Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00924:Xab2'

28021

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) question?

Stock #

IGL00924

Quality Score

Status

Chromosome

Chromosomal Location

3608421-3621316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3611723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 577 (R577W)

Ref Sequence

ENSEMBL: ENSMUSP00000019614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019614] [ENSMUST00000057028] [ENSMUST00000159235] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000208240]

AlphaFold

Q9DCD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000019614
AA Change: R577W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: R577W

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: 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: ENSMUST00000207077

Predicted Effect

probably benign
Transcript: ENSMUST00000207152

Predicted Effect

probably benign
Transcript: ENSMUST00000207432

Predicted Effect

probably benign
Transcript: ENSMUST00000207533

Predicted Effect

probably benign
Transcript: ENSMUST00000207712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207930

Predicted Effect

probably benign
Transcript: ENSMUST00000207970

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208064

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,215,862	V112A	probably benign	Het
Atp1a4	T	A	1: 172,246,772	I305F	probably damaging	Het
AW209491	A	G	13: 14,637,075	N171S	probably damaging	Het
Bank1	G	T	3: 136,247,634	A120E	probably damaging	Het
Bdp1	T	A	13: 100,097,579	E206D	possibly damaging	Het
Brd1	T	C	15: 88,729,409	K428E	possibly damaging	Het
C530008M17Rik	A	G	5: 76,858,986	T1065A	unknown	Het
Ccdc42	A	G	11: 68,594,621	I191V	probably benign	Het
Coa7	G	T	4: 108,338,308	G145C	possibly damaging	Het
Cpm	T	G	10: 117,676,066	I305S	probably damaging	Het
Dlc1	A	T	8: 36,938,214	S140R	probably benign	Het
Dnajc14	A	G	10: 128,817,319	T674A	probably benign	Het
Dnajc7	A	G	11: 100,584,285	I437T	possibly damaging	Het
Entpd5	A	T	12: 84,387,054	V147E	probably damaging	Het
Gpr139	A	G	7: 119,184,287	C30R	probably benign	Het
Habp4	A	G	13: 64,174,071	D174G	probably damaging	Het
Has3	T	C	8: 106,878,599	F479S	probably benign	Het
Helb	T	A	10: 120,110,984	K141N	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kdm1b	G	A	13: 47,068,480	R465H	probably benign	Het
Lrrc57	A	T	2: 120,606,051	M86K	possibly damaging	Het
Map7d1	A	G	4: 126,238,605	V258A	probably damaging	Het
Mybbp1a	T	A	11: 72,443,567	F216Y	probably damaging	Het
Ncan	T	A	8: 70,108,389	M643L	possibly damaging	Het
Ngdn	T	C	14: 55,023,169	I278T	probably damaging	Het
Olfr1199	T	C	2: 88,756,156	D173G	possibly damaging	Het
Olfr460	C	T	6: 40,571,454	R23C	probably benign	Het
P4hb	G	T	11: 120,563,818	Q245K	probably benign	Het
Pcx	G	A	19: 4,620,937	V1089I	probably benign	Het
Phc3	A	T	3: 30,936,475	M498K	probably damaging	Het
Pkd1	T	A	17: 24,571,627	L1025*	probably null	Het
Sdhaf2	G	A	19: 10,517,016	P110S	probably damaging	Het
Slc22a20	T	C	19: 5,970,516	K538E	probably benign	Het
Soga1	T	G	2: 157,040,705	M476L	probably damaging	Het
Spag11b	T	A	8: 19,142,640	V78D	probably damaging	Het
Tgm3	T	C	2: 130,038,374	C367R	probably damaging	Het
Unc5a	G	A	13: 55,004,514	E741K	probably damaging	Het
Vmn2r58	A	T	7: 41,837,467	L668H	probably damaging	Het
Wdr62	G	A	7: 30,265,218	T367I	probably damaging	Het
Wdr62	G	A	7: 30,242,806	P603S	probably damaging	Het

Other mutations in Xab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Xab2	APN	8	3616332	missense	probably benign	0.07
IGL01324:Xab2	APN	8	3621232	missense	possibly damaging	0.80
IGL01340:Xab2	APN	8	3614381	missense	probably damaging	1.00
IGL01613:Xab2	APN	8	3610880	missense	probably benign	0.01
IGL02622:Xab2	APN	8	3611699	missense	probably benign	0.01
IGL02809:Xab2	APN	8	3610175	missense	probably benign	0.00
R0066:Xab2	UTSW	8	3613880	missense	probably damaging	1.00
R0066:Xab2	UTSW	8	3613880	missense	probably damaging	1.00
R0544:Xab2	UTSW	8	3610994	missense	probably damaging	1.00
R0607:Xab2	UTSW	8	3613605	missense	probably benign	0.05
R0735:Xab2	UTSW	8	3613649	missense	possibly damaging	0.50
R0943:Xab2	UTSW	8	3613667	missense	probably benign	0.00
R1507:Xab2	UTSW	8	3616031	missense	possibly damaging	0.93
R1664:Xab2	UTSW	8	3619068	splice site	probably null
R1954:Xab2	UTSW	8	3616094	missense	probably damaging	0.96
R1955:Xab2	UTSW	8	3616094	missense	probably damaging	0.96
R3767:Xab2	UTSW	8	3619053	missense	probably damaging	1.00
R4399:Xab2	UTSW	8	3614244	critical splice donor site	probably null
R4421:Xab2	UTSW	8	3614244	critical splice donor site	probably null
R4440:Xab2	UTSW	8	3616353	missense	probably benign	0.01
R4553:Xab2	UTSW	8	3611015	missense	probably benign	0.00
R4580:Xab2	UTSW	8	3610162	missense	probably damaging	1.00
R4608:Xab2	UTSW	8	3618105	missense	probably benign	0.23
R4707:Xab2	UTSW	8	3618117	missense	possibly damaging	0.92
R5522:Xab2	UTSW	8	3611718	missense	probably benign	0.06
R6063:Xab2	UTSW	8	3613051	missense	possibly damaging	0.93
R6273:Xab2	UTSW	8	3611822	missense	probably damaging	1.00
R6487:Xab2	UTSW	8	3613879	missense	possibly damaging	0.75
R7140:Xab2	UTSW	8	3618117	missense	possibly damaging	0.92
R7648:Xab2	UTSW	8	3610638	missense	probably benign	0.00
R7767:Xab2	UTSW	8	3619018	missense	probably benign	0.08
R7992:Xab2	UTSW	8	3618622	missense	possibly damaging	0.81
R8116:Xab2	UTSW	8	3613830	missense	probably damaging	1.00
R8193:Xab2	UTSW	8	3613389	missense	probably benign
R8717:Xab2	UTSW	8	3613845	missense	probably benign	0.14
R8759:Xab2	UTSW	8	3611672	missense	probably benign
R8840:Xab2	UTSW	8	3613254	missense	probably benign	0.18
R8952:Xab2	UTSW	8	3613875	missense	probably damaging	1.00
R9044:Xab2	UTSW	8	3618641	missense	probably benign	0.21
R9287:Xab2	UTSW	8	3613000	missense	possibly damaging	0.94
R9596:Xab2	UTSW	8	3613018	missense	probably damaging	0.96
R9799:Xab2	UTSW	8	3618182	missense	probably benign	0.28
Z1176:Xab2	UTSW	8	3618969	missense	probably damaging	1.00

Posted On

2013-04-17