Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Xab2'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

3608421-3621316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3610880 bp (GRCm38)

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] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000208240]

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: 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

probably benign
Transcript: ENSMUST00000207970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207930

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

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: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het

Other mutations in Xab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Xab2	APN	8	3611723	missense	probably damaging	1.00
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
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

2013-12-09