Incidental Mutation 'R0735:Xab2'
| ID |
68233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xab2
|
| Ensembl Gene |
ENSMUSG00000019470 |
| Gene Name |
XPA binding protein 2 |
| Synonyms |
0610041O14Rik |
| MMRRC Submission |
038916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0735 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3660089-3671311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3663649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 394
(P394S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019614]
[ENSMUST00000057028]
[ENSMUST00000159235]
[ENSMUST00000207712]
[ENSMUST00000207970]
[ENSMUST00000208240]
[ENSMUST00000207077]
[ENSMUST00000207432]
[ENSMUST00000207533]
[ENSMUST00000171962]
|
| AlphaFold |
Q9DCD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019614
AA Change: P394S
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: P394S
| 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: ENSMUST00000057028
|
| SMART Domains |
Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
|
Pfam:CH
|
166 |
315 |
5.5e-27 |
PFAM |
|
Pfam:CAMSAP_CH
|
214 |
296 |
1.2e-29 |
PFAM |
|
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
|
coiled coil region
|
595 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
655 |
N/A |
INTRINSIC |
|
coiled coil region
|
696 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
881 |
N/A |
INTRINSIC |
|
coiled coil region
|
900 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1024 |
N/A |
INTRINSIC |
|
CAMSAP_CKK
|
1111 |
1240 |
1.29e-86 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159235
|
| SMART Domains |
Protein: ENSMUSP00000124237
Gene: ENSMUSG00000019470
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HAT
|
12 |
47 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159548
|
| SMART Domains |
Protein: ENSMUSP00000124202
Gene: ENSMUSG00000019470
| 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: ENSMUST00000159909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207533
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171962
|
| SMART Domains |
Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
|
Pfam:CAMSAP_CH
|
214 |
296 |
6e-31 |
PFAM |
|
low complexity region
|
360 |
374 |
N/A |
INTRINSIC |
|
Pfam:CAMSAP_CC1
|
587 |
645 |
1.1e-27 |
PFAM |
|
low complexity region
|
646 |
656 |
N/A |
INTRINSIC |
|
coiled coil region
|
697 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
882 |
N/A |
INTRINSIC |
|
coiled coil region
|
901 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1025 |
N/A |
INTRINSIC |
|
CAMSAP_CKK
|
1112 |
1241 |
1.29e-86 |
SMART |
|
| Meta Mutation Damage Score |
0.1255 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 91.8%
|
| Validation Efficiency |
95% (73/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
A |
14: 29,711,669 (GRCm39) |
M405K |
probably benign |
Het |
| Adam10 |
G |
A |
9: 70,655,533 (GRCm39) |
V334I |
possibly damaging |
Het |
| Adgra2 |
G |
T |
8: 27,607,346 (GRCm39) |
G686C |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,518 (GRCm39) |
I1623N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,299,959 (GRCm39) |
T100S |
possibly damaging |
Het |
| B3galt1 |
A |
C |
2: 67,948,923 (GRCm39) |
I213L |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,236 (GRCm39) |
K101E |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,695,038 (GRCm39) |
I1552K |
possibly damaging |
Het |
| Camsap2 |
A |
G |
1: 136,220,626 (GRCm39) |
S324P |
probably damaging |
Het |
| Chrnb4 |
A |
G |
9: 54,951,084 (GRCm39) |
S60P |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,670 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
A |
2: 13,496,500 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cxcl15 |
T |
C |
5: 90,949,153 (GRCm39) |
M106T |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,005,249 (GRCm39) |
M140K |
probably damaging |
Het |
| Dgke |
A |
G |
11: 88,950,901 (GRCm39) |
F104S |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,380,150 (GRCm39) |
