Incidental Mutation 'R9799:Xab2'
| ID |
735101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xab2
|
| Ensembl Gene |
ENSMUSG00000019470 |
| Gene Name |
XPA binding protein 2 |
| Synonyms |
0610041O14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
3660089-3671311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3668182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 132
(T132N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019614]
[ENSMUST00000156380]
[ENSMUST00000159235]
[ENSMUST00000207389]
[ENSMUST00000207428]
[ENSMUST00000208950]
|
| AlphaFold |
Q9DCD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019614
AA Change: T132N
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: T132N
| 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: ENSMUST00000156380
|
| SMART Domains |
Protein: ENSMUSP00000137626
Gene: ENSMUSG00000087687
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2346
|
1 |
72 |
2.2e-31 |
PFAM |
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124202
Gene: ENSMUSG00000019470
AA Change: T129N
| 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 |
probably benign
Transcript: ENSMUST00000207389
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208950
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,132,998 (GRCm39) |
Y1309C |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,768,961 (GRCm39) |
T1056A |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,805,489 (GRCm39) |
R826S |
probably damaging |
Het |
| Agxt |
T |
C |
1: 93,063,070 (GRCm39) |
W19R |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,333,278 (GRCm39) |
E52K |
possibly damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,990,268 (GRCm39) |
Y248H |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,855,391 (GRCm39) |
D232G |
unknown |
Het |
| Arid4b |
T |
C |
13: 14,358,967 (GRCm39) |
S668P |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,417,505 (GRCm39) |
S775R |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,377,799 (GRCm39) |
F20L |
unknown |
Het |
| Cimap1a |
A |
T |
7: 140,430,706 (GRCm39) |
E254D |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,842,988 (GRCm39) |
H218L |
probably benign |
Het |
| Csnka2ip |
T |
C |
16: 64,298,672 (GRCm39) |
K564R |
unknown |
Het |
| Cyp2r1 |
A |
G |
7: 114,151,207 (GRCm39) |
F371L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,469,812 (GRCm39) |
F392I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,968 (GRCm39) |
T2149A |
probably benign |
Het |
| Emx2 |
A |
G |
19: 59,448,036 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Erbin |
T |
C |
13: 103,971,384 (GRCm39) |
D744G |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,258,924 (GRCm39) |
N140S |
probably damaging |
Het |
| Gnai2 |
C |
T |
9: 107,512,380 (GRCm39) |
A13T |
probably benign |
Het |
| Gpr150 |
T |
C |
13: 76,204,636 (GRCm39) |
Y103C |
possibly damaging |
Het |
| Gstp2 |
A |
G |
19: 4,091,901 (GRCm39) |
|
probably null |
Het |
| Kdr |
A |
G |
5: 76,117,752 (GRCm39) |
I667T |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,612,400 (GRCm39) |
I534T |
|
Het |
| Lrrtm3 |
T |
A |
10: 63,925,749 (GRCm39) |
|
probably benign |
Het |
| Meiob |
C |
T |
17: 25,042,574 (GRCm39) |
T134I |
probably benign |
Het |
| Msh2 |
G |
T |
17: 88,024,933 (GRCm39) |
A604S |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,062,780 (GRCm39) |
T319A |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,490,181 (GRCm39) |
T1514I |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,496,400 (GRCm39) |
M98T |
possibly damaging |
Het |
| Nfatc2ip |
A |
G |
7: 125,989,739 (GRCm39) |
V215A |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,065 (GRCm39) |
T46S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,732 (GRCm39) |
M118K |
probably damaging |
Het |
| Pabpc6 |
C |
T |
17: 9,888,114 (GRCm39) |
E146K |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,122,613 (GRCm39) |
Y727C |
probably damaging |
Het |
| Pemt |
A |
G |
11: 59,937,174 (GRCm39) |
F30L |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,591 (GRCm39) |
S1438P |
possibly damaging |
Het |
| Pnma2 |
T |
A |
14: 67,154,009 (GRCm39) |
H144Q |
probably benign |
Het |
| Ppp1r14b |
A |
G |
19: 6,952,825 (GRCm39) |
N70S |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,054,236 (GRCm39) |
M725K |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,858,489 (GRCm39) |
K533E |
probably benign |
Het |
| Rb1cc1 |
C |
A |
1: 6,315,126 (GRCm39) |
H426Q |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,027,641 (GRCm39) |
E355G |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,578,182 (GRCm39) |
F170L |
probably damaging |
Het |
| Sema3f |
G |
T |
9: 107,562,562 (GRCm39) |
A473E |
probably damaging |
Het |
| Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
| Siglec1 |
G |
T |
2: 130,915,941 (GRCm39) |
P1307Q |
probably damaging |
Het |
| Srd5a2 |
A |
C |
17: 74,331,535 (GRCm39) |
I154S |
possibly damaging |
Het |
| Sugp1 |
A |
G |
8: 70,523,068 (GRCm39) |
E537G |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,074 (GRCm39) |
E91G |
possibly damaging |
Het |
| Tiparp |
A |
T |
3: 65,454,973 (GRCm39) |
N373Y |
probably benign |
Het |
| Tmem217 |
A |
C |
17: 29,745,232 (GRCm39) |
I166S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,563,406 (GRCm39) |
Y746N |
probably damaging |
Het |
| Tubb2a |
C |
T |
13: 34,260,607 (GRCm39) |
D31N |
probably benign |
Het |
| Utrn |
T |
G |
10: 12,585,736 (GRCm39) |
I1014L |
probably benign |
Het |
| Vtn |
T |
C |
11: 78,392,625 (GRCm39) |
I401T |
probably benign |
Het |
| Wwc2 |
G |
T |
8: 48,321,595 (GRCm39) |
H506Q |
unknown |
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 |
|
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 |
|
Z1176:Xab2
|
UTSW |
8 |
3,668,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATGTTTGGAAGCCTACC -3'
(R):5'- GCTTGAGGAAATAATGACTCTCTTGG -3'
Sequencing Primer
(F):5'- CCTAGGAACTGGTCACTTCAATGG -3'
(R):5'- GACTCTCTTGGGCTTATTTACAGAGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation