Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Xab2'

41079

Institutional Source

Beutler Lab

Gene Symbol

Xab2

Ensembl Gene

ENSMUSG00000019470

Gene Name

XPA binding protein 2

Synonyms

0610041O14Rik

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3608421-3621316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3613880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 346 (N346K)

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: N346K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: N346K

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

noncoding transcript
Transcript: ENSMUST00000208064

Predicted Effect

probably benign
Transcript: ENSMUST00000207970

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

100% (107/107)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,207,881 (GRCm38)		noncoding transcript	Het
5530400C23Rik	A	T	6: 133,292,324 (GRCm38)		probably benign	Het
Aco2	T	C	15: 81,903,465 (GRCm38)		probably benign	Het
Arap3	A	T	18: 37,996,707 (GRCm38)	S134T	probably benign	Het
Arsa	T	A	15: 89,474,336 (GRCm38)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,648,449 (GRCm38)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,284,562 (GRCm38)	I174N	probably damaging	Het
Bpifb9a	A	T	2: 154,266,841 (GRCm38)	N421Y	possibly damaging	Het
Btn2a2	T	A	13: 23,478,485 (GRCm38)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,356,691 (GRCm38)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,909,674 (GRCm38)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,911,218 (GRCm38)	L1421R	probably damaging	Het
Col24a1	G	A	3: 145,545,144 (GRCm38)	A1633T	probably damaging	Het
Col6a6	A	T	9: 105,702,213 (GRCm38)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,888,134 (GRCm38)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,373,056 (GRCm38)	N32K	probably benign	Het
Ctrb1	G	A	8: 111,686,637 (GRCm38)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,391,757 (GRCm38)	M208L	probably benign	Het
Dbt	A	G	3: 116,543,829 (GRCm38)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm38)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,319,165 (GRCm38)	N361I	probably benign	Het
Dnah10	A	T	5: 124,763,076 (GRCm38)	D1315V	probably benign	Het
Dnah11	A	G	12: 118,126,886 (GRCm38)	F1080S	probably benign	Het
Dnm3	A	G	1: 162,407,361 (GRCm38)	V70A	probably damaging	Het
Dpy19l1	A	C	9: 24,414,409 (GRCm38)	M700R	possibly damaging	Het
Dpy19l2	G	A	9: 24,646,383 (GRCm38)		probably benign	Het
Dst	C	A	1: 34,189,553 (GRCm38)	H2254N	possibly damaging	Het
Epm2aip1	A	G	9: 111,272,463 (GRCm38)	N168S	probably benign	Het
Fchsd2	A	G	7: 101,278,424 (GRCm38)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,897,572 (GRCm38)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,473,152 (GRCm38)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,702,470 (GRCm38)	I211F	probably damaging	Het
Gm15130	A	G	2: 111,138,939 (GRCm38)		probably benign	Het
Gm43302	T	A	5: 105,290,900 (GRCm38)	I41F	probably damaging	Het
Gm5698	C	T	1: 30,977,533 (GRCm38)	V146I	probably benign	Het
Gpatch1	G	A	7: 35,287,227 (GRCm38)	S768L	probably damaging	Het
Grb14	T	G	2: 64,938,492 (GRCm38)		probably null	Het
Hnrnpd	T	C	5: 99,964,701 (GRCm38)	E222G	probably damaging	Het
Il4ra	C	T	7: 125,576,231 (GRCm38)	P537L	possibly damaging	Het
Kalrn	T	C	16: 34,203,957 (GRCm38)	D610G	probably damaging	Het
Kcnh4	T	C	11: 100,757,800 (GRCm38)	H26R	probably benign	Het
Kctd2	T	G	11: 115,429,517 (GRCm38)		probably benign	Het
Khdrbs3	T	A	15: 68,995,037 (GRCm38)		probably benign	Het
Macf1	G	A	4: 123,432,150 (GRCm38)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,885,445 (GRCm38)		probably benign	Het
Mmab	T	C	5: 114,436,465 (GRCm38)		probably benign	Het
Mrc1	T	C	2: 14,261,200 (GRCm38)	S310P	probably benign	Het
Mrps21	T	C	3: 95,862,885 (GRCm38)	Y44C	probably null	Het
Myh10	T	A	11: 68,699,491 (GRCm38)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,601,703 (GRCm38)	D840G	probably damaging	Het
Neb	T	A	2: 52,306,530 (GRCm38)	D553V	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm38)		probably benign	Het
Npr2	G	T	4: 43,632,329 (GRCm38)	V49L	probably benign	Het
Ntsr2	T	C	12: 16,654,119 (GRCm38)	I207T	probably benign	Het
Nwd1	T	A	8: 72,711,856 (GRCm38)	S1552T	probably benign	Het
Oas3	T	A	5: 120,758,875 (GRCm38)	I894F	probably damaging	Het
Olfr169	T	A	16: 19,566,049 (GRCm38)	Y278F	probably damaging	Het
Olfr456	A	T	6: 42,486,935 (GRCm38)	M86K	probably benign	Het
Olfr736	T	A	14: 50,393,202 (GRCm38)	F149I	probably benign	Het
Olfr983	T	C	9: 40,092,687 (GRCm38)	N93S	possibly damaging	Het
Oprd1	A	G	4: 132,113,988 (GRCm38)	F220L	probably benign	Het
Pkd1l3	G	T	8: 109,620,471 (GRCm38)	G159C	unknown	Het
Plcb4	T	C	2: 135,961,769 (GRCm38)	S521P	probably benign	Het
Plcl1	A	T	1: 55,713,475 (GRCm38)	I993F	probably damaging	Het
Plcxd1	T	A	5: 110,101,502 (GRCm38)	V65E	probably damaging	Het
Plekha7	T	C	7: 116,157,508 (GRCm38)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,276,602 (GRCm38)	N993T	probably benign	Het
Rabepk	T	C	2: 34,795,306 (GRCm38)	D26G	possibly damaging	Het
Reck	A	G	4: 43,930,936 (GRCm38)	N646D	probably damaging	Het
Rfx2	A	T	17: 56,786,736 (GRCm38)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm38)	Q436*	probably null	Het
Ryr1	C	T	7: 29,005,567 (GRCm38)		probably benign	Het
Sema6b	A	G	17: 56,128,271 (GRCm38)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,998,533 (GRCm38)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,599,269 (GRCm38)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,574,011 (GRCm38)	V520F	probably benign	Het
Slitrk6	A	T	14: 110,749,932 (GRCm38)	L781H	probably damaging	Het
Spink14	T	C	18: 44,028,763 (GRCm38)	V2A	probably benign	Het
Sptan1	C	A	2: 30,003,667 (GRCm38)		probably benign	Het
Stab1	C	T	14: 31,157,070 (GRCm38)		probably benign	Het
Tbc1d17	C	T	7: 44,844,071 (GRCm38)		probably benign	Het
Tbcd	T	A	11: 121,503,764 (GRCm38)	L49*	probably null	Het
Tmco6	A	G	18: 36,742,107 (GRCm38)	T477A	probably benign	Het
Tmem208	C	T	8: 105,328,225 (GRCm38)	A53V	probably benign	Het
Tpp2	A	G	1: 43,981,748 (GRCm38)	T837A	possibly damaging	Het
Tulp4	A	T	17: 6,201,733 (GRCm38)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 104,148,938 (GRCm38)	W451R	probably damaging	Het
Usp53	G	T	3: 122,953,307 (GRCm38)	C363*	probably null	Het
Usp7	A	T	16: 8,691,418 (GRCm38)	H1017Q	probably benign	Het
Utp4	A	G	8: 106,922,898 (GRCm38)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,471 (GRCm38)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,279,239 (GRCm38)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 20,889,736 (GRCm38)	R306G	probably benign	Het
Vmn2r63	T	C	7: 42,927,090 (GRCm38)		probably benign	Het
Vmn2r77	T	C	7: 86,800,756 (GRCm38)	V70A	probably benign	Het
Vmn2r85	T	C	10: 130,425,901 (GRCm38)	D189G	probably damaging	Het
Vps8	A	G	16: 21,477,523 (GRCm38)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,961,103 (GRCm38)	Y104*	probably null	Het
Wnk4	A	T	11: 101,265,435 (GRCm38)	D43V	probably damaging	Het
Xirp2	T	C	2: 67,512,140 (GRCm38)	V1575A	possibly damaging	Het
Zdhhc12	C	T	2: 30,092,535 (GRCm38)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,225,200 (GRCm38)	S379P	probably benign	Het
Zfp458	G	A	13: 67,259,609 (GRCm38)	Q58*	probably null	Het
Zfp747	A	T	7: 127,374,600 (GRCm38)	S133T	probably benign	Het

Other mutations in Xab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Xab2	APN	8	3,611,723 (GRCm38)	missense	probably damaging	1.00
IGL01308:Xab2	APN	8	3,616,332 (GRCm38)	missense	probably benign	0.07
IGL01324:Xab2	APN	8	3,621,232 (GRCm38)	missense	possibly damaging	0.80
IGL01340:Xab2	APN	8	3,614,381 (GRCm38)	missense	probably damaging	1.00
IGL01613:Xab2	APN	8	3,610,880 (GRCm38)	missense	probably benign	0.01
IGL02622:Xab2	APN	8	3,611,699 (GRCm38)	missense	probably benign	0.01
IGL02809:Xab2	APN	8	3,610,175 (GRCm38)	missense	probably benign	0.00
R0066:Xab2	UTSW	8	3,613,880 (GRCm38)	missense	probably damaging	1.00
R0544:Xab2	UTSW	8	3,610,994 (GRCm38)	missense	probably damaging	1.00
R0607:Xab2	UTSW	8	3,613,605 (GRCm38)	missense	probably benign	0.05
R0735:Xab2	UTSW	8	3,613,649 (GRCm38)	missense	possibly damaging	0.50
R0943:Xab2	UTSW	8	3,613,667 (GRCm38)	missense	probably benign	0.00
R1507:Xab2	UTSW	8	3,616,031 (GRCm38)	missense	possibly damaging	0.93
R1664:Xab2	UTSW	8	3,619,068 (GRCm38)	splice site	probably null
R1954:Xab2	UTSW	8	3,616,094 (GRCm38)	missense	probably damaging	0.96
R1955:Xab2	UTSW	8	3,616,094 (GRCm38)	missense	probably damaging	0.96
R3767:Xab2	UTSW	8	3,619,053 (GRCm38)	missense	probably damaging	1.00
R4399:Xab2	UTSW	8	3,614,244 (GRCm38)	critical splice donor site	probably null
R4421:Xab2	UTSW	8	3,614,244 (GRCm38)	critical splice donor site	probably null
R4440:Xab2	UTSW	8	3,616,353 (GRCm38)	missense	probably benign	0.01
R4553:Xab2	UTSW	8	3,611,015 (GRCm38)	missense	probably benign	0.00
R4580:Xab2	UTSW	8	3,610,162 (GRCm38)	missense	probably damaging	1.00
R4608:Xab2	UTSW	8	3,618,105 (GRCm38)	missense	probably benign	0.23
R4707:Xab2	UTSW	8	3,618,117 (GRCm38)	missense	possibly damaging	0.92
R5522:Xab2	UTSW	8	3,611,718 (GRCm38)	missense	probably benign	0.06
R6063:Xab2	UTSW	8	3,613,051 (GRCm38)	missense	possibly damaging	0.93
R6273:Xab2	UTSW	8	3,611,822 (GRCm38)	missense	probably damaging	1.00
R6487:Xab2	UTSW	8	3,613,879 (GRCm38)	missense	possibly damaging	0.75
R7140:Xab2	UTSW	8	3,618,117 (GRCm38)	missense	possibly damaging	0.92
R7648:Xab2	UTSW	8	3,610,638 (GRCm38)	missense	probably benign	0.00
R7767:Xab2	UTSW	8	3,619,018 (GRCm38)	missense	probably benign	0.08
R7992:Xab2	UTSW	8	3,618,622 (GRCm38)	missense	possibly damaging	0.81
R8116:Xab2	UTSW	8	3,613,830 (GRCm38)	missense	probably damaging	1.00
R8193:Xab2	UTSW	8	3,613,389 (GRCm38)	missense	probably benign
R8717:Xab2	UTSW	8	3,613,845 (GRCm38)	missense	probably benign	0.14
R8759:Xab2	UTSW	8	3,611,672 (GRCm38)	missense	probably benign
R8840:Xab2	UTSW	8	3,613,254 (GRCm38)	missense	probably benign	0.18
R8952:Xab2	UTSW	8	3,613,875 (GRCm38)	missense	probably damaging	1.00
R9044:Xab2	UTSW	8	3,618,641 (GRCm38)	missense	probably benign	0.21
R9287:Xab2	UTSW	8	3,613,000 (GRCm38)	missense	possibly damaging	0.94
R9596:Xab2	UTSW	8	3,613,018 (GRCm38)	missense	probably damaging	0.96
R9799:Xab2	UTSW	8	3,618,182 (GRCm38)	missense	probably benign	0.28
Z1176:Xab2	UTSW	8	3,618,969 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCTACTGTTTGCACAGCCTCTG -3'
(R):5'- GCCAAGAAATCCTGGCGTAGTCTC -3'

Sequencing Primer
(F):5'- CAGCCTCTGTGTATGTGTTGATAATC -3'
(R):5'- CAATTGAGTACAGGCATGGC -3'

Posted On

2013-05-23