Mutagenetix > Incidental Mutations

Incidental Mutation 'R4421:Xab2'

500618

Institutional Source

Beutler Lab

Gene Symbol

Xab2

Ensembl Gene

ENSMUSG00000019470

Gene Name

XPA binding protein 2

Synonyms

0610041O14Rik

MMRRC Submission

041142-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3608421-3621316 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 3614244 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019614] [ENSMUST00000159235]

Predicted Effect

probably null
Transcript: ENSMUST00000019614

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470

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

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

Meta Mutation Damage Score

0.9587

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	C	9: 106,435,713		probably null	Het
Adgrv1	T	C	13: 81,566,302	E234G	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
C1s2	T	C	6: 124,625,215	D673G	probably benign	Het
Capza3	G	A	6: 140,042,042	M122I	probably benign	Het
Cfap44	T	C	16: 44,422,437	S735P	probably damaging	Het
Cntn3	A	G	6: 102,464,547	F13L	probably damaging	Het
Col6a5	A	T	9: 105,928,473	M1078K	unknown	Het
Colgalt2	A	T	1: 152,485,012	I267F	probably damaging	Het
Cpped1	T	C	16: 11,805,357	*299W	probably null	Het
Cyp3a59	A	G	5: 146,104,903		probably null	Het
Ddx42	T	A	11: 106,231,138	Y160N	probably damaging	Het
Dhx35	A	T	2: 158,806,401	R60W	probably damaging	Het
Gbp10	T	C	5: 105,224,651		probably null	Het
Gtf2i	T	C	5: 134,255,037	T467A	possibly damaging	Het
Hip1r	G	C	5: 123,997,862	G542A	possibly damaging	Het
Hspg2	G	A	4: 137,548,122	A2748T	probably benign	Het
Kcnq3	T	C	15: 65,995,511	Y761C	probably benign	Het
Krt13	T	G	11: 100,118,935	T340P	possibly damaging	Het
Map2k5	A	G	9: 63,164,130	C435R	probably damaging	Het
Ms4a4c	T	A	19: 11,416,375	I53K	probably damaging	Het
Myh15	T	A	16: 49,109,344	F544L	probably damaging	Het
Neurod2	G	T	11: 98,328,200	S46*	probably null	Het
Nsd3	T	A	8: 25,641,272	S218T	probably damaging	Het
Olfr1184	A	T	2: 88,487,241	N170Y	probably damaging	Het
Olfr706	G	T	7: 106,886,453	D121E	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Prrg3	A	T	X: 71,967,309	S141C	probably damaging	Het
Ranbp17	A	T	11: 33,475,056	D433E	probably benign	Het
Rbm28	T	C	6: 29,154,837	D278G	probably damaging	Het
Sbpl	A	G	17: 23,954,886	L8P	unknown	Het
Spopl	C	T	2: 23,517,945	V241M	probably damaging	Het
Tdrd3	A	G	14: 87,486,283	E311G	probably damaging	Het
Tma16	C	T	8: 66,484,171		probably null	Het
Ubr4	A	G	4: 139,461,856	N3917D	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vmn2r72	T	C	7: 85,738,500	N619D	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
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
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
Z1176:Xab2	UTSW	8	3618969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAAGAGCCACGCTGACCTC -3'
(R):5'- CTTCGCTCAGCATTGGTCAG -3'

Sequencing Primer
(F):5'- GCTGACCTCCACGAACCTAG -3'
(R):5'- CTCAGCATTGGTCAGCTGGG -3'

Posted On

2017-12-01