Incidental Mutation 'PIT4377001:Dclre1a'
ID |
554960 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dclre1a
|
Ensembl Gene |
ENSMUSG00000025077 |
Gene Name |
DNA cross-link repair 1A |
Synonyms |
2810043H12Rik, SNM1, SMN1a, mSNM1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4377001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56517599-56536675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56532837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 586
(A586T)
|
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 |
probably benign
Transcript: ENSMUST00000182059
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182276
AA Change: A586T
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138290 Gene: ENSMUSG00000025077 AA Change: A586T
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 |
|
Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.8%
- 10x: 85.9%
- 20x: 75.6%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
T |
C |
4: 39,451,129 (GRCm39) |
C112R |
possibly damaging |
Het |
Acadl |
G |
A |
1: 66,877,564 (GRCm39) |
T329M |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,677,104 (GRCm39) |
L1909P |
probably damaging |
Het |
Aff3 |
A |
C |
1: 38,578,044 (GRCm39) |
V31G |
probably damaging |
Het |
Bag3 |
A |
G |
7: 128,147,441 (GRCm39) |
D352G |
probably damaging |
Het |
Bcas3 |
A |
T |
11: 85,386,668 (GRCm39) |
T368S |
probably damaging |
Het |
Bmp3 |
A |
G |
5: 99,027,608 (GRCm39) |
I434V |
unknown |
Het |
Casq1 |
T |
A |
1: 172,039,568 (GRCm39) |
T336S |
probably benign |
Het |
Cib2 |
T |
G |
9: 54,467,271 (GRCm39) |
E11A |
probably damaging |
Het |
Cttn |
C |
A |
7: 143,993,833 (GRCm39) |
E393D |
possibly damaging |
Het |
Dchs1 |
G |
A |
7: 105,406,795 (GRCm39) |
R2237W |
probably damaging |
Het |
Defb1 |
C |
A |
8: 22,266,716 (GRCm39) |
Q17K |
possibly damaging |
Het |
Dgat2 |
T |
C |
7: 98,806,342 (GRCm39) |
Y285C |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,571,404 (GRCm39) |
F732Y |
probably damaging |
Het |
Dock2 |
T |
G |
11: 34,611,835 (GRCm39) |
D176A |
probably benign |
Het |
Epha6 |
A |
G |
16: 60,025,915 (GRCm39) |
I509T |
probably damaging |
Het |
Fblim1 |
C |
T |
4: 141,322,720 (GRCm39) |
R21H |
probably damaging |
Het |
Fbxw20 |
T |
A |
9: 109,050,795 (GRCm39) |
H371L |
probably benign |
Het |
Foxa1 |
T |
A |
12: 57,589,567 (GRCm39) |
I218F |
probably damaging |
Het |
Fstl1 |
A |
T |
16: 37,636,167 (GRCm39) |
I53F |
probably benign |
Het |
Gdnf |
A |
G |
15: 7,864,011 (GRCm39) |
R141G |
probably benign |
Het |
Gemin7 |
G |
A |
7: 19,299,242 (GRCm39) |
R118* |
probably null |
Het |
Gm43218 |
T |
C |
6: 70,217,565 (GRCm39) |
T64A |
probably benign |
Het |
Gnat3 |
G |
A |
5: 18,220,557 (GRCm39) |
M243I |
|
Het |
Gramd1a |
A |
T |
7: 30,843,095 (GRCm39) |
I71N |
possibly damaging |
Het |
H4c12 |
C |
G |
13: 21,934,654 (GRCm39) |
G8R |
unknown |
Het |
Htt |
A |
T |
5: 35,033,309 (GRCm39) |
