Incidental Mutation 'R1221:Dclre1a'
ID |
100169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dclre1a
|
Ensembl Gene |
ENSMUSG00000025077 |
Gene Name |
DNA cross-link repair 1A |
Synonyms |
2810043H12Rik, SNM1, SMN1a, mSNM1 |
MMRRC Submission |
039290-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1221 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56517599-56536675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56519700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 978
(T978A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182276]
[ENSMUST00000183143]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026063
AA Change: T960A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000026063 Gene: ENSMUSG00000025077 AA Change: T960A
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
92 |
N/A |
INTRINSIC |
low complexity region
|
193 |
202 |
N/A |
INTRINSIC |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
Lactamase_B
|
687 |
835 |
7.86e-1 |
SMART |
Pfam:DRMBL
|
903 |
1009 |
1.1e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182058
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182276
AA Change: T978A
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138290 Gene: ENSMUSG00000025077 AA Change: T978A
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 |
probably benign
Transcript: ENSMUST00000183143
|
SMART Domains |
Protein: ENSMUSP00000138537 Gene: ENSMUSG00000025077
Domain | Start | End | E-Value | Type |
low complexity region
|
90 |
110 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183216
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,942,460 (GRCm39) |
S668P |
unknown |
Het |
Anks1 |
A |
G |
17: 28,269,616 (GRCm39) |
Q770R |
possibly damaging |
Het |
Apc2 |
G |
A |
10: 80,142,214 (GRCm39) |
V378I |
probably damaging |
Het |
Apeh |
A |
G |
9: 107,969,808 (GRCm39) |
V184A |
probably benign |
Het |
AU018091 |
A |
G |
7: 3,208,717 (GRCm39) |
F404S |
probably damaging |
Het |
Bap1 |
T |
C |
14: 30,979,608 (GRCm39) |
L537P |
probably damaging |
Het |
Bhlha15 |
A |
G |
5: 144,128,341 (GRCm39) |
Y151C |
probably damaging |
Het |
Bmp8b |
A |
T |
4: 123,008,504 (GRCm39) |
T157S |
probably damaging |
Het |
Btbd1 |
G |
T |
7: 81,468,005 (GRCm39) |
H172N |
possibly damaging |
Het |
C1rl |
A |
G |
6: 124,470,940 (GRCm39) |
R83G |
probably benign |
Het |
Cep104 |
A |
G |
4: 154,072,902 (GRCm39) |
T387A |
probably benign |
Het |
Cfi |
A |
T |
3: 129,666,618 (GRCm39) |
Q447L |
probably damaging |
Het |
Cimap1a |
G |
T |
7: 140,428,296 (GRCm39) |
W10L |
probably damaging |
Het |
Coq6 |
A |
G |
12: 84,418,301 (GRCm39) |
E295G |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,051,985 (GRCm39) |
D582G |
probably benign |
Het |
Dlgap2 |
A |
G |
8: 14,776,952 (GRCm39) |
T65A |
probably benign |
Het |
Dock5 |
G |
A |
14: 67,996,610 (GRCm39) |
S1711L |
probably benign |
Het |
Drc3 |
A |
C |
11: 60,275,052 (GRCm39) |
I338L |
probably benign |
Het |
Dsc1 |
A |
T |
18: 20,247,599 (GRCm39) |
C5* |
probably null |
Het |
F5 |
A |
G |
1: 163,989,368 (GRCm39) |
Y90C |
probably damaging |
Het |
Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
Gm136 |
G |
T |
4: 34,744,127 (GRCm39) |
A239E |
possibly damaging |
Het |
Gm4952 |
A |
T |
19: 12,601,059 (GRCm39) |
D93V |
possibly damaging |
Het |
Gramd1c |
T |
C |
16: 43,810,227 (GRCm39) |
T454A |
possibly damaging |
Het |
Gstm6 |
A |
G |
3: 107,848,418 (GRCm39) |
I58T |
probably damaging |
Het |
Kdm3b |
C |
T |
18: 34,941,298 (GRCm39) |
S263L |
possibly damaging |
Het |
Kdm5b |
G |
C |
1: 134,526,829 (GRCm39) |
S317T |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,777,546 (GRCm39) |
R71G |
possibly damaging |
Het |
Nlrp1b |
G |
A |
11: 71,072,290 (GRCm39) |
P518S |
probably benign |
Het |
Nme5 |
A |
T |
18: 34,704,575 (GRCm39) |
I90N |
probably damaging |
Het |
Nrxn1 |
T |
A |
17: 90,950,722 (GRCm39) |
T478S |
probably damaging |
Het |
Or8g22 |
A |
C |
9: 38,958,483 (GRCm39) |
D77E |
probably damaging |
Het |
Osmr |
G |
A |
15: 6,853,042 (GRCm39) |
Q617* |
probably null |
Het |
Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
Pdpn |
G |
A |
4: 143,000,608 (GRCm39) |
R75C |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,018,725 (GRCm39) |
F842Y |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,227,719 (GRCm39) |
V255E |
probably benign |
Het |
Sema3a |
A |
G |
5: 13,566,190 (GRCm39) |
Q158R |
probably benign |
Het |
Setbp1 |
T |
A |
18: 78,899,798 (GRCm39) |
R1290W |
probably damaging |
Het |
Slc20a1 |
G |
A |
2: 129,050,324 (GRCm39) |
G494D |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,889,584 (GRCm39) |
E151G |
possibly damaging |
Het |
Stt3b |
A |
G |
9: 115,086,567 (GRCm39) |
F351L |
probably benign |
Het |
Tas1r2 |
A |
G |
4: 139,396,436 (GRCm39) |
M592V |
probably benign |
Het |
Tbcd |
A |
G |
11: 121,387,909 (GRCm39) |
T347A |
probably benign |
Het |
Tmem109 |
C |
A |
19: 10,851,733 (GRCm39) |
R37L |
possibly damaging |
Het |
Tmem67 |
G |
A |
4: 12,045,871 (GRCm39) |
S862L |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,781,857 (GRCm39) |
D1017V |
probably damaging |
Het |
Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,644,813 (GRCm39) |
S1130G |
possibly 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 |
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 |
R5277:Dclre1a
|
UTSW |
19 |
56,533,164 (GRCm39) |
missense |
possibly damaging |
0.78 |
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'- TGAGCTGCTAAAATCTTTGCCACCC -3'
(R):5'- AGTGTCAACAGCAGAAGCTGCC -3'
Sequencing Primer
(F):5'- agcacacctgatgaccaac -3'
(R):5'- AGAAGCTGCCTGTGCCAG -3'
|
Posted On |
2014-01-15 |