Incidental Mutation 'R9321:Dclre1a'
| ID |
706240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclre1a
|
| Ensembl Gene |
ENSMUSG00000025077 |
| Gene Name |
DNA cross-link repair 1A |
| Synonyms |
2810043H12Rik, SNM1, SMN1a, mSNM1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56517599-56536675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56531100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 749
(S749P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182059]
[ENSMUST00000182276]
[ENSMUST00000183143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182059
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182276
AA Change: S749P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077
AA Change: S749P
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,460,475 (GRCm39) |
S4162G |
probably benign |
Het |
| Acvr2b |
T |
C |
9: 119,257,351 (GRCm39) |
I152T |
probably benign |
Het |
| Adam15 |
T |
A |
3: 89,254,794 (GRCm39) |
|
probably null |
Het |
| Adam34 |
C |
T |
8: 44,105,243 (GRCm39) |
G134D |
probably damaging |
Het |
| Aifm2 |
C |
T |
10: 61,571,410 (GRCm39) |
Q315* |
probably null |
Het |
| Akap10 |
A |
G |
11: 61,791,235 (GRCm39) |
F408S |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,114,252 (GRCm39) |
|
probably null |
Het |
| Btbd2 |
A |
C |
10: 80,483,675 (GRCm39) |
V181G |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,741,425 (GRCm39) |
G1070V |
|
Het |
| Ceacam2 |
G |
T |
7: 25,230,089 (GRCm39) |
D172E |
possibly damaging |
Het |
| Crtc3 |
G |
A |
7: 80,259,650 (GRCm39) |
A203V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,338,939 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
G |
A |
2: 118,292,798 (GRCm39) |
V1341M |
possibly damaging |
Het |
| Enpp5 |
T |
C |
17: 44,393,689 (GRCm39) |
V295A |
possibly damaging |
Het |
| Gm1110 |
T |
A |
9: 26,831,891 (GRCm39) |
M87L |
probably benign |
Het |
| Gm57858 |
A |
T |
3: 36,073,139 (GRCm39) |
V381E |
probably damaging |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,969 (GRCm39) |
L241P |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,157,320 (GRCm39) |
T145A |
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,524,534 (GRCm39) |
S138P |
probably benign |
Het |
| Itpripl1 |
T |
C |
2: 126,984,000 (GRCm39) |
S41G |
probably benign |
Het |
| Kcnb2 |
G |
A |
1: 15,779,793 (GRCm39) |
D222N |
possibly damaging |
Het |
| Ldb3 |
C |
A |
14: 34,266,099 (GRCm39) |
G499* |
probably null |
Het |
| Lig1 |
T |
C |
7: 13,034,935 (GRCm39) |
F577S |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,780,991 (GRCm39) |
I177V |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,170,901 (GRCm39) |
T323K |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,661,113 (GRCm39) |
V301A |
probably benign |
Het |
| Mtx3 |
T |
A |
13: 92,984,097 (GRCm39) |
W125R |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,733,370 (GRCm39) |
G1404R |
probably damaging |
Het |
| Myom2 |
C |
T |
8: 15,172,464 (GRCm39) |
P1188S |
possibly damaging |
Het |
| Nars1 |
C |
T |
18: 64,637,950 (GRCm39) |
E335K |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,707,494 (GRCm39) |
V16E |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nme5 |
T |
G |
18: 34,704,597 (GRCm39) |
I83L |
probably benign |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nptx1 |
A |
G |
11: 119,438,378 (GRCm39) |
L13P |
unknown |
Het |
| Or11g27 |
G |
A |
14: 50,771,471 (GRCm39) |
V201I |
probably benign |
Het |
| Or13c25 |
G |
T |
4: 52,911,314 (GRCm39) |
T160N |
probably damaging |
Het |
| Or13m2-ps1 |
T |
A |
6: 42,777,792 (GRCm39) |
V39D |
possibly damaging |
Het |
| Or4k44 |
A |
G |
2: 111,368,434 (GRCm39) |
S67P |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,297 (GRCm39) |
I46F |
probably benign |
Het |
| Or6d13 |
T |
C |
6: 116,518,370 (GRCm39) |
Y319H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,386,023 (GRCm39) |
T916A |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,209,549 (GRCm39) |
N615S |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,434 (GRCm39) |
I248V |
possibly damaging |
Het |
| Rad52 |
T |
C |
6: 119,889,969 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,804,654 (GRCm39) |
M720T |
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,661 (GRCm39) |
H58R |
probably benign |
Het |
| Spg7 |
C |
A |
8: 123,803,688 (GRCm39) |
D239E |
probably benign |
Het |
| Tas2r123 |
A |
T |
6: 132,825,095 (GRCm39) |
M331L |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,656,290 (GRCm39) |
T229A |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,848,767 (GRCm39) |
L939P |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,577,916 (GRCm39) |
T72A |
probably benign |
Het |
| Tmem179 |
G |
T |
12: 112,477,390 (GRCm39) |
N31K |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,189 (GRCm39) |
S165G |
|
Het |
| Tubgcp6 |
T |
C |
15: 88,992,186 (GRCm39) |
T600A |
probably damaging |
Het |
| Txlna |
T |
A |
4: 129,528,246 (GRCm39) |
E230D |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,089,148 (GRCm39) |
I368F |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,665,094 (GRCm39) |
M40K |
possibly damaging |
Het |
| Zfp592 |
C |
T |
7: 80,691,226 (GRCm39) |
S1135L |
possibly damaging |
Het |
| Zfp606 |
A |
G |
7: 12,226,610 (GRCm39) |
T244A |
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 |
|
|
|
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 |
|
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'- AGGTTGTATCTGTCGACAGTGATC -3'
(R):5'- GCAGATGCAGAAATCATTCTTACC -3'
Sequencing Primer
(F):5'- GTATCTGTCGACAGTGATCTATTTG -3'
(R):5'- TTCAGTACGGTGAGATCG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation