Incidental Mutation 'R9275:C1ra'
| ID |
703216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124489580-124500399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124494383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 277
(T277A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068593]
|
| AlphaFold |
Q8CG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068593
AA Change: T277A
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: T277A
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
14 |
140 |
1.56e-35 |
SMART |
|
EGF_CA
|
141 |
189 |
1.88e-10 |
SMART |
|
CUB
|
192 |
304 |
4.74e-35 |
SMART |
|
CCP
|
308 |
370 |
5.56e-9 |
SMART |
|
CCP
|
375 |
446 |
1.53e-6 |
SMART |
|
Tryp_SPc
|
462 |
699 |
2.7e-71 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
A |
G |
11: 76,355,108 (GRCm39) |
Y249H |
probably damaging |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Akap11 |
C |
A |
14: 78,751,149 (GRCm39) |
V413F |
|
Het |
| Ank3 |
T |
C |
10: 69,822,662 (GRCm39) |
S444P |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,344,599 (GRCm39) |
E91K |
possibly damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,137,665 (GRCm39) |
S309P |
probably damaging |
Het |
| Arpc2 |
C |
A |
1: 74,276,041 (GRCm39) |
F19L |
probably benign |
Het |
| Atp5f1a |
C |
T |
18: 77,868,997 (GRCm39) |
T457I |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,988,819 (GRCm39) |
R2311H |
probably damaging |
Het |
| Celsr3 |
C |
G |
9: 108,715,689 (GRCm39) |
L2124V |
probably benign |
Het |
| Cenpv |
T |
C |
11: 62,415,989 (GRCm39) |
*253W |
probably null |
Het |
| Cfap54 |
A |
T |
10: 92,875,048 (GRCm39) |
V479E |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,428,564 (GRCm39) |
|
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,519,568 (GRCm39) |
Y73F |
probably benign |
Het |
| Cpne2 |
T |
C |
8: 95,281,643 (GRCm39) |
I226T |
possibly damaging |
Het |
| Cyp2c67 |
C |
T |
19: 39,597,699 (GRCm39) |
R433Q |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,232,220 (GRCm39) |
Y489H |
probably damaging |
Het |
| Dennd4a |
C |
A |
9: 64,749,906 (GRCm39) |
P166T |
probably damaging |
Het |
| Dnm2 |
C |
T |
9: 21,416,977 (GRCm39) |
R837W |
possibly damaging |
Het |
| Enpp2 |
C |
T |
15: 54,713,484 (GRCm39) |
R658Q |
probably benign |
Het |
| Gm10521 |
G |
A |
1: 171,724,030 (GRCm39) |
V114I |
unknown |
Het |
| H2-T24 |
T |
A |
17: 36,328,276 (GRCm39) |
E69V |
probably damaging |
Het |
| H6pd |
T |
A |
4: 150,080,307 (GRCm39) |
K179N |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,206,336 (GRCm39) |
W265* |
probably null |
Het |
| Igfn1 |
C |
A |
1: 135,901,185 (GRCm39) |
R431L |
probably damaging |
Het |
| Kcng2 |
T |
C |
18: 80,339,074 (GRCm39) |
S405G |
possibly damaging |
Het |
| Leng9 |
T |
C |
7: 4,151,447 (GRCm39) |
T410A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,487,076 (GRCm39) |
Y4557C |
|
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mlkl |
A |
G |
8: 112,043,055 (GRCm39) |
V364A |
probably benign |
Het |
| Mns1 |
T |
A |
9: 72,356,507 (GRCm39) |
F254Y |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,562,684 (GRCm39) |
N827I |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,146,190 (GRCm39) |
R2929H |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,749,046 (GRCm39) |
Y259C |
probably benign |
Het |
| Or5v1b |
T |
A |
17: 37,841,819 (GRCm39) |
M317K |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,200,488 (GRCm39) |
*797W |
probably null |
Het |
| Pirb |
T |
G |
7: 3,719,859 (GRCm39) |
H429P |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,594,286 (GRCm39) |
L321P |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,262,471 (GRCm39) |
I722V |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,471,485 (GRCm39) |
R274G |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 17,101,144 (GRCm39) |
T2216I |
probably benign |
Het |
| Psma3 |
A |
T |
12: 71,041,156 (GRCm39) |
D252V |
probably benign |
Het |
| Ptpn1 |
C |
T |
2: 167,816,176 (GRCm39) |
T230I |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,585,120 (GRCm39) |
V519A |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,326,768 (GRCm39) |
V1586A |
|
Het |
| Rrp36 |
T |
A |
17: 46,983,306 (GRCm39) |
K103* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,897,976 (GRCm39) |
T140A |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,130,026 (GRCm39) |
Y243F |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,941,953 (GRCm39) |
T534A |
possibly damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,731,640 (GRCm39) |
D117G |
probably damaging |
Het |
| Slc2a1 |
A |
T |
4: 118,990,607 (GRCm39) |
E246D |
probably benign |
Het |
| Smpd2 |
T |
C |
10: 41,363,685 (GRCm39) |
D289G |
probably benign |
Het |
| Spag6 |
A |
C |
2: 18,703,985 (GRCm39) |
E11A |
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,262,931 (GRCm39) |
|
probably benign |
Het |
| Tcf19 |
A |
G |
17: 35,825,899 (GRCm39) |
V86A |
probably damaging |
Het |
| Tcstv7a |
T |
C |
13: 120,289,993 (GRCm39) |
S68G |
possibly damaging |
Het |
| Tigit |
A |
T |
16: 43,479,833 (GRCm39) |
M154K |
probably benign |
Het |
| Trim34a |
T |
A |
7: 103,910,201 (GRCm39) |
N334K |
probably damaging |
Het |
| Tsen15 |
T |
C |
1: 152,259,098 (GRCm39) |
I87V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,738,218 (GRCm39) |
M4153K |
unknown |
Het |
| Uchl3 |
A |
T |
14: 101,905,963 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,578 (GRCm39) |