M849L |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,583,670 (GRCm39) |
E1522K |
possibly damaging |
Het |
| Edil3 |
G |
T |
13: 89,325,297 (GRCm39) |
V219F |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 125,675,234 (GRCm39) |
V187A |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,596,722 (GRCm39) |
I455T |
possibly damaging |
Het |
| Fdft1 |
A |
T |
14: 63,400,869 (GRCm39) |
I88N |
probably damaging |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Frs2 |
T |
A |
10: 116,910,487 (GRCm39) |
S292C |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
| Gpr153 |
T |
A |
4: 152,363,830 (GRCm39) |
C83* |
probably null |
Het |
| H2-Q7 |
T |
G |
17: 35,659,162 (GRCm39) |
|
probably null |
Het |
| Hsp90b1 |
A |
T |
10: 86,531,612 (GRCm39) |
|
probably benign |
Het |
| Kcnk1 |
C |
A |
8: 126,752,028 (GRCm39) |
N211K |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,537,070 (GRCm39) |
V800A |
probably benign |
Het |
| Lat2 |
T |
C |
5: 134,635,637 (GRCm39) |
Y59C |
probably damaging |
Het |
| Mlkl |
A |
T |
8: 112,054,433 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,426,338 (GRCm39) |
C93* |
probably null |
Het |
| Myo7a |
A |
G |
7: 97,730,387 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,449,180 (GRCm39) |
|
probably benign |
Het |
| Ogfrl1 |
T |
C |
1: 23,414,835 (GRCm39) |
Q224R |
possibly damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,569 (GRCm39) |
T276A |
probably benign |
Het |
| Or56b2 |
A |
T |
7: 104,338,026 (GRCm39) |
H268L |
probably damaging |
Het |
| Osbpl2 |
A |
G |
2: 179,792,083 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,824,781 (GRCm39) |
T533A |
possibly damaging |
Het |
| Plb1 |
C |
T |
5: 32,442,264 (GRCm39) |
T252M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,166,674 (GRCm39) |
T657A |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rps6kb2 |
C |
A |
19: 4,207,882 (GRCm39) |
S348I |
probably benign |
Het |
| Rsrp1 |
C |
T |
4: 134,651,568 (GRCm39) |
R111W |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,563,327 (GRCm39) |
T2933A |
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,968,468 (GRCm39) |
D247G |
possibly damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,378,545 (GRCm39) |
S231N |
probably benign |
Het |
| Sod2 |
A |
T |
17: 13,229,451 (GRCm39) |
N91Y |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,179,967 (GRCm39) |
S314T |
probably benign |
Het |
| St3gal1 |
C |
A |
15: 66,985,536 (GRCm39) |
M39I |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,494,110 (GRCm39) |
I646F |
probably damaging |
Het |
| Tdrd1 |
A |
T |
19: 56,854,410 (GRCm39) |
K1119* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,900,077 (GRCm39) |
I600T |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,853,850 (GRCm39) |
V160A |
probably damaging |
Het |
| Trdmt1 |
T |
G |
2: 13,528,249 (GRCm39) |
D104A |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,219 (GRCm39) |
V393A |
probably benign |
Het |
| Trip4 |
C |
T |
9: 65,792,200 (GRCm39) |
|
probably benign |
Het |
| Trip6 |
T |
C |
5: 137,309,083 (GRCm39) |
E341G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,545,539 (GRCm39) |
I32595F |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,155,339 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,596,890 (GRCm39) |
V3877I |
probably benign |
Het |
| Vmn1r29 |
G |
T |
6: 58,284,717 (GRCm39) |
G146C |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,707 (GRCm39) |
V704A |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,623,788 (GRCm39) |
M268I |
probably benign |
Het |
| Wnt7b |
G |
A |
15: 85,421,696 (GRCm39) |
T248M |
probably damaging |
Het |
| Zfp663 |
A |
G |
2: 165,200,995 (GRCm39) |
V13A |
probably damaging |
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 |
|
IGL01324:Xab2
|
APN |
8 |
3,671,232 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCATCCACCTGCTTGAAGTTCAC -3'
(R):5'- ATAGTGTCCTTCTGCGCCAGAACC -3'
Sequencing Primer
(F):5'- CTGCTTGAAGTTCACCTTGG -3'
(R):5'- AAGCGTGTAGCCCTCCATC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation