Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3660089-3671311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3668117 bp (GRCm39)

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] [ENSMUST00000208950] [ENSMUST00000207428] [ENSMUST00000207389]

AlphaFold

Q9DCD2

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: ENSMUST00000208950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208185

Predicted Effect

probably benign
Transcript: ENSMUST00000207428

Predicted Effect

probably benign
Transcript: ENSMUST00000207389

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: 27,610,929 (GRCm39)		probably null	Het
Ap2a2	G	A	7: 141,178,777 (GRCm39)	A148T	probably benign	Het
Arhgef3	A	T	14: 27,123,664 (GRCm39)	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,903,216 (GRCm39)	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,629,483 (GRCm39)	K203*	probably null	Het
C1qtnf6	T	A	15: 78,409,283 (GRCm39)	Y188F	probably benign	Het
Capn10	T	C	1: 92,872,993 (GRCm39)	V573A	possibly damaging	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,579,695 (GRCm39)		probably null	Het
Ccng2	C	A	5: 93,416,614 (GRCm39)	P45Q	probably benign	Het
Cd86	T	C	16: 36,441,263 (GRCm39)	H68R	probably benign	Het
Cmtm4	A	G	8: 105,081,827 (GRCm39)	Y187H	probably damaging	Het
Cst11	T	C	2: 148,610,649 (GRCm39)	N134S	probably benign	Het
Cyp3a25	A	T	5: 145,939,855 (GRCm39)	F51I	probably benign	Het
Dnhd1	A	G	7: 105,342,973 (GRCm39)	E1439G	probably benign	Het
Dock4	T	C	12: 40,686,158 (GRCm39)	V131A	probably benign	Het
Dpysl2	A	G	14: 67,099,982 (GRCm39)	S85P	probably benign	Het
Dync1i2	A	G	2: 71,078,283 (GRCm39)	H324R	probably benign	Het
Elf1	A	G	14: 79,804,710 (GRCm39)	D162G	probably benign	Het
Eri3	G	A	4: 117,506,604 (GRCm39)		probably null	Het
Fbxl21	T	C	13: 56,680,145 (GRCm39)	S203P	probably damaging	Het
Foxi1	G	A	11: 34,155,758 (GRCm39)	R291C	probably damaging	Het
Gprin3	C	T	6: 59,332,128 (GRCm39)	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,491,118 (GRCm39)	C212R	probably benign	Het
Hivep3	T	C	4: 119,954,318 (GRCm39)	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,376,514 (GRCm39)	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,848,441 (GRCm39)	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,363,969 (GRCm39)	T360A	probably damaging	Het
Izumo1	A	G	7: 45,275,536 (GRCm39)	T282A	probably benign	Het
Kidins220	T	A	12: 25,086,623 (GRCm39)	I1019N	probably damaging	Het
Med13l	T	C	5: 118,880,037 (GRCm39)	V1043A	probably benign	Het
Mon2	C	T	10: 122,871,358 (GRCm39)	V420I	probably benign	Het
Naip6	T	A	13: 100,436,708 (GRCm39)	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,414,793 (GRCm39)	I285T	probably benign	Het
Notch3	A	G	17: 32,375,351 (GRCm39)	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,396,192 (GRCm39)		probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or2w4	C	T	13: 21,795,297 (GRCm39)	V281M	possibly damaging	Het
Or4a67	G	A	2: 88,598,308 (GRCm39)	A117V	probably damaging	Het
Or5g9	T	A	2: 85,551,818 (GRCm39)	L23Q	probably damaging	Het
Or6c74	T	G	10: 129,870,083 (GRCm39)	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,559,268 (GRCm39)	A176V	probably null	Het
Pabpc6	C	A	17: 9,887,357 (GRCm39)	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,277,239 (GRCm39)	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,872,184 (GRCm39)	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigu	A	C	2: 155,143,160 (GRCm39)	L248R	possibly damaging	Het
Pinx1	C	A	14: 64,097,834 (GRCm39)		probably null	Het
Pon3	T	C	6: 5,221,664 (GRCm39)	N322S	possibly damaging	Het
Pramel23	T	G	4: 143,425,002 (GRCm39)	H147P	probably benign	Het
Rnft1	A	G	11: 86,382,586 (GRCm39)	I270V	probably benign	Het
Scgb2b11	A	G	7: 31,910,006 (GRCm39)	F27L	probably damaging	Het
Slc5a4b	C	T	10: 75,910,943 (GRCm39)	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,048,745 (GRCm39)	H345L	probably benign	Het
Sox1	C	T	8: 12,447,405 (GRCm39)	P349S	possibly damaging	Het
Spata31	A	G	13: 65,068,913 (GRCm39)	N354D	probably benign	Het
Speg	T	C	1: 75,383,414 (GRCm39)		probably null	Het
Stpg1	T	C	4: 135,261,033 (GRCm39)	I281T	probably benign	Het
Sult3a1	T	C	10: 33,753,283 (GRCm39)	L193P	probably damaging	Het
Tenm3	A	T	8: 48,745,271 (GRCm39)	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,883,523 (GRCm39)	S7P	probably benign	Het
Tlr1	T	C	5: 65,083,021 (GRCm39)	I519V	probably benign	Het
Tmem238	A	G	7: 4,792,072 (GRCm39)	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,345,780 (GRCm39)		probably null	Het
Togaram2	A	T	17: 72,021,761 (GRCm39)	H742L	probably benign	Het
Trpc7	A	T	13: 56,937,487 (GRCm39)	Y656*	probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Zfp759	A	T	13: 67,288,177 (GRCm39)	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,678,481 (GRCm39)	A169S	probably benign	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
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
R9799:Xab2	UTSW	8	3,668,182 (GRCm39)	missense	probably benign	0.28
Z1176:Xab2	UTSW	8	3,668,969 (GRCm39)	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