Incidental Mutation 'R9101:Dclre1a'
| ID |
691723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclre1a
|
| Ensembl Gene |
ENSMUSG00000025077 |
| Gene Name |
DNA cross-link repair 1A |
| Synonyms |
2810043H12Rik, SNM1, SMN1a, mSNM1 |
| MMRRC Submission |
068915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56517599-56536675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56532738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 619
(F619I)
|
| 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: F619I
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: F619I
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
C |
12: 113,455,376 (GRCm39) |
V731A |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,071,794 (GRCm39) |
|
probably null |
Het |
| Afdn |
T |
C |
17: 14,043,706 (GRCm39) |
V388A |
probably damaging |
Het |
| Alg3 |
A |
G |
16: 20,427,599 (GRCm39) |
Y113H |
possibly damaging |
Het |
| Aox1 |
C |
T |
1: 58,371,796 (GRCm39) |
P820L |
probably benign |
Het |
| Avil |
A |
G |
10: 126,852,873 (GRCm39) |
D731G |
probably benign |
Het |
| Blvra |
C |
T |
2: 126,927,890 (GRCm39) |
L47F |
probably damaging |
Het |
| Bmerb1 |
T |
A |
16: 13,867,259 (GRCm39) |
I39N |
probably damaging |
Het |
| Ccdc85c |
C |
A |
12: 108,240,917 (GRCm39) |
R159L |
unknown |
Het |
| Clcn2 |
T |
C |
16: 20,525,979 (GRCm39) |
D797G |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Dnajb1 |
C |
A |
8: 84,335,119 (GRCm39) |
D53E |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,852,839 (GRCm39) |
D89G |
probably damaging |
Het |
| Gck |
A |
G |
11: 5,856,516 (GRCm39) |
Y214H |
probably damaging |
Het |
| Gm9507 |
A |
G |
10: 77,647,650 (GRCm39) |
S10P |
unknown |
Het |
| Hacd2 |
G |
A |
16: 34,920,156 (GRCm39) |
V138I |
probably benign |
Het |
| Hhip |
A |
T |
8: 80,770,591 (GRCm39) |
V272D |
probably damaging |
Het |
| Hoga1 |
A |
C |
19: 42,048,347 (GRCm39) |
T72P |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,078,893 (GRCm39) |
G414S |
probably damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,500,205 (GRCm39) |
D264E |
probably benign |
Het |
| Lars1 |
G |
A |
18: 42,376,942 (GRCm39) |
R205C |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,869,419 (GRCm39) |
L12Q |
probably null |
Het |
| Mastl |
A |
G |
2: 23,008,449 (GRCm39) |
*866Q |
probably null |
Het |
| Mpzl3 |
T |
A |
9: 44,981,983 (GRCm39) |
M217K |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,929,935 (GRCm39) |
M7K |
probably benign |
Het |
| Mtarc2 |
T |
A |
1: 184,554,687 (GRCm39) |
R273W |
probably null |
Het |
| Nefh |
A |
G |
11: 4,890,925 (GRCm39) |
S565P |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nsd1 |
C |
T |
13: 55,461,359 (GRCm39) |
L2632F |
|
Het |
| Or10d1 |
T |
A |
9: 39,483,805 (GRCm39) |
Y250F |
probably benign |
Het |
| Or1a1b |
C |
T |
11: 74,097,322 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,358,721 (GRCm39) |
I11N |
possibly damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,680 (GRCm39) |
F269I |
possibly damaging |
Het |
| Or51r1 |
T |
C |
7: 102,228,137 (GRCm39) |
V145A |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,694,523 (GRCm39) |
|
probably benign |
Het |
| Or5w18 |
T |
C |
2: 87,632,924 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdhga6 |
T |
C |
18: 37,841,393 (GRCm39) |
V371A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,269,945 (GRCm39) |
K263E |
possibly damaging |
Het |
| Phf3 |
C |
T |
1: 30,843,026 (GRCm39) |
A1978T |
possibly damaging |
Het |
| Phykpl |
C |
A |
11: 51,483,741 (GRCm39) |
T207K |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,628,230 (GRCm39) |
C435S |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel52-ps |
G |
A |
5: 94,531,899 (GRCm39) |
C261Y |
probably damaging |
Het |
| Prkra |
T |
A |
2: 76,478,184 (GRCm39) |
H6L |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,090,078 (GRCm39) |
K131E |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,035,255 (GRCm39) |
V762A |
probably benign |
Het |
| Prr27 |
C |
T |
5: 87,991,330 (GRCm39) |
T314I |
probably damaging |
Het |
| Ptges3 |
A |
G |
10: 127,907,998 (GRCm39) |
D116G |
possibly damaging |
Het |
| Rab11fip5 |
G |
T |
6: 85,317,675 (GRCm39) |
F1071L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,905,175 (GRCm39) |
V66A |
possibly damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,815,740 (GRCm39) |
D764V |
probably benign |
Het |
| Ten1 |
A |
G |
11: 116,096,562 (GRCm39) |
Y72C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,745,186 (GRCm39) |
L1125S |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,544,557 (GRCm39) |
I159F |
possibly damaging |
Het |
| Tmppe |
T |
C |
9: 114,234,309 (GRCm39) |
S203P |
probably damaging |
Het |
| Ttc23l |
A |
T |
15: 10,537,661 (GRCm39) |
I203N |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,969,980 (GRCm39) |
L803P |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,471 (GRCm39) |
I733F |
|
Het |
| Xxylt1 |
T |
C |
16: 30,899,745 (GRCm39) |
N137D |
possibly damaging |
Het |
| Zc3h13 |
G |
A |
14: 75,561,042 (GRCm39) |
R544Q |
unknown |
Het |
| Zfhx4 |
C |
T |
3: 5,477,198 (GRCm39) |
T3271I |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,212,392 (GRCm39) |
C493S |
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 |
|
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 |
|
|
|
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'- AGGATGACTGGTCCCAACTC -3'
(R):5'- ATGCCTCTTGACAAGCCCTTG -3'
Sequencing Primer
(F):5'- AACTCTGGGTTGTTCATGAGGTGAC -3'
(R):5'- TTCCAGTCCCAAGTGCAGC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation