Incidental Mutation 'R8270:Dclre1a'
| ID |
639474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclre1a
|
| Ensembl Gene |
ENSMUSG00000025077 |
| Gene Name |
DNA cross-link repair 1A |
| Synonyms |
2810043H12Rik, SNM1, SMN1a, mSNM1 |
| MMRRC Submission |
067694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56517599-56536675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56533382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 404
(T404I)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000182276
AA Change: T404I
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: T404I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,651,163 (GRCm39) |
T3044I |
probably damaging |
Het |
| Apbb1ip |
C |
T |
2: 22,765,004 (GRCm39) |
P562S |
unknown |
Het |
| Arhgap44 |
A |
G |
11: 64,912,860 (GRCm39) |
M477T |
possibly damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,882,354 (GRCm39) |
T1497A |
probably benign |
Het |
| Atp5pd |
T |
C |
11: 115,307,698 (GRCm39) |
D91G |
probably damaging |
Het |
| Atp6v0a4 |
A |
G |
6: 38,051,164 (GRCm39) |
F405L |
probably damaging |
Het |
| Bicc1 |
T |
A |
10: 70,767,938 (GRCm39) |
T893S |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,257,835 (GRCm39) |
C1122S |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,080,636 (GRCm39) |
E369G |
probably damaging |
Het |
| Cass4 |
T |
A |
2: 172,269,589 (GRCm39) |
L557Q |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,839,672 (GRCm39) |
I48V |
probably benign |
Het |
| Crisp3 |
T |
C |
17: 40,546,813 (GRCm39) |
K35R |
probably benign |
Het |
| Csde1 |
G |
A |
3: 102,946,071 (GRCm39) |
A22T |
possibly damaging |
Het |
| Ctse |
T |
C |
1: 131,595,877 (GRCm39) |
Y190H |
probably damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,504,988 (GRCm39) |
D24V |
possibly damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,167,658 (GRCm39) |
Y981* |
probably null |
Het |
| Dmc1 |
T |
C |
15: 79,485,746 (GRCm39) |
D23G |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,059,687 (GRCm39) |
T4429M |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,997,033 (GRCm39) |
|
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fn3k |
A |
T |
11: 121,330,137 (GRCm39) |
M107L |
probably benign |
Het |
| Fxyd5 |
A |
G |
7: 30,740,854 (GRCm39) |
L10P |
probably damaging |
Het |
| Gm21958 |
G |
A |
3: 54,621,633 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
C |
T |
10: 18,659,760 (GRCm39) |
D321N |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,734,050 (GRCm39) |
*310W |
probably null |
Het |
| Hapln2 |
G |
A |
3: 87,930,851 (GRCm39) |
T180I |
possibly damaging |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,379,875 (GRCm39) |
V1166A |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,358 (GRCm39) |
N439S |
|
Het |
| Klhl3 |
A |
T |
13: 58,260,968 (GRCm39) |
M15K |
|
Het |
| Klk1b26 |
A |
T |
7: 43,665,544 (GRCm39) |
T151S |
probably benign |
Het |
| Krtap5-1 |
C |
A |
7: 141,850,199 (GRCm39) |
C176F |
unknown |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,693 (GRCm39) |
C177S |
unknown |
Het |
| Lrrc37 |
T |
C |
11: 103,434,141 (GRCm39) |
I3009M |
unknown |
Het |
| Map1a |
T |
C |
2: 121,129,501 (GRCm39) |
F180L |
probably damaging |
Het |
| Mfap5 |
T |
C |
6: 122,498,889 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
T |
A |
2: 80,355,008 (GRCm39) |
H638L |
possibly damaging |
Het |
| Optc |
C |
T |
1: 133,832,810 (GRCm39) |
V97M |
probably benign |
Het |
| Or5p78 |
T |
A |
7: 108,212,150 (GRCm39) |
I212N |
probably benign |
Het |
| Or8b46 |
T |
G |
9: 38,450,644 (GRCm39) |
M151R |
noncoding transcript |
Het |
| Piezo1 |
A |
G |
8: 123,228,298 (GRCm39) |
Y330H |
|
Het |
| Ppp1r12b |
G |
T |
1: 134,803,886 (GRCm39) |
N424K |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,913,058 (GRCm39) |
F580L |
probably damaging |
Het |
| Prr27 |
A |
C |
5: 87,994,171 (GRCm39) |
K348N |
possibly damaging |
Het |
| Prr30 |
A |
G |
14: 101,435,822 (GRCm39) |
Y247H |
possibly damaging |
Het |
| Rbks |
A |
T |
5: 31,807,810 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,099,535 (GRCm39) |
V336A |
possibly damaging |
Het |
| Serac1 |
A |
T |
17: 6,101,033 (GRCm39) |
L457H |
probably damaging |
Het |
| Serpina1f |
A |
G |
12: 103,659,757 (GRCm39) |
I175T |
probably damaging |
Het |
| Smr2l |
T |
C |
5: 88,430,383 (GRCm39) |
V93A |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,426,897 (GRCm39) |
H242L |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,606,958 (GRCm39) |
M332K |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,769,294 (GRCm39) |
N361K |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,967,458 (GRCm39) |
H393N |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,176,838 (GRCm39) |
L1334S |
probably benign |
Het |
| Usp35 |
T |
C |
7: 96,961,551 (GRCm39) |
E625G |
probably benign |
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 |
|
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 |
|
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'- AGTCTGATTGCCAACAGCTG -3'
(R):5'- CTGGATGATTCACAGCAGGAAC -3'
Sequencing Primer
(F):5'- CTTGATGCAAGTGAGAGGAATTTTTC -3'
(R):5'- AAACCTTCATGGTCCCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation