Incidental Mutation 'R7413:Dclre1a'
ID |
575254 |
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 # |
R7413 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56517599-56536675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56531082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 755
(P755S)
|
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: P755S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138290 Gene: ENSMUSG00000025077 AA Change: P755S
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: 99.7%
- 20x: 99.2%
|
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 |
A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
Agbl4 |
A |
T |
4: 111,514,495 (GRCm39) |
D502V |
probably benign |
Het |
Akap5 |
T |
A |
12: 76,375,678 (GRCm39) |
V370E |
possibly damaging |
Het |
Alms1 |
T |
C |
6: 85,605,288 (GRCm39) |
C1844R |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,831,542 (GRCm39) |
K1191E |
probably benign |
Het |
Bsn |
C |
T |
9: 108,016,690 (GRCm39) |
R107Q |
possibly damaging |
Het |
Catsperb |
G |
T |
12: 101,447,307 (GRCm39) |
R269L |
probably damaging |
Het |
Ccer1 |
T |
C |
10: 97,529,804 (GRCm39) |
S156P |
unknown |
Het |
Cdh16 |
C |
T |
8: 105,346,572 (GRCm39) |
A241T |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,172,972 (GRCm39) |
S1367P |
probably damaging |
Het |
Cds2 |
C |
T |
2: 132,135,235 (GRCm39) |
P42L |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,245,431 (GRCm39) |
Y61H |
possibly damaging |
Het |
Ddi1 |
A |
T |
9: 6,265,670 (GRCm39) |
M233K |
probably damaging |
Het |
Dpp4 |
T |
C |
2: 62,187,333 (GRCm39) |
Y474C |
probably damaging |
Het |
Epha7 |
T |
A |
4: 28,871,838 (GRCm39) |
M389K |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,033,457 (GRCm39) |
F181S |
probably damaging |
Het |
Epor |
G |
A |
9: 21,874,776 (GRCm39) |
|
probably benign |
Het |
Fbp2 |
C |
A |
13: 62,985,067 (GRCm39) |
V285L |
probably benign |
Het |
Flnc |
A |
T |
6: 29,452,258 (GRCm39) |
D1694V |
probably damaging |
Het |
Ganab |
T |
A |
19: 8,882,339 (GRCm39) |
M98K |
probably benign |
Het |
Gcm2 |
A |
G |
13: 41,259,230 (GRCm39) |
S80P |
probably damaging |
Het |
Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
Gne |
T |
C |
4: 44,044,857 (GRCm39) |
N426D |
probably benign |
Het |
Ifne |
A |
T |
4: 88,797,840 (GRCm39) |
*193R |
probably null |
Het |
Igf2r |
G |
T |
17: 12,917,115 (GRCm39) |
S1595* |
probably null |
Het |
Krt26 |
C |
T |
11: 99,225,887 (GRCm39) |
M226I |
probably benign |
Het |
Lars2 |
G |
A |
9: 123,288,568 (GRCm39) |
V805I |
probably benign |
Het |
Lrrc57 |
C |
A |
2: 120,436,577 (GRCm39) |
R177L |
probably damaging |
Het |
Lrrn1 |
A |
G |
6: 107,546,083 (GRCm39) |
E627G |
probably benign |
Het |
Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
A |
T |
17: 30,069,647 (GRCm39) |
V133E |
probably damaging |
Het |
Med12l |
A |
G |
3: 58,998,971 (GRCm39) |
T644A |
probably benign |
Het |
Meis1 |
T |
A |
11: 18,938,357 (GRCm39) |
D218V |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,768,970 (GRCm39) |
E1439G |
|
Het |
Naa12 |
T |
C |
18: 80,254,874 (GRCm39) |
V56A |
possibly damaging |
Het |
Nckipsd |
G |
A |
9: 108,691,280 (GRCm39) |
V401I |
probably benign |
Het |
Nrg3 |
T |
C |
14: 38,092,669 (GRCm39) |
I655V |
probably damaging |
Het |
Oprm1 |
A |
T |
10: 6,778,919 (GRCm39) |
I107F |
probably damaging |
Het |
Or4k42 |
A |
C |
2: 111,319,933 (GRCm39) |
I190R |
probably benign |
Het |
Or52n3 |
A |
T |
7: 104,530,057 (GRCm39) |
I48F |
probably benign |
Het |
Or5p51 |
T |
C |
7: 107,444,721 (GRCm39) |
D73G |
probably damaging |
Het |
Osbpl7 |
T |
C |
11: 96,945,704 (GRCm39) |
|
probably null |
Het |
Pcdh18 |
T |
G |
3: 49,699,232 (GRCm39) |
S1077R |
possibly damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,611,975 (GRCm39) |
K312* |
probably null |
Het |
Plekhh2 |
A |
T |
17: 84,873,724 (GRCm39) |
E336D |
probably benign |
Het |
Ptprd |
A |
T |
4: 76,165,076 (GRCm39) |
S49T |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,052,927 (GRCm39) |
I1035V |
probably benign |
Het |
Rlf |
C |
T |
4: 121,007,297 (GRCm39) |
G671D |
probably damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,128 (GRCm39) |
|
probably benign |
Het |
Selenbp2 |
A |
G |
3: 94,607,404 (GRCm39) |
Q275R |
probably benign |
Het |
Slc10a1 |
G |
T |
12: 81,007,396 (GRCm39) |
F128L |
probably benign |
Het |
Slitrk1 |
A |
T |
14: 109,149,357 (GRCm39) |
Y451* |
probably null |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Stambpl1 |
G |
C |
19: 34,204,116 (GRCm39) |
G69R |
probably damaging |
Het |
Surf4 |
G |
T |
2: 26,814,455 (GRCm39) |
R149S |
probably benign |
Het |
Tmem151a |
T |
C |
19: 5,132,702 (GRCm39) |
Y168C |
probably damaging |
Het |
Ttc39c |
A |
G |
18: 12,861,746 (GRCm39) |
K416R |
possibly damaging |
Het |
Tut4 |
T |
C |
4: 108,406,533 (GRCm39) |
I1367T |
possibly damaging |
Het |
Vit |
T |
C |
17: 78,932,309 (GRCm39) |
I472T |
probably damaging |
Het |
Vmn1r212 |
A |
C |
13: 23,067,718 (GRCm39) |
L205R |
probably damaging |
Het |
Wscd2 |
T |
C |
5: 113,715,402 (GRCm39) |
I414T |
probably benign |
Het |
Zfp1005 |
A |
C |
2: 150,108,081 (GRCm39) |
T14P |
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 |
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'- TAGGTTGTATCTGTCGACAGTGATC -3'
(R):5'- AGCAGATGCAGAAATCATTCTTACC -3'
Sequencing Primer
(F):5'- GTATCTGTCGACAGTGATCTATTTG -3'
(R):5'- ACTGGCTTCACTGTGGAT -3'
|
Posted On |
2019-10-07 |