Incidental Mutation 'IGL02358:Ercc6l2'
ID |
290356 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ercc6l2
|
Ensembl Gene |
ENSMUSG00000021470 |
Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 6 like 2 |
Synonyms |
0610007P08Rik, 9330134C04Rik, 1700019D06Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
IGL02358
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
63963054-64048116 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64001497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 552
(L552P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021925]
[ENSMUST00000021926]
[ENSMUST00000067821]
[ENSMUST00000095724]
[ENSMUST00000159957]
|
AlphaFold |
Q9JIM3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021925
AA Change: L528P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021925 Gene: ENSMUSG00000021470 AA Change: L528P
Domain | Start | End | E-Value | Type |
DEXDc
|
118 |
331 |
1.94e-33 |
SMART |
Blast:DEXDc
|
380 |
425 |
2e-13 |
BLAST |
HELICc
|
512 |
589 |
6.96e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021926
AA Change: L437P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021926 Gene: ENSMUSG00000021470 AA Change: L437P
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
DEXDc
|
28 |
216 |
1.74e-12 |
SMART |
Blast:DEXDc
|
265 |
310 |
1e-13 |
BLAST |
Blast:DEXDc
|
317 |
450 |
4e-30 |
BLAST |
SCOP:d1hv8a2
|
388 |
466 |
7e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067821
AA Change: L552P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069488 Gene: ENSMUSG00000021470 AA Change: L552P
Domain | Start | End | E-Value | Type |
DEXDc
|
118 |
331 |
1.94e-33 |
SMART |
Blast:DEXDc
|
380 |
425 |
3e-13 |
BLAST |
HELICc
|
536 |
619 |
3.12e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095724
|
SMART Domains |
Protein: ENSMUSP00000093392 Gene: ENSMUSG00000021470
Domain | Start | End | E-Value | Type |
DEXDc
|
1 |
183 |
2.72e-14 |
SMART |
Blast:DEXDc
|
232 |
277 |
3e-13 |
BLAST |
HELICc
|
388 |
471 |
3.12e-23 |
SMART |
low complexity region
|
817 |
827 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143449
AA Change: L552P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123573 Gene: ENSMUSG00000021470 AA Change: L552P
Domain | Start | End | E-Value | Type |
DEXDc
|
118 |
331 |
1.94e-33 |
SMART |
Blast:DEXDc
|
380 |
425 |
2e-13 |
BLAST |
Blast:DEXDc
|
432 |
565 |
2e-29 |
BLAST |
SCOP:d1hv8a2
|
503 |
581 |
2e-8 |
SMART |
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159957
|
SMART Domains |
Protein: ENSMUSP00000124912 Gene: ENSMUSG00000021470
Domain | Start | End | E-Value | Type |
Pfam:SNF2_N
|
101 |
195 |
2.1e-8 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
G |
16: 56,474,418 (GRCm39) |
T448A |
possibly damaging |
Het |
Adamtsl1 |
T |
A |
4: 86,075,110 (GRCm39) |
|
probably null |
Het |
Adgra3 |
A |
G |
5: 50,215,900 (GRCm39) |
V73A |
probably benign |
Het |
Adgre4 |
G |
A |
17: 56,150,209 (GRCm39) |
R600Q |
probably benign |
Het |
Aggf1 |
T |
C |
13: 95,489,358 (GRCm39) |
|
probably benign |
Het |
Aktip |
C |
T |
8: 91,853,520 (GRCm39) |
V96I |
possibly damaging |
Het |
Atm |
A |
G |
9: 53,433,476 (GRCm39) |
I258T |
probably benign |
Het |
Baz1b |
C |
T |
5: 135,273,160 (GRCm39) |
T1428I |
probably damaging |
Het |
C3ar1 |
A |
T |
6: 122,826,934 (GRCm39) |
Y428N |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,597,380 (GRCm38) |
S437P |
probably damaging |
Het |
Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
Cenpq |
A |
G |
17: 41,235,223 (GRCm39) |
L213P |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,446,504 (GRCm39) |
|
probably null |
Het |
Cln6 |
A |
G |
9: 62,754,407 (GRCm39) |
I150V |
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,045,136 (GRCm39) |
T94A |
probably benign |
Het |
Cyp2c67 |
A |
G |
19: 39,605,861 (GRCm39) |
M345T |
probably damaging |
Het |
Dapk2 |
T |
A |
9: 66,153,805 (GRCm39) |
I187N |
probably damaging |
Het |
Dkk2 |
A |
G |
3: 131,883,673 (GRCm39) |
D191G |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,986,785 (GRCm39) |
F3145I |
probably damaging |
Het |
Dock1 |
A |
C |
7: 134,710,548 (GRCm39) |
D1190A |
possibly damaging |
Het |
Ehhadh |
T |
A |
16: 21,581,620 (GRCm39) |
L457F |
probably damaging |
Het |
Ghrhr |
T |
G |
6: 55,361,138 (GRCm39) |
I284S |
probably damaging |
Het |
Gm10288 |
A |
T |
3: 146,544,954 (GRCm39) |
|
noncoding transcript |
Het |
Gp6 |
T |
G |
7: 4,397,507 (GRCm39) |
I19L |
probably benign |
Het |
Gria4 |
G |
A |
9: 4,456,206 (GRCm39) |
S698L |
possibly damaging |
Het |
Ifng |
A |
T |
10: 118,278,410 (GRCm39) |
I53F |
possibly damaging |
Het |
Kazn |
A |
C |
4: 141,874,327 (GRCm39) |
|
probably null |
Het |
Khk |
A |
T |
5: 31,085,848 (GRCm39) |
I136F |
probably damaging |
Het |
Krtap9-3 |
T |
A |
11: 99,488,885 (GRCm39) |
|
probably benign |
Het |
Lnx1 |
T |
A |
5: 74,788,027 (GRCm39) |
N98Y |
probably damaging |
Het |
Lsp1 |
T |
C |
7: 142,042,679 (GRCm39) |
|
probably null |
Het |
Lta4h |
A |
T |
10: 93,314,329 (GRCm39) |
N467I |
probably benign |
Het |
Mcmbp |
C |
A |
7: 128,311,505 (GRCm39) |
|
probably null |
Het |
Me2 |
A |
T |
18: 73,931,038 (GRCm39) |
I85K |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,353,649 (GRCm39) |
Y525N |
probably damaging |
Het |
Nt5e |
G |
A |
9: 88,209,946 (GRCm39) |
V70M |
probably damaging |
Het |
Or52e4 |
G |
A |
7: 104,706,182 (GRCm39) |
G243D |
probably damaging |
Het |
Or8b36 |
A |
T |
9: 37,937,332 (GRCm39) |
I77L |
possibly damaging |
Het |
Or9k7 |
T |
G |
10: 130,046,603 (GRCm39) |
Y132S |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,373,129 (GRCm39) |
|
probably benign |
Het |
Ppm1d |
A |
T |
11: 85,236,541 (GRCm39) |
E440V |
probably damaging |
Het |
Pramel32 |
A |
T |
4: 88,546,127 (GRCm39) |
I405N |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,915,572 (GRCm39) |
E1047D |
probably damaging |
Het |
Rwdd2b |
G |
A |
16: 87,234,336 (GRCm39) |
A18V |
probably benign |
Het |
Serpina5 |
G |
T |
12: 104,068,384 (GRCm39) |
K148N |
probably damaging |
Het |
Setx |
A |
G |
2: 29,036,976 (GRCm39) |
K1154E |
probably benign |
Het |
Spata31 |
T |
A |
13: 65,069,032 (GRCm39) |
N393K |
probably benign |
Het |
Spcs2 |
T |
C |
7: 99,498,241 (GRCm39) |
K81R |
probably damaging |
Het |
Stt3b |
T |
A |
9: 115,079,975 (GRCm39) |
M646L |
possibly damaging |
Het |
Suco |
T |
C |
1: 161,646,195 (GRCm39) |
T1169A |
probably benign |
Het |
Susd1 |
A |
T |
4: 59,427,985 (GRCm39) |
Y66* |
probably null |
Het |
Trim34a |
T |
A |
7: 103,910,441 (GRCm39) |
C414* |
probably null |
Het |
Trim58 |
G |
A |
11: 58,542,176 (GRCm39) |
G379S |
probably damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,787,002 (GRCm39) |
Q35L |
probably benign |
Het |
Zc3hc1 |
C |
A |
6: 30,376,057 (GRCm39) |
G168W |
probably benign |
Het |
Zfp418 |
T |
C |
7: 7,177,690 (GRCm39) |
|
probably benign |
Het |
Zfp57 |
G |
A |
17: 37,320,919 (GRCm39) |
V258I |
probably benign |
Het |
Zng1 |
A |
T |
19: 24,909,026 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ercc6l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00430:Ercc6l2
|
APN |
13 |
64,006,133 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00678:Ercc6l2
|
APN |
13 |
63,992,427 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00765:Ercc6l2
|
APN |
13 |
63,996,586 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01062:Ercc6l2
|
APN |
13 |
63,995,268 (GRCm39) |
missense |
probably null |
1.00 |
IGL01655:Ercc6l2
|
APN |
13 |
63,967,566 (GRCm39) |
nonsense |
probably null |
|
IGL02175:Ercc6l2
|
APN |
13 |
64,017,004 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02201:Ercc6l2
|
APN |
13 |
64,000,783 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02351:Ercc6l2
|
APN |
13 |
64,001,497 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02622:Ercc6l2
|
APN |
13 |
64,001,437 (GRCm39) |
splice site |
probably null |
|
PIT4812001:Ercc6l2
|
UTSW |
13 |
64,006,071 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0142:Ercc6l2
|
UTSW |
13 |
64,020,320 (GRCm39) |
unclassified |
probably benign |
|
R0648:Ercc6l2
|
UTSW |
13 |
63,992,459 (GRCm39) |
missense |
probably benign |
0.04 |
R1136:Ercc6l2
|
UTSW |
13 |
64,016,934 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1536:Ercc6l2
|
UTSW |
13 |
63,972,685 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1706:Ercc6l2
|
UTSW |
13 |
64,020,272 (GRCm39) |
unclassified |
probably benign |
|
R2108:Ercc6l2
|
UTSW |
13 |
64,019,802 (GRCm39) |
unclassified |
probably benign |
|
R2111:Ercc6l2
|
UTSW |
13 |
63,982,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R2126:Ercc6l2
|
UTSW |
13 |
63,996,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Ercc6l2
|
UTSW |
13 |
64,013,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Ercc6l2
|
UTSW |
13 |
63,992,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R3773:Ercc6l2
|
UTSW |
13 |
63,989,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R3923:Ercc6l2
|
UTSW |
13 |
64,018,549 (GRCm39) |
unclassified |
probably benign |
|
R4233:Ercc6l2
|
UTSW |
13 |
64,019,982 (GRCm39) |
unclassified |
probably benign |
|
R4782:Ercc6l2
|
UTSW |
13 |
63,982,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Ercc6l2
|
UTSW |
13 |
64,042,627 (GRCm39) |
utr 3 prime |
probably benign |
|
R5163:Ercc6l2
|
UTSW |
13 |
64,046,845 (GRCm39) |
utr 3 prime |
probably benign |
|
R5268:Ercc6l2
|
UTSW |
13 |
64,016,925 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5423:Ercc6l2
|
UTSW |
13 |
64,020,072 (GRCm39) |
unclassified |
probably benign |
|
R6128:Ercc6l2
|
UTSW |
13 |
64,001,563 (GRCm39) |
missense |
probably damaging |
0.98 |
R6164:Ercc6l2
|
UTSW |
13 |
64,020,158 (GRCm39) |
unclassified |
probably benign |
|
R7238:Ercc6l2
|
UTSW |
13 |
64,013,798 (GRCm39) |
missense |
probably damaging |
0.98 |
R7295:Ercc6l2
|
UTSW |
13 |
63,967,589 (GRCm39) |
missense |
probably damaging |
0.96 |
R7708:Ercc6l2
|
UTSW |
13 |
63,989,328 (GRCm39) |
nonsense |
probably null |
|
R8085:Ercc6l2
|
UTSW |
13 |
63,992,367 (GRCm39) |
missense |
probably benign |
0.00 |
R8131:Ercc6l2
|
UTSW |
13 |
63,982,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R8259:Ercc6l2
|
UTSW |
13 |
64,020,285 (GRCm39) |
missense |
|
|
R8372:Ercc6l2
|
UTSW |
13 |
64,001,563 (GRCm39) |
missense |
probably damaging |
0.98 |
R8479:Ercc6l2
|
UTSW |
13 |
63,972,629 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9034:Ercc6l2
|
UTSW |
13 |
63,992,447 (GRCm39) |
missense |
probably damaging |
0.97 |
R9065:Ercc6l2
|
UTSW |
13 |
63,967,866 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9557:Ercc6l2
|
UTSW |
13 |
63,989,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R9700:Ercc6l2
|
UTSW |
13 |
63,967,525 (GRCm39) |
missense |
probably benign |
0.32 |
R9763:Ercc6l2
|
UTSW |
13 |
63,982,438 (GRCm39) |
missense |
probably damaging |
1.00 |
RF013:Ercc6l2
|
UTSW |
13 |
64,000,831 (GRCm39) |
missense |
probably benign |
0.06 |
Z1088:Ercc6l2
|
UTSW |
13 |
64,001,542 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2015-04-16 |