K347E |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,479 (GRCm39) |
M99T |
probably benign |
Het |
| Vmn2r20 |
A |
G |
6: 123,362,394 (GRCm39) |
W797R |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,238,712 (GRCm39) |
T267A |
probably damaging |
Het |
| Zpld2 |
A |
G |
4: 133,922,770 (GRCm39) |
L521P |
probably damaging |
Het |
|
| Other mutations in C1ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:C1ra
|
APN |
6 |
124,499,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03079:C1ra
|
APN |
6 |
124,496,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03151:C1ra
|
APN |
6 |
124,496,730 (GRCm39) |
missense |
probably benign |
0.09 |
|
innate
|
UTSW |
6 |
124,499,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mueller-eberhardt
|
UTSW |
6 |
124,489,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
pillemer
|
UTSW |
6 |
124,493,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:C1ra
|
UTSW |
6 |
124,496,394 (GRCm39) |
splice site |
probably null |
|
|
R0457:C1ra
|
UTSW |
6 |
124,499,712 (GRCm39) |
missense |
probably benign |
|
|
R0472:C1ra
|
UTSW |
6 |
124,494,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0570:C1ra
|
UTSW |
6 |
124,490,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0634:C1ra
|
UTSW |
6 |
124,494,464 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0661:C1ra
|
UTSW |
6 |
124,499,336 (GRCm39) |
missense |
probably benign |
|
|
R1451:C1ra
|
UTSW |
6 |
124,498,600 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1640:C1ra
|
UTSW |
6 |
124,499,233 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1698:C1ra
|
UTSW |
6 |
124,499,725 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4020:C1ra
|
UTSW |
6 |
124,496,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4801:C1ra
|
UTSW |
6 |
124,490,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4802:C1ra
|
UTSW |
6 |
124,490,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4909:C1ra
|
UTSW |
6 |
124,499,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:C1ra
|
UTSW |
6 |
124,496,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:C1ra
|
UTSW |
6 |
124,499,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:C1ra
|
UTSW |
6 |
124,498,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:C1ra
|
UTSW |
6 |
124,499,749 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5635:C1ra
|
UTSW |
6 |
124,493,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:C1ra
|
UTSW |
6 |
124,490,736 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6518:C1ra
|
UTSW |
6 |
124,498,534 (GRCm39) |
splice site |
probably null |
|
|
R6738:C1ra
|
UTSW |
6 |
124,494,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R6805:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R6939:C1ra
|
UTSW |
6 |
124,489,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6981:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R6982:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7056:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7057:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7094:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7468:C1ra
|
UTSW |
6 |
124,499,403 (GRCm39) |
nonsense |
probably null |
|
|
R7476:C1ra
|
UTSW |
6 |
124,499,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7479:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7481:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7512:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7725:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7728:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7730:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7818:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7819:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7835:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7854:C1ra
|
UTSW |
6 |
124,494,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7876:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7877:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7881:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7883:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7892:C1ra
|
UTSW |
6 |
124,496,374 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7899:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7901:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7902:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7903:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7947:C1ra
|
UTSW |
6 |
124,494,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8087:C1ra
|
UTSW |
6 |
124,490,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R8099:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R8271:C1ra
|
UTSW |
6 |
124,499,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:C1ra
|
UTSW |
6 |
124,498,597 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8824:C1ra
|
UTSW |
6 |
124,494,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9227:C1ra
|
UTSW |
6 |
124,493,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:C1ra
|
UTSW |
6 |
124,489,580 (GRCm39) |
start gained |
probably benign |
|
|
R9382:C1ra
|
UTSW |
6 |
124,490,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9477:C1ra
|
UTSW |
6 |
124,499,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:C1ra
|
UTSW |
6 |
124,499,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACACATTGTTCACCAGGATC -3'
(R):5'- CTTATTACTGGCAGGCGAGG -3'
Sequencing Primer
(F):5'- TGTTCACCAGGATCATAGAGGTC -3'
(R):5'- CGAGGGAGGCACCTACATATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation