Incidental Mutation 'R6738:C1ra'
| ID |
530304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
044856-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6738 (G1)
|
| Quality Score |
223.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124489580-124500399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124494718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 327
(Y327C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068593]
|
| AlphaFold |
Q8CG16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068593
AA Change: Y327C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: Y327C
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,684,586 (GRCm39) |
Y454H |
probably damaging |
Het |
| Ambp |
A |
T |
4: 63,067,711 (GRCm39) |
D166E |
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,345 (GRCm39) |
V359A |
possibly damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,618,660 (GRCm39) |
S1710T |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 97,040,635 (GRCm39) |
S1713P |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,863,431 (GRCm39) |
K758M |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,199,515 (GRCm39) |
I304T |
possibly damaging |
Het |
| Ccdc73 |
C |
T |
2: 104,822,433 (GRCm39) |
S794L |
probably benign |
Het |
| Cd24a |
A |
G |
10: 43,458,672 (GRCm39) |
N48D |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 113,906,116 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,725,363 (GRCm39) |
T252I |
possibly damaging |
Het |
| Dlx2 |
A |
G |
2: 71,376,406 (GRCm39) |
Y111H |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,376,186 (GRCm39) |
S1324P |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,202,346 (GRCm39) |
F522I |
probably damaging |
Het |
| Fam193b |
C |
T |
13: 55,698,174 (GRCm39) |
A45T |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,904,536 (GRCm38) |
T980A |
probably benign |
Het |
| Gabrb2 |
G |
T |
11: 42,484,758 (GRCm39) |
A272S |
possibly damaging |
Het |
| H2al2a |
G |
T |
2: 18,001,429 (GRCm39) |
Q86K |
possibly damaging |
Het |
| Ikbkb |
T |
G |
8: 23,165,052 (GRCm39) |
I243L |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,816 (GRCm39) |
E527G |
probably benign |
Het |
| Krt35 |
A |
T |
11: 99,984,535 (GRCm39) |
V320D |
probably damaging |
Het |
| Krt76 |
C |
T |
15: 101,795,913 (GRCm39) |
R419H |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,288,832 (GRCm39) |
Y3678F |
probably damaging |
Het |
| Mab21l4 |
G |
A |
1: 93,087,707 (GRCm39) |
L49F |
probably benign |
Het |
| Mnat1 |
T |
G |
12: 73,319,246 (GRCm39) |
S290A |
probably benign |
Het |
| Mptx2 |
T |
C |
1: 173,102,422 (GRCm39) |
E89G |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,407,393 (GRCm39) |
|
probably null |
Het |
| Naaladl2 |
A |
G |
3: 24,225,806 (GRCm39) |
V541A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,465,973 (GRCm39) |
T851A |
possibly damaging |
Het |
| Ncoa4 |
A |
G |
14: 31,892,750 (GRCm39) |
Y11C |
probably benign |
Het |
| Ntn5 |
T |
A |
7: 45,343,780 (GRCm39) |
|
probably null |
Het |
| Or10d4c |
A |
G |
9: 39,557,957 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
C |
T |
2: 36,624,444 (GRCm39) |
T37I |
probably benign |
Het |
| Otop2 |
A |
G |
11: 115,220,318 (GRCm39) |
Y386C |
probably damaging |
Het |
| Ppp2r1a |
T |
A |
17: 21,174,979 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
C |
A |
7: 16,599,830 (GRCm39) |
N764K |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,809,512 (GRCm39) |
L421S |
probably damaging |
Het |
| Ric3 |
G |
A |
7: 108,647,269 (GRCm39) |
R184* |
probably null |
Het |
| Sfswap |
A |
G |
5: 129,618,505 (GRCm39) |
K480E |
probably damaging |
Het |
| Siah2 |
A |
G |
3: 58,598,974 (GRCm39) |
V88A |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,298 (GRCm39) |
F367L |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,920,356 (GRCm39) |
D183G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,123,180 (GRCm39) |
N712S |
possibly damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,283 (GRCm39) |
V72A |
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,367,311 (GRCm39) |
Y184H |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,076,504 (GRCm39) |
Y138H |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,293,946 (GRCm39) |
N227K |
possibly damaging |
Het |
| Trip10 |
C |
T |
17: 57,563,899 (GRCm39) |
P342S |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,735,426 (GRCm39) |
E1156V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,728,472 (GRCm39) |
|
probably benign |
Het |
| Vmn2r109 |
G |
A |
17: 20,774,785 (GRCm39) |
S190L |
possibly damaging |
Het |
| Wdr54 |
A |
G |
6: 83,132,109 (GRCm39) |
S99P |
probably damaging |
Het |
| Ythdf2 |
A |
C |
4: 131,932,272 (GRCm39) |
I296R |
probably benign |
Het |
| Zfp445 |
A |
G |
9: 122,691,123 (GRCm39) |
V24A |
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 |
|
|
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'- GGCTTCCTGGGAAACTTGTG -3'
(R):5'- TCTGAGGGCAGACAGATTGATTC -3'
Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- GGCAGACAGATTGATTCTTCCAGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation