Incidental Mutation 'R7903:C1ra'
| ID |
610081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
045955-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7903 (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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
T |
C |
18: 24,608,783 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
A |
T |
7: 119,195,215 (GRCm39) |
T596S |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,492,966 (GRCm39) |
K548E |
probably damaging |
Het |
| Anapc15 |
T |
G |
7: 101,547,193 (GRCm39) |
V23G |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,308,570 (GRCm39) |
L123P |
probably damaging |
Het |
| Brf2 |
G |
A |
8: 27,616,121 (GRCm39) |
T88M |
possibly damaging |
Het |
| Ccdc14 |
A |
T |
16: 34,525,280 (GRCm39) |
H191L |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,363,499 (GRCm39) |
V453E |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,458,843 (GRCm39) |
K1110E |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,473,680 (GRCm39) |
D421G |
probably damaging |
Het |
| D130043K22Rik |
T |
G |
13: 25,059,995 (GRCm39) |
V622G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,641,351 (GRCm39) |
S1190P |
probably damaging |
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,212 (GRCm39) |
T30A |
probably benign |
Het |
| Elavl1 |
T |
C |
8: 4,351,756 (GRCm39) |
K120R |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,581,332 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
G |
A |
3: 151,920,498 (GRCm39) |
W79* |
probably null |
Het |
| Gsto2 |
T |
A |
19: 47,873,096 (GRCm39) |
I157N |
possibly damaging |
Het |
| Gucy2d |
A |
G |
7: 98,108,272 (GRCm39) |
D735G |
probably damaging |
Het |
| H2-D1 |
A |
T |
17: 35,482,967 (GRCm39) |
I166F |
probably damaging |
Het |
| Hars2 |
C |
A |
18: 36,919,245 (GRCm39) |
R128S |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,834,500 (GRCm39) |
F496S |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,578,988 (GRCm39) |
V1256A |
unknown |
Het |
| Kif19b |
T |
C |
5: 140,461,767 (GRCm39) |
V523A |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,932,321 (GRCm39) |
M1K |
probably null |
Het |
| Lamtor2 |
T |
C |
3: 88,459,817 (GRCm39) |
N26D |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,382 (GRCm39) |
T799A |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,349,162 (GRCm39) |
D52G |
probably benign |
Het |
| Mcm10 |
T |
C |
2: 5,000,613 (GRCm39) |
T693A |
probably benign |
Het |
| Mgarp |
G |
T |
3: 51,304,119 (GRCm39) |
A10E |
|
Het |
| Mns1 |
A |
T |
9: 72,360,093 (GRCm39) |
E414D |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,265 (GRCm39) |
S341G |
probably null |
Het |
| Nags |
A |
T |
11: 102,037,503 (GRCm39) |
D198V |
possibly damaging |
Het |
| Nedd4l |
C |
T |
18: 65,319,438 (GRCm39) |
P464S |
probably damaging |
Het |
| Nicol1 |
T |
A |
5: 34,140,910 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
C |
2: 151,338,522 (GRCm39) |
Y42H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,942 (GRCm39) |
M67V |
probably benign |
Het |
| Or2b28 |
T |
A |
13: 21,532,046 (GRCm39) |
I316K |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,549,847 (GRCm39) |
L715Q |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 108,828,019 (GRCm39) |
N64Y |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,019,744 (GRCm39) |
F673L |
probably damaging |
Het |
| Pla2g7 |
A |
G |
17: 43,911,512 (GRCm39) |
|
probably null |
Het |
| Pml |
T |
C |
9: 58,156,867 (GRCm39) |
E36G |
probably benign |
Het |
| Proser1 |
C |
A |
3: 53,386,503 (GRCm39) |
S795* |
probably null |
Het |
| Ptprs |
T |
A |
17: 56,731,960 (GRCm39) |
K1016* |
probably null |
Het |
| Rbfox1 |
T |
A |
16: 7,042,375 (GRCm39) |
S76R |
probably benign |
Het |
| Reck |
A |
T |
4: 43,927,166 (GRCm39) |
I486F |
possibly damaging |
Het |
| Rnf103 |
A |
T |
6: 71,486,138 (GRCm39) |
K256N |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,446,905 (GRCm39) |
N713I |
|
Het |
| Slc38a4 |
C |
T |
15: 96,906,809 (GRCm39) |
G310S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,393,145 (GRCm39) |
R218H |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,611,366 (GRCm39) |
H344R |
probably damaging |
Het |
| Smarcc1 |
G |
A |
9: 110,033,334 (GRCm39) |
E810K |
probably benign |
Het |
| Sord |
T |
A |
2: 122,093,706 (GRCm39) |
M275K |
probably benign |
Het |
| Spire2 |
C |
A |
8: 124,095,489 (GRCm39) |
P631T |
probably benign |
Het |
| Sult6b1 |
T |
C |
17: 79,198,279 (GRCm39) |
K207R |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,704,543 (GRCm39) |
D498E |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,110,958 (GRCm39) |
T1024M |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,410 (GRCm39) |
D1276E |
possibly damaging |
Het |
| Tm7sf2 |
A |
G |
19: 6,121,365 (GRCm39) |
F219S |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,199 (GRCm39) |
G496D |
probably benign |
Het |
| Tmtc4 |
G |
A |
14: 123,165,060 (GRCm39) |
H600Y |
probably benign |
Het |
| Vmn1r224 |
A |
T |
17: 20,640,309 (GRCm39) |
L295F |
probably benign |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,135 (GRCm39) |
I18T |
possibly damaging |
Het |
| Vwa7 |
G |
A |
17: 35,236,763 (GRCm39) |
R110H |
probably damaging |
Het |
| Wbp2nl |
C |
T |
15: 82,190,332 (GRCm39) |
Q87* |
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 |
|
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 |
|
|
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'- GGCTTCCTGGGAAACTTGTG -3'
(R):5'- CTGAGGGCAGACAGATTGATTC -3'
Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- GGCAGACAGATTGATTCTTCCAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation