Incidental Mutation 'R5372:C1ra'
| ID |
428785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
042948-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124489580-124500399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124498584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 426
(Y426N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068593]
|
| AlphaFold |
Q8CG16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068593
AA Change: Y426N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: Y426N
| 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 |
|
| Meta Mutation Damage Score |
0.5233 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (89/93) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,848,988 (GRCm39) |
D108E |
probably damaging |
Het |
| Abhd12b |
A |
G |
12: 70,227,800 (GRCm39) |
D194G |
probably damaging |
Het |
| Adck5 |
A |
G |
15: 76,478,707 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,167,940 (GRCm39) |
V792I |
probably benign |
Het |
| Anxa8 |
G |
A |
14: 33,815,868 (GRCm39) |
V174M |
probably damaging |
Het |
| Apol9b |
A |
T |
15: 77,619,920 (GRCm39) |
R239W |
probably benign |
Het |
| Arhgap26 |
A |
G |
18: 38,775,509 (GRCm39) |
|
noncoding transcript |
Het |
| Atrnl1 |
A |
G |
19: 57,743,968 (GRCm39) |
Y1190C |
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,707,464 (GRCm39) |
L376R |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,484,475 (GRCm39) |
M132K |
probably damaging |
Het |
| C130073F10Rik |
A |
T |
4: 101,747,684 (GRCm39) |
I115K |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,623,971 (GRCm39) |
V203E |
probably damaging |
Het |
| Catsperg1 |
T |
A |
7: 28,910,137 (GRCm39) |
D68V |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,780,419 (GRCm39) |
S885A |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,892,544 (GRCm39) |
V236A |
probably damaging |
Het |
| Cdca7 |
A |
T |
2: 72,312,793 (GRCm39) |
E176D |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,061,901 (GRCm39) |
D211G |
probably benign |
Het |
| Clca3a2 |
A |
C |
3: 144,503,286 (GRCm39) |
M888R |
probably benign |
Het |
| Clcn7 |
T |
A |
17: 25,376,153 (GRCm39) |
M568K |
possibly damaging |
Het |
| Clip1 |
G |
T |
5: 123,768,303 (GRCm39) |
N811K |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,585,648 (GRCm39) |
Y1243F |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,167,192 (GRCm39) |
D315E |
probably damaging |
Het |
| Dgcr2 |
T |
C |
16: 17,690,508 (GRCm39) |
T41A |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,176,962 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,521,031 (GRCm39) |
I1264V |
unknown |
Het |
| Fam167b |
A |
T |
4: 129,472,092 (GRCm39) |
L26Q |
possibly damaging |
Het |
| Fam178b |
T |
A |
1: 36,603,929 (GRCm39) |
I457F |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,155 (GRCm39) |
N133K |
probably benign |
Het |
| Fndc1 |
C |
G |
17: 7,984,042 (GRCm39) |
V1295L |
unknown |
Het |
| Gad2 |
A |
T |
2: 22,580,255 (GRCm39) |
D552V |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,923,534 (GRCm39) |
Y361H |
possibly damaging |
Het |
| Heca |
T |
A |
10: 17,790,887 (GRCm39) |
S390C |
probably damaging |
Het |
| Hephl1 |
G |
T |
9: 15,009,195 (GRCm39) |
Y132* |
probably null |
Het |
| Hormad1 |
T |
A |
3: 95,483,735 (GRCm39) |
D182E |
probably damaging |
Het |
| Ifna15 |
G |
A |
4: 88,476,338 (GRCm39) |
P49S |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,331,292 (GRCm39) |
T429A |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,907,108 (GRCm39) |
Q1094R |
possibly damaging |
Het |
| Map3k11 |
T |
A |
19: 5,740,990 (GRCm39) |
I239K |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,250,222 (GRCm39) |
T1319A |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,716 (GRCm39) |
I406T |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,250,819 (GRCm39) |
T43A |
possibly damaging |
Het |
| Nynrin |
A |
G |
14: 56,105,948 (GRCm39) |
E889G |
probably benign |
Het |
| Opa1 |
A |
C |
16: 29,404,937 (GRCm39) |
H45P |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,176 (GRCm39) |
I202N |
possibly damaging |
Het |
| Or4f60 |
A |
G |
2: 111,902,454 (GRCm39) |
I158T |
probably benign |
Het |
| Or56b2j |
A |
G |
7: 104,353,002 (GRCm39) |
D76G |
probably benign |
Het |
| Or8a1b |
T |
C |
9: 37,623,234 (GRCm39) |
M114V |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,793,309 (GRCm39) |
K543R |
probably benign |
Het |
| Plcxd3 |
G |
A |
15: 4,604,270 (GRCm39) |
V293I |
probably benign |
Het |
| Polr2g |
T |
C |
19: 8,774,667 (GRCm39) |
Y72C |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,858,103 (GRCm39) |
K205E |
probably benign |
Het |
| Ptpre |
A |
G |
7: 135,255,669 (GRCm39) |
K53E |
possibly damaging |
Het |
| Rasal3 |
T |
C |
17: 32,610,318 (GRCm39) |
K990E |
probably benign |
Het |
| Rgs3 |
A |
T |
4: 62,570,934 (GRCm39) |
|
probably benign |
Het |
| Rhd |
A |
G |
4: 134,611,943 (GRCm39) |
T254A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scube3 |
G |
T |
17: 28,371,456 (GRCm39) |
C57F |
probably damaging |
Het |
| Sh2d5 |
A |
G |
4: 137,982,010 (GRCm39) |
D57G |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,177,705 (GRCm39) |
L608* |
probably null |
Het |
| Slk |
A |
T |
19: 47,613,832 (GRCm39) |
N896I |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,332,431 (GRCm39) |
D211G |
probably damaging |
Het |
| Sox6 |
A |
T |
7: 115,149,386 (GRCm39) |
Y371* |
probably null |
Het |
| Srcap |
G |
A |
7: 127,156,785 (GRCm39) |
|
probably null |
Het |
| Stard5 |
T |
A |
7: 83,282,428 (GRCm39) |
D80E |
probably damaging |
Het |
| Supv3l1 |
C |
T |
10: 62,268,136 (GRCm39) |
V570M |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,403,985 (GRCm39) |
V180L |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,224,990 (GRCm39) |
H558Q |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,446 (GRCm39) |
M176K |
possibly damaging |
Het |
| Tmem135 |
A |
T |
7: 88,814,382 (GRCm39) |
|
probably null |
Het |
| Trim35 |
T |
C |
14: 66,534,715 (GRCm39) |
V66A |
possibly damaging |
Het |
| Tspan12 |
A |
G |
6: 21,772,698 (GRCm39) |
S284P |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,378,382 (GRCm39) |
K257* |
probably null |
Het |
| Uggt1 |
C |
A |
1: 36,283,141 (GRCm39) |
|
probably benign |
Het |
| Vmn2r7 |
T |
A |
3: 64,623,745 (GRCm39) |
I283F |
probably damaging |
Het |
| Wdfy2 |
T |
G |
14: 63,192,334 (GRCm39) |
H363Q |
probably damaging |
Het |
| Wdr4 |
T |
A |
17: 31,729,554 (GRCm39) |
K95N |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,620 (GRCm39) |
N91S |
possibly damaging |
Het |
| Zfp383 |
C |
T |
7: 29,614,695 (GRCm39) |
R317* |
probably null |
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 |
|
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 |
|
|
R9275:C1ra
|
UTSW |
6 |
124,494,383 (GRCm39) |
missense |
probably benign |
0.26 |
|
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'- TCCAAAGTAGGCATCAGCTC -3'
(R):5'- CCCTTGGAGTTGAAGCATCACC -3'
Sequencing Primer
(F):5'- GATCCTTGACTATGGTGTCT -3'
(R):5'- GGAGTTGAAGCATCACCTTACTTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation