Mutagenetix > Incidental Mutations

Incidental Mutation 'R7140:Xab2'

553401

Institutional Source

Beutler Lab

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 #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3608421-3621316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3618117 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 154 (R154C)

Ref Sequence

ENSEMBL: ENSMUSP00000019614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019614] [ENSMUST00000156380] [ENSMUST00000159235] [ENSMUST00000207389] [ENSMUST00000207428] [ENSMUST00000208950]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019614
AA Change: R154C

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: R154C

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: 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: R151C

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

noncoding transcript
Transcript: ENSMUST00000207257

Predicted Effect

probably benign
Transcript: ENSMUST00000207389

Predicted Effect

probably benign
Transcript: ENSMUST00000207428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208185

Predicted Effect

probably benign
Transcript: ENSMUST00000208950

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,120,901		probably null	Het
Ap2a2	G	A	7: 141,598,864	A148T	probably benign	Het
Arhgef3	A	T	14: 27,401,707	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,925,852	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,322,455	K203*	probably null	Het
C1qtnf6	T	A	15: 78,525,083	Y188F	probably benign	Het
Capn10	T	C	1: 92,945,271	V573A	possibly damaging	Het
Cbx4	T	C	11: 119,081,928	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,688,869		probably null	Het
Ccng2	C	A	5: 93,268,755	P45Q	probably benign	Het
Cd86	T	C	16: 36,620,901	H68R	probably benign	Het
Cmtm4	A	G	8: 104,355,195	Y187H	probably damaging	Het
Cst11	T	C	2: 148,768,729	N134S	probably benign	Het
Cyp3a25	A	T	5: 146,003,045	F51I	probably benign	Het
Dnhd1	A	G	7: 105,693,766	E1439G	probably benign	Het
Dock4	T	C	12: 40,636,159	V131A	probably benign	Het
Dpysl2	A	G	14: 66,862,533	S85P	probably benign	Het
Dync1i2	A	G	2: 71,247,939	H324R	probably benign	Het
Elf1	A	G	14: 79,567,270	D162G	probably benign	Het
Eri3	G	A	4: 117,649,407		probably null	Het
Fbxl21	T	C	13: 56,532,332	S203P	probably damaging	Het
Foxi1	G	A	11: 34,205,758	R291C	probably damaging	Het
Gm13089	T	G	4: 143,698,432	H147P	probably benign	Het
Gprin3	C	T	6: 59,355,143	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,316,533	C212R	probably benign	Het
Hivep3	T	C	4: 120,097,121	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,139,102	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,937,141	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,144,995	T360A	probably damaging	Het
Izumo1	A	G	7: 45,626,112	T282A	probably benign	Het
Kidins220	T	A	12: 25,036,624	I1019N	probably damaging	Het
Med13l	T	C	5: 118,741,972	V1043A	probably benign	Het
Mon2	C	T	10: 123,035,453	V420I	probably benign	Het
Naip6	T	A	13: 100,300,200	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,487,055	I285T	probably benign	Het
Notch3	A	G	17: 32,156,377	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,088,764		probably benign	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr1009	T	A	2: 85,721,474	L23Q	probably damaging	Het
Olfr1200	G	A	2: 88,767,964	A117V	probably damaging	Het
Olfr1362	C	T	13: 21,611,127	V281M	possibly damaging	Het
Olfr821	T	G	10: 130,034,214	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,683,272	A176V	probably null	Het
Pabpc6	C	A	17: 9,668,428	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,144,186	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,739,131	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pigu	A	C	2: 155,301,240	L248R	possibly damaging	Het
Pinx1	C	A	14: 63,860,385		probably null	Het
Pon3	T	C	6: 5,221,664	N322S	possibly damaging	Het
Rnft1	A	G	11: 86,491,760	I270V	probably benign	Het
Scgb2b11	A	G	7: 32,210,581	F27L	probably damaging	Het
Slc5a4b	C	T	10: 76,075,109	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,103,019	H345L	probably benign	Het
Sox1	C	T	8: 12,397,405	P349S	possibly damaging	Het
Spata31	A	G	13: 64,921,099	N354D	probably benign	Het
Speg	T	C	1: 75,406,770		probably null	Het
Stpg1	T	C	4: 135,533,722	I281T	probably benign	Het
Sult3a1	T	C	10: 33,877,287	L193P	probably damaging	Het
Tenm3	A	T	8: 48,292,236	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,730,047	S7P	probably benign	Het
Tlr1	T	C	5: 64,925,678	I519V	probably benign	Het
Tmem238	A	G	7: 4,789,073	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,434,484		probably null	Het
Togaram2	A	T	17: 71,714,766	H742L	probably benign	Het
Trpc7	A	T	13: 56,789,674	Y656*	probably null	Het
Wdr35	T	A	12: 9,022,785	Y920N	probably damaging	Het
Zfp759	A	T	13: 67,140,113	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,628,481	A169S	probably benign	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	unclassified	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
R7648:Xab2	UTSW	8	3610638	missense	probably benign	0.00
R7767:Xab2	UTSW	8	3619018	missense	probably benign	0.08
Z1176:Xab2	UTSW	8	3618969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACCTATTCATCGGAGCCTC -3'
(R):5'- AGGTGATGACCCCTATTGCTTC -3'

Sequencing Primer
(F):5'- ATCGGAGCCTCTTCCTGCAG -3'
(R):5'- CCCTGTGCCCTAGATATGAAGTG -3'

Posted On

2019-05-15