Incidental Mutation 'IGL01613:Xab2'
| ID |
92252 |
| 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 # |
IGL01613
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
3660089-3671311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3660880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 745
(M745V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019614]
[ENSMUST00000057028]
[ENSMUST00000171962]
[ENSMUST00000207970]
[ENSMUST00000207533]
[ENSMUST00000207712]
[ENSMUST00000208240]
[ENSMUST00000207077]
[ENSMUST00000207432]
|
| AlphaFold |
Q9DCD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019614
AA Change: M745V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: M745V
| 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: 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207533
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207432
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
G |
5: 125,589,716 (GRCm39) |
M446R |
possibly damaging |
Het |
| Abca16 |
A |
G |
7: 120,140,500 (GRCm39) |
N1599S |
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,763,146 (GRCm39) |
Q528* |
probably null |
Het |
| Ano10 |
A |
T |
9: 122,088,606 (GRCm39) |
L347M |
possibly damaging |
Het |
| Bag6 |
T |
C |
17: 35,361,992 (GRCm39) |
|
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,086,191 (GRCm39) |
V182A |
possibly damaging |
Het |
| Capn13 |
G |
T |
17: 73,638,053 (GRCm39) |
T450N |
probably benign |
Het |
| Cbr3 |
A |
T |
16: 93,480,331 (GRCm39) |
E40V |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,955,126 (GRCm39) |
I159T |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,152,382 (GRCm39) |
D65G |
possibly damaging |
Het |
| Csf2rb |
T |
G |
15: 78,219,502 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,497,713 (GRCm39) |
H687R |
probably benign |
Het |
| Elovl1 |
T |
C |
4: 118,288,467 (GRCm39) |
V108A |
probably benign |
Het |
| Emb |
T |
A |
13: 117,408,614 (GRCm39) |
N318K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,617,339 (GRCm39) |
L36P |
probably damaging |
Het |
| Esco2 |
T |
G |
14: 66,064,044 (GRCm39) |
H380P |
possibly damaging |
Het |
| Gm9747 |
G |
A |
1: 82,211,809 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,910,138 (GRCm39) |
M603T |
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,550,743 (GRCm39) |
V411A |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
| Ints11 |
T |
C |
4: 155,969,655 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,258,112 (GRCm39) |
A253S |
probably damaging |
Het |
| Met |
A |
G |
6: 17,540,576 (GRCm39) |
Y834C |
probably damaging |
Het |
| Mgl2 |
A |
G |
11: 70,024,984 (GRCm39) |
T2A |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,088,170 (GRCm39) |
V1929L |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,192,536 (GRCm39) |
S1472P |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,248,555 (GRCm39) |
|
probably benign |
Het |
| Ndufaf7 |
A |
G |
17: 79,244,931 (GRCm39) |
I17V |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,666,152 (GRCm39) |
T46A |
probably damaging |
Het |
| Or5ak22 |
C |
T |
2: 85,230,515 (GRCm39) |
D121N |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,284 (GRCm39) |
S230T |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,492 (GRCm39) |
I248M |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,617 (GRCm39) |
|
probably benign |
Het |
| Or8b50 |
A |
G |
9: 38,517,850 (GRCm39) |
I30V |
probably null |
Het |
| Or8k1 |
T |
G |
2: 86,047,505 (GRCm39) |
D183A |
probably damaging |
Het |
| Ppef2 |
T |
C |
5: 92,383,679 (GRCm39) |
E477G |
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,387,097 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
C |
A |
2: 66,116,281 (GRCm39) |
D1473Y |
probably damaging |
Het |
| Sdr42e1 |
C |
T |
8: 118,389,676 (GRCm39) |
V322I |
probably benign |
Het |
| Slco1a7 |
G |
T |
6: 141,658,940 (GRCm39) |
T552K |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,035,960 (GRCm39) |
A1089T |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,183 (GRCm39) |
F108L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,805,308 (GRCm39) |
N177S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,031,872 (GRCm39) |
D401G |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,614,067 (GRCm39) |
F650L |
possibly damaging |
Het |
| Wdr12 |
T |
C |
1: 60,119,718 (GRCm39) |
H385R |
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 |
|
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 |
2013-12-09 |
Incidental Mutation