Mutagenetix > Incidental Mutation

Incidental Mutation 'R6273:Xab2'

507465

Institutional Source

Beutler Lab

Gene Symbol

Xab2

Ensembl Gene

ENSMUSG00000019470

Gene Name

XPA binding protein 2

Synonyms

0610041O14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3608421-3621316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3611822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 544 (G544S)

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: G544S

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

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: G544S

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

Meta Mutation Damage Score

0.3838

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (78/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,218	I99N	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ankrd31	A	G	13: 96,851,673	I1065V	possibly damaging	Het
Aox2	A	G	1: 58,339,672	T1027A	probably benign	Het
Atm	G	A	9: 53,487,922	P1593L	probably benign	Het
Atp13a5	T	G	16: 29,348,737	I132L	probably benign	Het
BC035044	A	G	6: 128,890,889		probably benign	Het
C530008M17Rik	A	T	5: 76,857,721	D643V	unknown	Het
Cadm3	CT	C	1: 173,349,124		probably benign	Homo
Car3	C	T	3: 14,871,617	P247S	probably benign	Het
Ccdc7a	T	C	8: 128,787,338	Y160C	probably damaging	Het
Cd1d1	A	G	3: 86,998,257	V143A	probably benign	Het
Cog6	A	T	3: 52,996,052	F142I	probably damaging	Het
Crhr1	T	G	11: 104,163,856	N98K	possibly damaging	Het
Csf1	A	G	3: 107,749,163	V72A	probably damaging	Het
Cwc15	T	A	9: 14,510,241	I201K	probably benign	Het
Dgka	T	C	10: 128,723,646	K482R	probably benign	Het
Dnah7b	T	C	1: 46,242,316	S2846P	possibly damaging	Het
Dst	T	A	1: 34,275,266	I4199N	probably damaging	Het
Dusp7	A	G	9: 106,373,896	T407A	possibly damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fem1a	T	C	17: 56,257,083	Y59H	possibly damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Filip1	A	T	9: 79,815,886	D1150E	probably benign	Het
Gabra1	A	G	11: 42,140,311	V264A	probably damaging	Het
Gm4131	T	C	14: 62,464,850	E223G	probably damaging	Het
Gon4l	T	C	3: 88,855,849	V333A	probably damaging	Het
Gsk3b	A	G	16: 38,208,046	T289A	probably benign	Het
Hmcn2	T	C	2: 31,411,834	S2912P	probably damaging	Het
Htr7	A	T	19: 36,041,569		probably benign	Het
Ibsp	A	G	5: 104,310,301	T235A	probably benign	Het
Ints13	A	T	6: 146,565,681	D116E	probably damaging	Het
Kctd19	T	C	8: 105,385,485	N753S	probably benign	Het
Mdn1	A	G	4: 32,715,979	N2054D	probably benign	Het
Mink1	A	T	11: 70,611,435	K880*	probably null	Het
Mrvi1	G	T	7: 110,871,583	H848N	probably benign	Het
Myo15b	T	A	11: 115,862,799	L824Q	possibly damaging	Het
Napepld	T	C	5: 21,665,322	E366G	probably benign	Het
Obscn	T	A	11: 59,076,993	T2662S	possibly damaging	Het
Olfr130	T	G	17: 38,067,795	L208R	probably damaging	Het
Olfr1302	T	C	2: 111,781,222	F301L	probably benign	Het
Olfr133	T	A	17: 38,148,942	M118K	possibly damaging	Het
Olfr1448	A	G	19: 12,919,400	V303A	probably benign	Het
Olfr213	A	G	6: 116,541,316	T288A	possibly damaging	Het
Olfr656	A	G	7: 104,617,895	D72G	probably damaging	Het
Pah	T	C	10: 87,576,215		probably null	Het
Panx3	T	G	9: 37,667,429	I85L	probably benign	Het
Pate4	T	C	9: 35,607,790	N94D	probably benign	Het
Pde4d	A	G	13: 109,950,221	M610V	possibly damaging	Het
Pik3c2b	T	C	1: 133,066,711	S138P	probably benign	Het
Pkn1	T	C	8: 83,672,270	N696S	probably damaging	Het
Plppr2	A	G	9: 21,944,505	E258G	probably damaging	Het
Plxnd1	A	T	6: 115,978,492	M538K	probably damaging	Het
Prepl	G	T	17: 85,083,268	N87K	probably benign	Het
Prkag2	C	A	5: 24,947,536	R190L	probably damaging	Het
Rara	A	G	11: 98,970,222	T179A	probably benign	Het
Rfx7	A	G	9: 72,616,997	K490E	possibly damaging	Het
Rgsl1	C	T	1: 153,827,465	V147M	possibly damaging	Het
Rph3a	A	G	5: 120,945,422	I595T	possibly damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Homo
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc8a2	T	C	7: 16,145,334	F582L	possibly damaging	Het
Sprr2e	A	G	3: 92,352,864	M1V	probably null	Het
Steap1	T	A	5: 5,740,827	R40S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Thsd7a	A	T	6: 12,408,836	V729E	probably damaging	Het
Tmem2	T	A	19: 21,802,005	V393E	probably damaging	Het
Tmprss13	A	G	9: 45,345,332	Y525C	probably damaging	Het
Tnik	A	T	3: 28,577,500	H383L	possibly damaging	Het
Vars	T	C	17: 35,013,743	L881S	probably damaging	Het
Vmn1r201	A	C	13: 22,475,215	S200R	probably damaging	Het
Vmn2r14	A	T	5: 109,221,267	W147R	probably benign	Het
Vmn2r-ps130	A	T	17: 23,076,785	H643L	probably benign	Het
Vps53	T	C	11: 76,102,018	E367G	probably benign	Het
Ythdf3	T	A	3: 16,204,856	V400E	possibly damaging	Het
Zfand5	C	T	19: 21,279,696	P147S	probably benign	Het
Zfp768	A	T	7: 127,345,147		probably null	Het
Zswim8	A	G	14: 20,713,453	M423V	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	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
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

Predicted Primers

PCR Primer
(F):5'- ACAAGGGTCCAGTTAGCAGC -3'
(R):5'- TTGTCCATGAGGTATCAGACTG -3'

Sequencing Primer
(F):5'- TTAGCAGCGCGCCACTC -3'
(R):5'- GTGTTTAGAAAGTCCCTATTGCACC -3'

Posted On

2018-03-15