D1859V |
probably benign |
Het |
Hyal1 |
T |
C |
9: 107,456,468 (GRCm39) |
F415S |
probably damaging |
Het |
Ighv1-47 |
T |
C |
12: 114,954,858 (GRCm39) |
N74S |
probably benign |
Het |
Igkv1-131 |
T |
C |
6: 67,743,192 (GRCm39) |
R64G |
probably benign |
Het |
Itgb1 |
T |
A |
8: 129,436,864 (GRCm39) |
V95D |
probably damaging |
Het |
Jak1 |
A |
C |
4: 101,036,748 (GRCm39) |
N297K |
probably benign |
Het |
Kcna4 |
T |
A |
2: 107,127,205 (GRCm39) |
N646K |
possibly damaging |
Het |
Krt42 |
A |
G |
11: 100,153,931 (GRCm39) |
S442P |
probably damaging |
Het |
Mcm3ap |
G |
A |
10: 76,338,596 (GRCm39) |
S1408N |
possibly damaging |
Het |
Mdga2 |
T |
A |
12: 66,763,469 (GRCm39) |
Q278L |
probably damaging |
Het |
Mkln1 |
C |
T |
6: 31,451,289 (GRCm39) |
T410M |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,552,466 (GRCm39) |
E1792G |
probably damaging |
Het |
Ndrg1 |
A |
G |
15: 66,820,288 (GRCm39) |
C49R |
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,801,232 (GRCm39) |
H1201R |
probably benign |
Het |
Nfasc |
T |
C |
1: 132,510,804 (GRCm39) |
Y1073C |
unknown |
Het |
Nrbp2 |
A |
G |
15: 75,958,945 (GRCm39) |
Y253H |
probably benign |
Het |
Or10c1 |
T |
A |
17: 37,521,980 (GRCm39) |
I255F |
probably benign |
Het |
Or4g16 |
T |
A |
2: 111,137,225 (GRCm39) |
V225D |
probably damaging |
Het |
Or4k45 |
T |
C |
2: 111,395,556 (GRCm39) |
T78A |
probably damaging |
Het |
Pcsk5 |
A |
T |
19: 17,416,466 (GRCm39) |
C1661S |
probably damaging |
Het |
Qsox2 |
T |
G |
2: 26,110,924 (GRCm39) |
D147A |
probably damaging |
Het |
Siglec15 |
T |
A |
18: 78,100,590 (GRCm39) |
|
probably benign |
Het |
Skint5 |
T |
A |
4: 113,454,900 (GRCm39) |
T1011S |
unknown |
Het |
Slc9a2 |
A |
G |
1: 40,783,001 (GRCm39) |
T422A |
probably damaging |
Het |
Tert |
C |
T |
13: 73,776,380 (GRCm39) |
T377I |
possibly damaging |
Het |
Tex15 |
T |
A |
8: 34,061,129 (GRCm39) |
S186R |
probably damaging |
Het |
Tgfb1 |
A |
G |
7: 25,396,343 (GRCm39) |
D212G |
probably benign |
Het |
Tnc |
T |
G |
4: 63,935,973 (GRCm39) |
D321A |
probably damaging |
Het |
Topbp1 |
G |
A |
9: 103,187,088 (GRCm39) |
E98K |
possibly damaging |
Het |
Ugp2 |
C |
A |
11: 21,320,203 (GRCm39) |
M1I |
probably null |
Het |
Vipr2 |
G |
A |
12: 116,058,418 (GRCm39) |
D112N |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,718,265 (GRCm39) |
E485G |
probably damaging |
Het |
Vps37a |
T |
A |
8: 40,990,087 (GRCm39) |
I198N |
possibly damaging |
Het |
Zbtb9 |
T |
C |
17: 27,193,735 (GRCm39) |
V380A |
probably damaging |
Het |
Zfhx4 |
G |
C |
3: 5,307,802 (GRCm39) |
V343L |
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 |
|
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 |
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'- ACCTGACCTTCTCTGGCATG -3'
(R):5'- CCTGCAGGAATGCACAGAAG -3'
Sequencing Primer
(F):5'- CCTTCCCGTGGTGAATTTGACG -3'
(R):5'- AGAAGCGCTCTAGCATGC -3'
|
Posted On |
2019-06-07 |