Incidental Mutation 'R5277:Dclre1a'
| ID |
404027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclre1a
|
| Ensembl Gene |
ENSMUSG00000025077 |
| Gene Name |
DNA cross-link repair 1A |
| Synonyms |
2810043H12Rik, SNM1, SMN1a, mSNM1 |
| MMRRC Submission |
042864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5277 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56517599-56536675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56533164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 477
(V477I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071423]
[ENSMUST00000182059]
[ENSMUST00000182276]
[ENSMUST00000183143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071423
|
| SMART Domains |
Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin_8
|
78 |
174 |
2.7e-14 |
PFAM |
|
LY
|
216 |
258 |
8.44e0 |
SMART |
|
Pfam:NHL
|
278 |
304 |
2.3e-9 |
PFAM |
|
low complexity region
|
321 |
331 |
N/A |
INTRINSIC |
|
Blast:LY
|
402 |
446 |
5e-8 |
BLAST |
|
LY
|
467 |
509 |
1.91e0 |
SMART |
|
Pfam:NHL
|
530 |
558 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182059
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182276
AA Change: V477I
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: V477I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
|
Lactamase_B
|
705 |
853 |
7.86e-1 |
SMART |
|
Pfam:DRMBL
|
921 |
1027 |
1e-38 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000183143
|
| SMART Domains |
Protein: ENSMUSP00000138537
Gene: ENSMUSG00000025077
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
110 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0638 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit increased sensitivity to the DNA interstrand cross-linking agent mitomycin C. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,884,660 (GRCm39) |
T54A |
probably damaging |
Het |
| Ablim1 |
T |
C |
19: 57,143,693 (GRCm39) |
R89G |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,844,128 (GRCm39) |
|
probably null |
Het |
| Bhmt |
A |
T |
13: 93,761,393 (GRCm39) |
M185K |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,478,390 (GRCm39) |
|
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,251,915 (GRCm39) |
S70P |
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,905,201 (GRCm39) |
P4021L |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,204 (GRCm39) |
N57D |
possibly damaging |
Het |
| Fam13b |
G |
A |
18: 34,595,243 (GRCm39) |
R374C |
probably benign |
Het |
| Fyb2 |
G |
A |
4: 104,872,876 (GRCm39) |
D686N |
probably damaging |
Het |
| Glra3 |
G |
A |
8: 56,444,242 (GRCm39) |
M67I |
possibly damaging |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gm6180 |
A |
G |
8: 42,700,177 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2c |
A |
G |
11: 115,144,639 (GRCm39) |
V629A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,112,186 (GRCm39) |
|
noncoding transcript |
Het |
| Mc3r |
T |
C |
2: 172,091,707 (GRCm39) |
F310L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,180 (GRCm39) |
D1036G |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,194,019 (GRCm39) |
I790T |
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,367,940 (GRCm39) |
Y233* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 125,954,277 (GRCm39) |
C758* |
probably null |
Het |
| Neurog3 |
T |
A |
10: 61,969,632 (GRCm39) |
Y36N |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
| Or52d13 |
A |
T |
7: 103,110,148 (GRCm39) |
L84H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,896,045 (GRCm39) |
E170G |
possibly damaging |
Het |
| Ppp2r2b |
G |
T |
18: 42,874,207 (GRCm39) |
T41K |
probably damaging |
Het |
| Prmt5 |
A |
T |
14: 54,747,399 (GRCm39) |
D459E |
probably benign |
Het |
| Ric8b |
G |
A |
10: 84,783,516 (GRCm39) |
V125M |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,713,782 (GRCm39) |
S4G |
probably damaging |
Het |
| Rslcan18 |
T |
G |
13: 67,246,498 (GRCm39) |
E371D |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,107 (GRCm39) |
F819Y |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,409,611 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,217,688 (GRCm39) |
T163I |
possibly damaging |
Het |
| Sphkap |
T |
C |
1: 83,253,885 (GRCm39) |
N1288S |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,723,192 (GRCm39) |
|
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,104,531 (GRCm39) |
|
probably null |
Het |
| Tmem69 |
A |
G |
4: 116,410,458 (GRCm39) |
F171L |
probably benign |
Het |
| Urod |
A |
T |
4: 116,847,482 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,460 (GRCm39) |
I29L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,393 (GRCm39) |
T653A |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,815,500 (GRCm39) |
S121R |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,995 (GRCm39) |
T831A |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,006,465 (GRCm39) |
W362* |
probably null |
Het |
| Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,765,403 (GRCm39) |
V32A |
probably damaging |
Het |
|
| Other mutations in Dclre1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Dclre1a
|
APN |
19 |
56,535,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02113:Dclre1a
|
APN |
19 |
56,529,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02264:Dclre1a
|
APN |
19 |
56,532,725 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03303:Dclre1a
|
APN |
19 |
56,535,198 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Gof
|
UTSW |
19 |
56,531,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hoopla
|
UTSW |
19 |
56,535,067 (GRCm39) |
critical splice donor site |
probably null |
|
|
FR4589:Dclre1a
|
UTSW |
19 |
56,532,555 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4377001:Dclre1a
|
UTSW |
19 |
56,532,837 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0081:Dclre1a
|
UTSW |
19 |
56,531,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Dclre1a
|
UTSW |
19 |
56,535,067 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0422:Dclre1a
|
UTSW |
19 |
56,532,567 (GRCm39) |
nonsense |
probably null |
|
|
R0486:Dclre1a
|
UTSW |
19 |
56,529,922 (GRCm39) |
splice site |
probably benign |
|
|
R0619:Dclre1a
|
UTSW |
19 |
56,533,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0639:Dclre1a
|
UTSW |
19 |
56,526,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:Dclre1a
|
UTSW |
19 |
56,519,700 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1352:Dclre1a
|
UTSW |
19 |
56,533,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Dclre1a
|
UTSW |
19 |
56,535,150 (GRCm39) |
splice site |
probably null |
|
|
R1833:Dclre1a
|
UTSW |
19 |
56,529,932 (GRCm39) |
splice site |
probably null |
|
|
R3851:Dclre1a
|
UTSW |
19 |
56,529,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Dclre1a
|
UTSW |
19 |
56,533,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4373:Dclre1a
|
UTSW |
19 |
56,533,874 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5747:Dclre1a
|
UTSW |
19 |
56,529,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5792:Dclre1a
|
UTSW |
19 |
56,518,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5892:Dclre1a
|
UTSW |
19 |
56,535,572 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5993:Dclre1a
|
UTSW |
19 |
56,531,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Dclre1a
|
UTSW |
19 |
56,535,223 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6706:Dclre1a
|
UTSW |
19 |
56,533,501 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6944:Dclre1a
|
UTSW |
19 |
56,533,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6960:Dclre1a
|
UTSW |
19 |
56,531,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Dclre1a
|
UTSW |
19 |
56,528,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7213:Dclre1a
|
UTSW |
19 |
56,518,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Dclre1a
|
UTSW |
19 |
56,535,567 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7413:Dclre1a
|
UTSW |
19 |
56,531,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Dclre1a
|
UTSW |
19 |
56,517,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Dclre1a
|
UTSW |
19 |
56,519,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8270:Dclre1a
|
UTSW |
19 |
56,533,382 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8303:Dclre1a
|
UTSW |
19 |
56,531,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8986:Dclre1a
|
UTSW |
19 |
56,526,826 (GRCm39) |
missense |
|
|
|
R9101:Dclre1a
|
UTSW |
19 |
56,532,738 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9141:Dclre1a
|
UTSW |
19 |
56,533,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9165:Dclre1a
|
UTSW |
19 |
56,526,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9321:Dclre1a
|
UTSW |
19 |
56,531,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9578:Dclre1a
|
UTSW |
19 |
56,528,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF031:Dclre1a
|
UTSW |
19 |
56,532,564 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF046:Dclre1a
|
UTSW |
19 |
56,532,564 (GRCm39) |
utr 3 prime |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTAGAGCGCTTCTGTG -3'
(R):5'- GTACACTAAGTGACTCTTTTCTGC -3'
Sequencing Primer
(F):5'- CTTTGGGTTGGATGCAAAG -3'
(R):5'- TCGAACAGGCTTTCCCAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation