Incidental Mutation 'R7479:C1ra'
| ID |
579667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
045553-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124489580-124500399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124494684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 316
(E316K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068593]
|
| AlphaFold |
Q8CG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068593
AA Change: E316K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: E316K
| 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 |
0.0792 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,372,142 (GRCm39) |
M81L |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,682,348 (GRCm39) |
T667A |
probably damaging |
Het |
| Anpep |
T |
A |
7: 79,485,118 (GRCm39) |
I623F |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,389,607 (GRCm39) |
I501T |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,895 (GRCm39) |
Y536N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,823,587 (GRCm39) |
Y168C |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,082,441 (GRCm39) |
C647R |
probably damaging |
Het |
| Cnot4 |
G |
A |
6: 35,001,083 (GRCm39) |
T604I |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,896,218 (GRCm39) |
T506I |
unknown |
Het |
| Cr2 |
A |
C |
1: 194,840,718 (GRCm39) |
|
probably null |
Het |
| Ctsm |
A |
T |
13: 61,685,569 (GRCm39) |
V281D |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,870,001 (GRCm39) |
I74V |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,717,590 (GRCm39) |
V529D |
probably damaging |
Het |
| Dlgap3 |
C |
A |
4: 127,088,418 (GRCm39) |
H5N |
possibly damaging |
Het |
| Dusp10 |
C |
A |
1: 183,769,617 (GRCm39) |
H194Q |
probably damaging |
Het |
| Eln |
C |
G |
5: 134,736,429 (GRCm39) |
G753A |
unknown |
Het |
| Emb |
T |
A |
13: 117,385,962 (GRCm39) |
N118K |
possibly damaging |
Het |
| Fam184a |
C |
T |
10: 53,531,110 (GRCm39) |
V755I |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,254,904 (GRCm39) |
I846T |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,681,166 (GRCm39) |
I722F |
probably damaging |
Het |
| Gabrb3 |
T |
A |
7: 57,474,171 (GRCm39) |
D362E |
possibly damaging |
Het |
| Galnt2 |
G |
A |
8: 125,061,077 (GRCm39) |
G357D |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,858,373 (GRCm39) |
S35R |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,924,367 (GRCm39) |
I207T |
possibly damaging |
Het |
| Gm10192 |
A |
T |
4: 97,071,272 (GRCm39) |
N44K |
unknown |
Het |
| Gpd1 |
A |
G |
15: 99,617,984 (GRCm39) |
D123G |
probably benign |
Het |
| Grm2 |
A |
T |
9: 106,531,050 (GRCm39) |
D146E |
possibly damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,676,032 (GRCm39) |
D132G |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,425 (GRCm39) |
G236R |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,714 (GRCm39) |
A1934V |
probably benign |
Het |
| Il7r |
C |
T |
15: 9,513,117 (GRCm39) |
A131T |
probably damaging |
Het |
| Itga6 |
C |
T |
2: 71,668,680 (GRCm39) |
R540* |
probably null |
Het |
| Kcnh2 |
A |
G |
5: 24,530,490 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
C |
T |
4: 120,573,022 (GRCm39) |
A260T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,691,517 (GRCm39) |
N3434S |
|
Het |
| Lrrc41 |
C |
T |
4: 115,946,238 (GRCm39) |
P318S |
probably damaging |
Het |
| Map4 |
G |
A |
9: 109,897,892 (GRCm39) |
G873R |
possibly damaging |
Het |
| Med24 |
A |
G |
11: 98,595,787 (GRCm39) |
I968T |
possibly damaging |
Het |
| Mfap5 |
T |
C |
6: 122,503,821 (GRCm39) |
|
probably null |
Het |
| Mtcl1 |
A |
G |
17: 66,686,485 (GRCm39) |
V807A |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,855,467 (GRCm39) |
S934T |
possibly damaging |
Het |
| Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,088 (GRCm39) |
E258G |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,913,281 (GRCm39) |
V545E |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,882,858 (GRCm39) |
D162G |
possibly damaging |
Het |
| Rhot2 |
A |
G |
17: 26,059,723 (GRCm39) |
L367P |
probably damaging |
Het |
| Ripk2 |
A |
G |
4: 16,155,154 (GRCm39) |
F122L |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,588,941 (GRCm39) |
T1322A |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,853,358 (GRCm39) |
L115Q |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,274,462 (GRCm39) |
P1006Q |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,304,804 (GRCm39) |
N207I |
probably damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,562,831 (GRCm39) |
T669I |
probably damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,847,112 (GRCm39) |
D57V |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,617,887 (GRCm39) |
V306D |
probably benign |
Het |
| Srgap3 |
C |
T |
6: 112,712,794 (GRCm39) |
|
probably null |
Het |
| Tas2r134 |
T |
C |
2: 51,517,541 (GRCm39) |
F7L |
not run |
Het |
| Tbcd |
T |
C |
11: 121,383,431 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,703 (GRCm39) |
A413V |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,857,654 (GRCm39) |
V71A |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,950,928 (GRCm39) |
T1649A |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,935,865 (GRCm39) |
E357G |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,773,327 (GRCm39) |
T1158A |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,568,952 (GRCm39) |
E27314* |
probably null |
Het |
| Vps35 |
G |
T |
8: 85,997,434 (GRCm39) |
T512K |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,396,292 (GRCm39) |
S98R |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp945 |
A |
T |
17: 23,070,340 (GRCm39) |
C541S |
possibly damaging |
Het |
| Zfp976 |
T |
A |
7: 42,262,603 (GRCm39) |
E412D |
probably benign |
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 |
|
|
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'- AGCATGGCTTCCTGGGAAAC -3'
(R):5'- GGGCAGACAGATTGATTCTTCC -3'
Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- AGACAGATTGATTCTTCCAGCCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation