Incidental Mutation 'IGL01324:Xab2'
| ID |
74169 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xab2
|
| Ensembl Gene |
ENSMUSG00000019470 |
| Gene Name |
XPA binding protein 2 |
| Synonyms |
0610041O14Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
3660089-3671311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3671232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 16
(V16A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004749]
[ENSMUST00000019614]
[ENSMUST00000128566]
[ENSMUST00000133459]
[ENSMUST00000136105]
[ENSMUST00000142431]
[ENSMUST00000144977]
[ENSMUST00000159235]
[ENSMUST00000207389]
[ENSMUST00000207428]
[ENSMUST00000208950]
[ENSMUST00000156380]
|
| AlphaFold |
Q9DCD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004749
|
| SMART Domains |
Protein: ENSMUSP00000004749
Gene: ENSMUSG00000004630
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
26 |
48 |
4.47e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019614
AA Change: V16A
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: V16A
| Domain | Start | End | E-Value | Type |
|---|
|
HAT
|
48 |
80 |
7.56e0 |
SMART |
|
HAT
|
93 |
122 |
1.92e2 |
SMART |
|
HAT
|
124 |
158 |
4.89e-2 |
SMART |
|
HAT
|
270 |
305 |
3.82e-4 |
SMART |
|
low complexity region
|
316 |
333 |
N/A |
INTRINSIC |
|
HAT
|
409 |
445 |
1.88e1 |
SMART |
|
HAT
|
447 |
496 |
2.32e2 |
SMART |
|
HAT
|
498 |
530 |
1.56e1 |
SMART |
|
HAT
|
532 |
566 |
5.84e0 |
SMART |
|
HAT
|
571 |
605 |
3.62e-5 |
SMART |
|
Blast:HAT
|
607 |
641 |
3e-14 |
BLAST |
|
Blast:HAT
|
643 |
677 |
2e-15 |
BLAST |
|
HAT
|
679 |
713 |
2.77e-1 |
SMART |
|
low complexity region
|
771 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
836 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128566
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133459
|
| SMART Domains |
Protein: ENSMUSP00000122902
Gene: ENSMUSG00000004630
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
7 |
29 |
3.29e-6 |
SMART |
|
GoLoco
|
47 |
69 |
4.47e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136105
|
| SMART Domains |
Protein: ENSMUSP00000121079
Gene: ENSMUSG00000004630
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
23 |
45 |
3.29e-6 |
SMART |
|
GoLoco
|
63 |
85 |
4.47e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142431
|
| SMART Domains |
Protein: ENSMUSP00000121403
Gene: ENSMUSG00000004630
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
26 |
48 |
4.47e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144977
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159235
AA Change: V16A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124237
Gene: ENSMUSG00000019470
AA Change: V16A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HAT
|
12 |
47 |
2e-13 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159548
AA Change: V13A
|
| SMART Domains |
Protein: ENSMUSP00000124202
Gene: ENSMUSG00000019470
AA Change: V13A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HAT
|
10 |
44 |
4e-12 |
BLAST |
|
HAT
|
46 |
78 |
7.56e0 |
SMART |
|
HAT
|
91 |
120 |
1.92e2 |
SMART |
|
HAT
|
122 |
156 |
4.89e-2 |
SMART |
|
Blast:HAT
|
157 |
190 |
4e-12 |
BLAST |
|
Pfam:TPR_2
|
243 |
272 |
2.2e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207257
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145855
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208185
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156380
|
| SMART Domains |
Protein: ENSMUSP00000137626
Gene: ENSMUSG00000087687
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2346
|
1 |
72 |
2.2e-31 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,980,396 (GRCm39) |
G560D |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,559,414 (GRCm39) |
D239E |
possibly damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,120 (GRCm39) |
T482S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,501,225 (GRCm39) |
L58P |
probably damaging |
Het |
| Camsap1 |
C |
A |
2: 25,823,635 (GRCm39) |
V1472L |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,819,884 (GRCm39) |
E569V |
probably damaging |
Het |
| Commd6 |
G |
A |
14: 101,877,738 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,593,299 (GRCm39) |
R1189C |
probably damaging |
Het |
| Ern2 |
T |
A |
7: 121,782,413 (GRCm39) |
I68F |
possibly damaging |
Het |
| Eya4 |
A |
G |
10: 22,992,449 (GRCm39) |
|
probably null |
Het |
| Gda |
A |
T |
19: 21,387,250 (GRCm39) |
I325K |
probably damaging |
Het |
| Gmnn |
T |
C |
13: 24,936,105 (GRCm39) |
T190A |
probably benign |
Het |
| Hdac4 |
G |
A |
1: 91,887,137 (GRCm39) |
P801S |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,903 (GRCm39) |
*72K |
probably null |
Het |
| Hoxd12 |
A |
T |
2: 74,505,480 (GRCm39) |
N17I |
probably damaging |
Het |
| Incenp |
G |
A |
19: 9,861,092 (GRCm39) |
R497C |
unknown |
Het |
| Iqsec1 |
C |
A |
6: 90,666,685 (GRCm39) |
R584L |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,595,603 (GRCm39) |
M1T |
probably null |
Het |
| Kcnu1 |
T |
A |
8: 26,339,735 (GRCm39) |
S18T |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,625,265 (GRCm39) |
D473E |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,167 (GRCm39) |
T564A |
probably damaging |
Het |
| Nsd3 |
C |
T |
8: 26,152,836 (GRCm39) |
T392I |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,636,054 (GRCm39) |
S231P |
probably damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,297 (GRCm39) |
I163T |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,010,984 (GRCm39) |
D333G |
probably damaging |
Het |
| Parg |
T |
C |
14: 32,018,142 (GRCm39) |
|
probably benign |
Het |
| Psmc2 |
G |
A |
5: 22,005,007 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,338,063 (GRCm39) |
Y3354C |
probably damaging |
Het |
| Siglec1 |
T |
G |
2: 130,927,461 (GRCm39) |
D115A |
probably damaging |
Het |
| Slit3 |
G |
T |
11: 35,501,529 (GRCm39) |
G421V |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,716,358 (GRCm39) |
H590L |
probably damaging |
Het |
| Stk36 |
A |
C |
1: 74,664,769 (GRCm39) |
T628P |
possibly damaging |
Het |
| Stx12 |
A |
T |
4: 132,590,576 (GRCm39) |
M107K |
probably benign |
Het |
| Syne2 |
G |
T |
12: 76,090,526 (GRCm39) |
V5105F |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,256,727 (GRCm39) |
S1650G |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,522 (GRCm39) |
N685S |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,905,409 (GRCm39) |
V60A |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,617,268 (GRCm39) |
R334W |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,336,422 (GRCm39) |
E15G |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,581,189 (GRCm39) |
V3690L |
probably benign |
Het |
|
| Other mutations in Xab2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Xab2
|
APN |
8 |
3,661,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Xab2
|
APN |
8 |
3,666,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01340:Xab2
|
APN |
8 |
3,664,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01613:Xab2
|
APN |
8 |
3,660,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02622:Xab2
|
APN |
8 |
3,661,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02809:Xab2
|
APN |
8 |
3,660,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0066:Xab2
|
UTSW |
8 |
3,663,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Xab2
|
UTSW |
8 |
3,663,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Xab2
|
UTSW |
8 |
3,660,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Xab2
|
UTSW |
8 |
3,663,605 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0735:Xab2
|
UTSW |
8 |
3,663,649 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0943:Xab2
|
UTSW |
8 |
3,663,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1507:Xab2
|
UTSW |
8 |
3,666,031 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1664:Xab2
|
UTSW |
8 |
3,669,068 (GRCm39) |
splice site |
probably null |
|
|
R1954:Xab2
|
UTSW |
8 |
3,666,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1955:Xab2
|
UTSW |
8 |
3,666,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3767:Xab2
|
UTSW |
8 |
3,669,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4399:Xab2
|
UTSW |
8 |
3,664,244 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4421:Xab2
|
UTSW |
8 |
3,664,244 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4440:Xab2
|
UTSW |
8 |
3,666,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4553:Xab2
|
UTSW |
8 |
3,661,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4580:Xab2
|
UTSW |
8 |
3,660,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Xab2
|
UTSW |
8 |
3,668,105 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4707:Xab2
|
UTSW |
8 |
3,668,117 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5522:Xab2
|
UTSW |
8 |
3,661,718 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6063:Xab2
|
UTSW |
8 |
3,663,051 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6273:Xab2
|
UTSW |
8 |
3,661,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6487:Xab2
|
UTSW |
8 |
3,663,879 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7140:Xab2
|
UTSW |
8 |
3,668,117 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7648:Xab2
|
UTSW |
8 |
3,660,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7767:Xab2
|
UTSW |
8 |
3,669,018 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7992:Xab2
|
UTSW |
8 |
3,668,622 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8116:Xab2
|
UTSW |
8 |
3,663,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Xab2
|
UTSW |
8 |
3,663,389 (GRCm39) |
missense |
probably benign |
|
|
R8717:Xab2
|
UTSW |
8 |
3,663,845 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8759:Xab2
|
UTSW |
8 |
3,661,672 (GRCm39) |
missense |
probably benign |
|
|
R8840:Xab2
|
UTSW |
8 |
3,663,254 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8952:Xab2
|
UTSW |
8 |
3,663,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Xab2
|
UTSW |
8 |
3,668,641 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9287:Xab2
|
UTSW |
8 |
3,663,000 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9596:Xab2
|
UTSW |
8 |
3,663,018 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9799:Xab2
|
UTSW |
8 |
3,668,182 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1176:Xab2
|
UTSW |
8 |
3,668,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation