Incidental Mutation 'R0943:Xab2'
| ID |
81965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xab2
|
| Ensembl Gene |
ENSMUSG00000019470 |
| Gene Name |
XPA binding protein 2 |
| Synonyms |
0610041O14Rik |
| MMRRC Submission |
039082-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3660089-3671311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3663667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 388
(F388L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019614]
[ENSMUST00000057028]
[ENSMUST00000159235]
[ENSMUST00000207077]
[ENSMUST00000207432]
[ENSMUST00000208240]
[ENSMUST00000207533]
[ENSMUST00000207712]
[ENSMUST00000207970]
[ENSMUST00000171962]
|
| AlphaFold |
Q9DCD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019614
AA Change: F388L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: F388L
| 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: ENSMUST00000207432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207533
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208064
|
| 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 |
0.0588 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
97% (36/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
T |
C |
13: 59,648,416 (GRCm39) |
N468S |
probably benign |
Het |
| Card6 |
A |
G |
15: 5,129,768 (GRCm39) |
S543P |
probably damaging |
Het |
| Celsr1 |
T |
G |
15: 85,787,489 (GRCm39) |
T2750P |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,539,135 (GRCm39) |
M2341T |
probably damaging |
Het |
| Dym |
A |
G |
18: 75,419,840 (GRCm39) |
*670W |
probably null |
Het |
| Ehbp1 |
T |
C |
11: 22,045,883 (GRCm39) |
D597G |
probably benign |
Het |
| Emx1 |
G |
A |
6: 85,180,901 (GRCm39) |
W206* |
probably null |
Het |
| Esr1 |
A |
G |
10: 4,696,781 (GRCm39) |
K210R |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
C |
T |
2: 85,319,109 (GRCm39) |
D398N |
probably damaging |
Het |
| Fam72a |
T |
C |
1: 131,456,517 (GRCm39) |
S27P |
possibly damaging |
Het |
| Fanca |
A |
T |
8: 124,000,925 (GRCm39) |
C1152S |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,874,402 (GRCm39) |
V2276I |
probably benign |
Het |
| Hoxb13 |
A |
G |
11: 96,086,799 (GRCm39) |
E202G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,000,662 (GRCm39) |
|
probably null |
Het |
| Nars2 |
C |
T |
7: 96,605,138 (GRCm39) |
|
probably benign |
Het |
| Neil3 |
ATATTTATTTATTTATTTATTTATTTATTTATT |
ATATTTATTTATTTATTTATTTATTTATTTATTTATT |
8: 54,062,404 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
T |
C |
13: 46,850,248 (GRCm39) |
|
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,305 (GRCm39) |
V45A |
probably benign |
Het |
| Or5b112 |
C |
A |
19: 13,319,157 (GRCm39) |
H12N |
probably benign |
Het |
| Prkar2a |
T |
C |
9: 108,610,475 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,038,902 (GRCm39) |
T209A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf26rt |
T |
C |
6: 76,473,398 (GRCm39) |
H406R |
probably benign |
Het |
| Rprd2 |
C |
T |
3: 95,691,559 (GRCm39) |
V239I |
possibly damaging |
Het |
| Sgo2b |
A |
G |
8: 64,384,369 (GRCm39) |
F209S |
possibly damaging |
Het |
| Shfl |
A |
T |
9: 20,784,258 (GRCm39) |
H160L |
possibly damaging |
Het |
| Spry2 |
T |
C |
14: 106,131,021 (GRCm39) |
Y55C |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,037,243 (GRCm39) |
V667E |
probably benign |
Het |
| Tbrg4 |
A |
G |
11: 6,569,008 (GRCm39) |
F388L |
probably damaging |
Het |
| Tmt1a |
T |
C |
15: 100,202,839 (GRCm39) |
Y20H |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,033,356 (GRCm39) |
T351A |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,371,781 (GRCm39) |
N969S |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,397 (GRCm39) |
C375* |
probably null |
Het |
| Vps45 |
T |
A |
3: 95,964,336 (GRCm39) |
I62F |
probably benign |
Het |
| Zfp735 |
A |
G |
11: 73,602,909 (GRCm39) |
T618A |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,748,342 (GRCm39) |
R279S |
possibly 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 |
|
R0735:Xab2
|
UTSW |
8 |
3,663,649 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- CTTCTCTAGGATGACACGAGC -3'
(R):5'- TCCACGAGTGGCACAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation