Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Xab2'

16977

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

Status

Validated

Chromosome

Chromosomal Location

3660089-3671311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3663880 bp (GRCm39)

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] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000208240] [ENSMUST00000171962]

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: 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: ENSMUST00000207152

Predicted Effect

probably benign
Transcript: ENSMUST00000207077

Predicted Effect

probably benign
Transcript: ENSMUST00000207432

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 89.0%
3x: 85.6%
10x: 75.4%
20x: 57.8%

Validation Efficiency

94% (112/119)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Arsa	T	A	15: 89,358,539 (GRCm39)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bptf	A	G	11: 106,952,962 (GRCm39)	V199A	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dbt	A	G	3: 116,337,478 (GRCm39)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Eif2b1	T	G	5: 124,711,858 (GRCm39)		probably null	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm19618	A	T	6: 87,691,227 (GRCm39)			Het
Gpatch1	G	A	7: 34,986,652 (GRCm39)	S768L	probably damaging	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,112,560 (GRCm39)	E222G	probably damaging	Het
Ighv1-4	A	G	12: 114,450,989 (GRCm39)	S40P	possibly damaging	Het
Kcnh4	T	C	11: 100,648,626 (GRCm39)	H26R	probably benign	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,820,677 (GRCm39)	D840G	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,732,326 (GRCm39)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	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
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
R7140:Xab2	UTSW	8	3,668,117 (GRCm39)	missense	possibly damaging	0.92
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

Posted On

2013-01-20