Incidental Mutation 'IGL02622:Ercc6l2'
| ID |
300927 |
| 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 # |
IGL02622
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
63963054-64048116 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 64001437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021925]
[ENSMUST00000021926]
[ENSMUST00000067821]
[ENSMUST00000095724]
[ENSMUST00000159957]
|
| AlphaFold |
Q9JIM3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021925
|
| SMART Domains |
Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
| 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 null
Transcript: ENSMUST00000021926
|
| SMART Domains |
Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
| 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 null
Transcript: ENSMUST00000067821
|
| SMART Domains |
Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
| 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 null
Transcript: ENSMUST00000143449
|
| SMART Domains |
Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470
| 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 |
probably null
Transcript: ENSMUST00000146190
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,101 (GRCm39) |
V32M |
possibly damaging |
Het |
| Abca1 |
T |
C |
4: 53,034,046 (GRCm39) |
D2228G |
probably damaging |
Het |
| Actr5 |
A |
G |
2: 158,480,728 (GRCm39) |
K582R |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,518,454 (GRCm39) |
D128G |
possibly damaging |
Het |
| Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,409,509 (GRCm39) |
H133R |
probably benign |
Het |
| Cops3 |
C |
T |
11: 59,723,864 (GRCm39) |
D98N |
probably benign |
Het |
| Crlf3 |
T |
C |
11: 79,950,150 (GRCm39) |
D160G |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,825,501 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
C |
A |
8: 62,395,470 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
A |
3: 159,221,147 (GRCm39) |
N159K |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,662,004 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
C |
4: 137,824,677 (GRCm39) |
|
probably benign |
Het |
| Fbxw19 |
T |
A |
9: 109,322,602 (GRCm39) |
M123L |
probably benign |
Het |
| Fus |
T |
A |
7: 127,584,794 (GRCm39) |
L100H |
probably damaging |
Het |
| Gm29247 |
A |
G |
1: 44,146,269 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,115,857 (GRCm39) |
T842A |
probably damaging |
Het |
| Inpp4a |
A |
T |
1: 37,418,115 (GRCm39) |
Q519L |
probably benign |
Het |
| Kcnip1 |
C |
A |
11: 33,593,290 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,855,975 (GRCm39) |
L2432H |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,022,857 (GRCm39) |
V622A |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,997,317 (GRCm39) |
T1712A |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,013,826 (GRCm39) |
T475A |
possibly damaging |
Het |
| Nr4a3 |
G |
A |
4: 48,051,649 (GRCm39) |
M134I |
probably benign |
Het |
| Or2a56 |
T |
G |
6: 42,932,663 (GRCm39) |
V77G |
probably damaging |
Het |
| Or52m1 |
T |
A |
7: 102,290,290 (GRCm39) |
L279Q |
probably damaging |
Het |
| Or5p60 |
T |
A |
7: 107,723,595 (GRCm39) |
I292F |
probably damaging |
Het |
| Paqr6 |
T |
G |
3: 88,273,085 (GRCm39) |
I52S |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,721 (GRCm39) |
L677Q |
probably benign |
Het |
| Phax |
C |
T |
18: 56,717,372 (GRCm39) |
R250* |
probably null |
Het |
| Pkn3 |
A |
G |
2: 29,973,158 (GRCm39) |
D356G |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,035,285 (GRCm39) |
L29P |
probably damaging |
Het |
| Rad18 |
G |
A |
6: 112,664,948 (GRCm39) |
T62I |
probably damaging |
Het |
| Riok3 |
C |
T |
18: 12,276,017 (GRCm39) |
R238C |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sccpdh |
G |
T |
1: 179,504,025 (GRCm39) |
G125W |
probably damaging |
Het |
| Skint11 |
T |
A |
4: 114,051,925 (GRCm39) |
L91H |
probably damaging |
Het |
| Slc25a45 |
A |
G |
19: 5,928,725 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
C |
T |
9: 102,954,128 (GRCm39) |
Q370* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,250,087 (GRCm39) |
S474P |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,350,719 (GRCm39) |
T53K |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,595,588 (GRCm39) |
T1298A |
possibly damaging |
Het |
| Tmem161a |
C |
T |
8: 70,633,887 (GRCm39) |
Q183* |
probably null |
Het |
| Trim26 |
C |
A |
17: 37,161,797 (GRCm39) |
A72E |
probably damaging |
Het |
| Trmt11 |
A |
T |
10: 30,435,169 (GRCm39) |
I330K |
probably benign |
Het |
| Tspan1 |
A |
G |
4: 116,021,052 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,194,561 (GRCm39) |
C4286* |
probably null |
Het |
| Unc13a |
T |
C |
8: 72,105,158 (GRCm39) |
|
probably null |
Het |
| Vmn1r20 |
T |
A |
6: 57,409,583 (GRCm39) |
F303Y |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,190,979 (GRCm39) |
|
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,661,699 (GRCm39) |
D585N |
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,993,001 (GRCm39) |
L791F |
probably damaging |
Het |
| Zfp319 |
C |
A |
8: 96,055,589 (GRCm39) |
V205F |
probably damaging |
Het |
| Zscan25 |
A |
T |
5: 145,227,512 (GRCm39) |
H392L |
probably damaging |
Het |
| Zswim6 |
A |
T |
13: 107,884,786 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02358:Ercc6l2
|
APN |
13 |
64,001,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation