cyp2j8 |
A |
T |
4: 96,332,871 (GRCm39) |
S492T |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,430,465 (GRCm39) |
S358P |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,079,151 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
C |
5: 110,832,933 (GRCm39) |
|
probably benign |
Het |
Fam209 |
T |
A |
2: 172,314,758 (GRCm39) |
N82K |
probably benign |
Het |
G3bp2 |
A |
T |
5: 92,221,056 (GRCm39) |
Y20N |
probably damaging |
Het |
Gli2 |
T |
C |
1: 118,765,379 (GRCm39) |
D924G |
probably benign |
Het |
Gm10787 |
T |
C |
10: 76,857,850 (GRCm39) |
|
noncoding transcript |
Het |
Gm11568 |
A |
G |
11: 99,748,872 (GRCm39) |
R26G |
unknown |
Het |
Hivep3 |
T |
G |
4: 119,953,763 (GRCm39) |
L693R |
probably damaging |
Het |
Hook1 |
A |
G |
4: 95,881,449 (GRCm39) |
|
probably benign |
Het |
Ibtk |
A |
C |
9: 85,619,591 (GRCm39) |
D116E |
probably damaging |
Het |
Insrr |
C |
T |
3: 87,718,288 (GRCm39) |
T927I |
possibly damaging |
Het |
Irx1 |
T |
G |
13: 72,107,747 (GRCm39) |
S312R |
probably benign |
Het |
Itga11 |
T |
C |
9: 62,659,570 (GRCm39) |
Y441H |
probably benign |
Het |
Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
Kat6b |
G |
T |
14: 21,719,489 (GRCm39) |
E1280D |
probably benign |
Het |
Kcnk10 |
T |
A |
12: 98,402,560 (GRCm39) |
Y293F |
possibly damaging |
Het |
Krt74 |
T |
A |
15: 101,669,398 (GRCm39) |
|
noncoding transcript |
Het |
Lars1 |
T |
G |
18: 42,347,902 (GRCm39) |
I974L |
probably benign |
Het |
Limch1 |
A |
G |
5: 67,126,498 (GRCm39) |
D42G |
probably damaging |
Het |
Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
Mkrn3 |
A |
G |
7: 62,068,612 (GRCm39) |
I393T |
probably benign |
Het |
Mpl |
A |
C |
4: 118,301,217 (GRCm39) |
S541R |
probably damaging |
Het |
Nfrkb |
T |
C |
9: 31,321,564 (GRCm39) |
S754P |
possibly damaging |
Het |
Or4c125 |
A |
G |
2: 89,170,580 (GRCm39) |
L22P |
probably benign |
Het |
Or5bw2 |
T |
C |
7: 6,573,652 (GRCm39) |
Y221H |
possibly damaging |
Het |
Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
Or8g18 |
T |
A |
9: 39,149,496 (GRCm39) |
T75S |
probably damaging |
Het |
P2rx7 |
A |
T |
5: 122,811,861 (GRCm39) |
I391F |
possibly damaging |
Het |
Pbrm1 |
T |
A |
14: 30,807,016 (GRCm39) |
|
probably null |
Het |
Pcdh8 |
T |
C |
14: 80,007,516 (GRCm39) |
D349G |
probably damaging |
Het |
Pias1 |
A |
G |
9: 62,789,291 (GRCm39) |
S639P |
possibly damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,347,820 (GRCm39) |
I232F |
probably damaging |
Het |
Plxnc1 |
C |
T |
10: 94,673,797 (GRCm39) |
R995Q |
probably damaging |
Het |
Pnliprp2 |
T |
A |
19: 58,762,519 (GRCm39) |
S375T |
probably benign |
Het |
Prkar1b |
C |
T |
5: 139,005,847 (GRCm39) |
V313M |
probably benign |
Het |
Prr35 |
T |
C |
17: 26,166,523 (GRCm39) |
N338S |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,677,583 (GRCm39) |
S734P |
probably damaging |
Het |
Rdh1 |
T |
C |
10: 127,595,810 (GRCm39) |
W2R |
possibly damaging |
Het |
Rsph10b |
A |
T |
5: 143,886,156 (GRCm39) |
I285L |
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,284,987 (GRCm39) |
F502S |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,653,329 (GRCm39) |
I3693F |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,814,747 (GRCm39) |
Y675C |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,593,207 (GRCm39) |
T477A |
probably benign |
Het |
Scn2a |
G |
T |
2: 65,542,269 (GRCm39) |
V791L |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,117,820 (GRCm39) |
T1573S |
probably damaging |
Het |
Sema3c |
A |
T |
5: 17,919,413 (GRCm39) |
H483L |
probably benign |
Het |
Sema6c |
T |
C |
3: 95,076,002 (GRCm39) |
S219P |
probably damaging |
Het |
Slc10a5 |
T |
G |
3: 10,400,177 (GRCm39) |
E161A |
probably damaging |
Het |
Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
Slc34a3 |
C |
T |
2: 25,123,077 (GRCm39) |
|
probably benign |
Het |
Slc38a9 |
A |
T |
13: 112,865,730 (GRCm39) |
|
probably null |
Het |
Taok1 |
A |
C |
11: 77,450,670 (GRCm39) |
S367R |
possibly damaging |
Het |
Tlr6 |
G |
A |
5: 65,112,203 (GRCm39) |
Q235* |
probably null |
Het |
Top2a |
A |
G |
11: 98,887,665 (GRCm39) |
V1281A |
probably benign |
Het |
Tpgs1 |
T |
C |
10: 79,511,616 (GRCm39) |
Y253H |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,703,462 (GRCm39) |
T288A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,154,213 (GRCm39) |
E2140G |
probably benign |
Het |
Uso1 |
A |
G |
5: 92,321,878 (GRCm39) |
Q257R |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,362,677 (GRCm39) |
V48A |
probably damaging |
Het |
Zfp174 |
T |
A |
16: 3,666,118 (GRCm39) |
S128T |
possibly damaging |
Het |
Zscan26 |
T |
A |
13: 21,629,225 (GRCm39) |
D426V |
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 |
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'- GGGTCCACTTTCCACTAAGGCAAAA -3'
(R):5'- GCAGCAGGTCAAGTAGCATCATGT -3'
Sequencing Primer
(F):5'- GGTTTCTGCACAAGTGAACTC -3'
(R):5'- TGCACAACCTCCTGAAATTCC -3'
|
Posted On |
2013-06-11 |