Incidental Mutation 'IGL02622:Xab2'
ID |
300882 |
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 # |
IGL02622
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
3660089-3671311 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3661699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 585
(D585N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019614]
[ENSMUST00000057028]
[ENSMUST00000159235]
[ENSMUST00000207077]
[ENSMUST00000207533]
[ENSMUST00000207712]
[ENSMUST00000207970]
[ENSMUST00000207432]
[ENSMUST00000208240]
[ENSMUST00000171962]
|
AlphaFold |
Q9DCD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019614
AA Change: D585N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000019614 Gene: ENSMUSG00000019470 AA Change: D585N
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: ENSMUST00000207077
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207533
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207712
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208240
|
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 |
|
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: 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 |
Ercc6l2 |
T |
A |
13: 64,001,437 (GRCm39) |
|
probably null |
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 |
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 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 |
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 |
2015-04-16 |