Incidental Mutation 'R9034:Ercc6l2'
| ID |
687246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ercc6l2
|
| Ensembl Gene |
ENSMUSG00000021470 |
| Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 6 like 2 |
| Synonyms |
0610007P08Rik, 9330134C04Rik, 1700019D06Rik |
| MMRRC Submission |
068863-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.278)
|
| Stock # |
R9034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
63963054-64048116 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63992447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 299
(S299P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021925]
[ENSMUST00000021926]
[ENSMUST00000067821]
[ENSMUST00000095724]
[ENSMUST00000142827]
[ENSMUST00000159957]
|
| AlphaFold |
Q9JIM3 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: S414P
| 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: S299P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: S299P
| 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 |
possibly damaging
Transcript: ENSMUST00000067821
AA Change: S414P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: S414P
| 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 benign
Transcript: ENSMUST00000142827
|
| SMART Domains |
Protein: ENSMUSP00000115796
Gene: ENSMUSG00000021470
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEAD
|
1 |
144 |
5.4e-6 |
PFAM |
|
Pfam:SNF2_N
|
3 |
144 |
1e-26 |
PFAM |
|
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
| Acvr2a |
T |
C |
2: 48,763,381 (GRCm39) |
Y142H |
probably damaging |
Het |
| Agfg1 |
C |
T |
1: 82,853,913 (GRCm39) |
Q188* |
probably null |
Het |
| Akap11 |
C |
A |
14: 78,748,299 (GRCm39) |
V1363F |
|
Het |
| Aldh3a1 |
A |
G |
11: 61,104,475 (GRCm39) |
T121A |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,387,180 (GRCm39) |
D1491E |
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,952,268 (GRCm39) |
T617A |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,728,359 (GRCm39) |
M362V |
|
Het |
| Cant1 |
T |
A |
11: 118,302,128 (GRCm39) |
H63L |
probably benign |
Het |
| Cdkn2aip |
C |
A |
8: 48,164,243 (GRCm39) |
C490F |
probably damaging |
Het |
| Cenpn |
T |
A |
8: 117,661,478 (GRCm39) |
D192E |
probably benign |
Het |
| Clint1 |
C |
A |
11: 45,799,782 (GRCm39) |
L514M |
probably benign |
Het |
| Clint1 |
T |
A |
11: 45,799,783 (GRCm39) |
L514Q |
possibly damaging |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,089 (GRCm39) |
F419S |
probably damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,122,417 (GRCm39) |
A328E |
probably benign |
Het |
| F13b |
T |
C |
1: 139,435,961 (GRCm39) |
C256R |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,141 (GRCm39) |
T75A |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,532,952 (GRCm39) |
M69V |
probably benign |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,142,065 (GRCm39) |
E785K |
probably damaging |
Het |
| H2-M2 |
A |
T |
17: 37,792,176 (GRCm39) |
S325T |
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,795,885 (GRCm39) |
S261P |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,347,351 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,083,273 (GRCm39) |
V4A |
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,862,996 (GRCm39) |
|
probably benign |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,161 (GRCm39) |
N153K |
probably benign |
Het |
| Mfsd14b |
G |
T |
13: 65,223,500 (GRCm39) |
A178E |
probably damaging |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
A |
T |
14: 55,185,596 (GRCm39) |
I1531N |
possibly damaging |
Het |
| Myo7a |
G |
T |
7: 97,728,465 (GRCm39) |
A836D |
probably benign |
Het |
| Ncam1 |
A |
T |
9: 49,481,198 (GRCm39) |
S19T |
probably benign |
Het |
| Nes |
T |
A |
3: 87,885,735 (GRCm39) |
D1331E |
probably damaging |
Het |
| Nsd2 |
G |
A |
5: 34,037,478 (GRCm39) |
R700Q |
possibly damaging |
Het |
| Nxt1 |
A |
T |
2: 148,517,331 (GRCm39) |
Y24F |
possibly damaging |
Het |
| Or14c39 |
G |
A |
7: 86,343,969 (GRCm39) |
V102I |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,293,835 (GRCm39) |
H248L |
probably damaging |
Het |
| Or5g24-ps1 |
A |
T |
2: 85,464,144 (GRCm39) |
T124S |
probably benign |
Het |
| Or6f2 |
G |
A |
7: 139,756,884 (GRCm39) |
V284I |
probably benign |
Het |
| Or8b40 |
G |
A |
9: 38,027,550 (GRCm39) |
V158M |
possibly damaging |
Het |
| Or8g50 |
G |
A |
9: 39,648,886 (GRCm39) |
M258I |
probably benign |
Het |
| Or9g20 |
G |
T |
2: 85,630,302 (GRCm39) |
A104E |
possibly damaging |
Het |
| Pex5l |
T |
A |
3: 33,006,683 (GRCm39) |
Q562L |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,197 (GRCm39) |
Y1139C |
probably damaging |
Het |
| Prelp |
T |
C |
1: 133,842,329 (GRCm39) |
N272S |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,841,416 (GRCm39) |
K188R |
probably damaging |
Het |
| Sbno2 |
G |
A |
10: 79,898,591 (GRCm39) |
R624W |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,927,642 (GRCm39) |
C1374S |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,361 (GRCm39) |
T103S |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,107,571 (GRCm39) |
E194G |
probably benign |
Het |
| Slc36a3 |
A |
T |
11: 55,016,515 (GRCm39) |
I360N |
probably damaging |
Het |
| Sphk1 |
T |
C |
11: 116,426,449 (GRCm39) |
V135A |
probably damaging |
Het |
| Tnfsf10 |
G |
A |
3: 27,389,379 (GRCm39) |
D147N |
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,671,177 (GRCm39) |
C22Y |
probably damaging |
Het |
| Trmt9b |
C |
T |
8: 36,978,954 (GRCm39) |
R186* |
probably null |
Het |
| Trp73 |
T |
C |
4: 154,152,088 (GRCm39) |
T187A |
probably benign |
Het |
| Tspan33 |
C |
T |
6: 29,717,611 (GRCm39) |
Q276* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,542,871 (GRCm39) |
G33372R |
probably damaging |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,680 (GRCm39) |
T193S |
probably benign |
Het |
| Vps54 |
T |
C |
11: 21,213,273 (GRCm39) |
F19L |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,296,179 (GRCm39) |
T856A |
probably damaging |
Het |
| Zscan4b |
A |
T |
7: 10,634,840 (GRCm39) |
Y468N |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTGCCCTGGTCAAATCC -3'
(R):5'- GATCACAGAACCTTTTAATGCACCC -3'
Sequencing Primer
(F):5'- CAAATCCAGTGCCCGTTGTGATG -3'
(R):5'- CTCTAGGGATCAGAACTAAGCTGTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation