Mutagenetix > Incidental Mutation

Incidental Mutation 'R4580:Xab2'

343593

Institutional Source

Beutler Lab

Gene Symbol

Xab2

Ensembl Gene

ENSMUSG00000019470

Gene Name

XPA binding protein 2

Synonyms

0610041O14Rik

MMRRC Submission

041599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3660089-3671311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3660162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 855 (D855G)

Ref Sequence

ENSEMBL: ENSMUSP00000019614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019614] [ENSMUST00000057028] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000208240] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970]

AlphaFold

Q9DCD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000019614
AA Change: D855G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: D855G

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

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: ENSMUST00000208240

Predicted Effect

probably benign
Transcript: ENSMUST00000207432

Predicted Effect

probably benign
Transcript: ENSMUST00000207533

Predicted Effect

probably benign
Transcript: ENSMUST00000207712

Predicted Effect

probably benign
Transcript: ENSMUST00000207152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207930

Predicted Effect

probably benign
Transcript: ENSMUST00000207970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208064

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,237 (GRCm39)	Y114C	probably damaging	Het
Abcc2	T	C	19: 43,799,558 (GRCm39)	S556P	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp6v1g1	A	G	4: 63,468,269 (GRCm39)	N91D	probably benign	Het
BC005537	G	T	13: 24,987,394 (GRCm39)	A11S	probably benign	Het
Bltp1	A	T	3: 37,084,174 (GRCm39)	T3864S	probably benign	Het
Bub1	A	C	2: 127,671,596 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cdh15	T	C	8: 123,591,897 (GRCm39)	L594P	probably damaging	Het
Cobll1	C	T	2: 64,981,417 (GRCm39)	V90I	probably benign	Het
Cog2	T	C	8: 125,271,875 (GRCm39)	V463A	probably benign	Het
Cpeb4	T	A	11: 31,877,757 (GRCm39)		probably null	Het
Creb5	G	A	6: 53,581,519 (GRCm39)	M172I	possibly damaging	Het
Cyp4a32	T	C	4: 115,460,126 (GRCm39)		silent	Het
Dnah8	T	A	17: 30,881,026 (GRCm39)	S588T	probably benign	Het
Ecpas	T	C	4: 58,840,751 (GRCm39)	Y669C	probably damaging	Het
Esd	T	C	14: 74,979,517 (GRCm39)	V120A	possibly damaging	Het
Fbxo5	T	C	10: 5,755,255 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,432 (GRCm39)	D430G	probably benign	Het
Golga4	C	A	9: 118,386,327 (GRCm39)	Q1150K	probably benign	Het
Grb14	T	C	2: 64,783,947 (GRCm39)	N60S	probably benign	Het
Grk4	A	G	5: 34,818,325 (GRCm39)	N2S	probably damaging	Het
Henmt1	T	A	3: 108,850,081 (GRCm39)	S21R	probably benign	Het
Ifngr2	A	G	16: 91,354,906 (GRCm39)	K113E	probably benign	Het
Ighv15-2	T	A	12: 114,528,590 (GRCm39)	T15S	probably benign	Het
Kif24	A	G	4: 41,395,287 (GRCm39)	S529P	probably damaging	Het
Large2	T	C	2: 92,200,957 (GRCm39)	N51S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,599 (GRCm39)	E773G	possibly damaging	Het
Lrfn3	A	T	7: 30,059,467 (GRCm39)	C253S	probably damaging	Het
Maea	T	C	5: 33,517,832 (GRCm39)	V130A	possibly damaging	Het
Marchf11	A	T	15: 26,311,189 (GRCm39)	I222F	probably damaging	Het
Mast4	A	T	13: 102,873,766 (GRCm39)	Y1699*	probably null	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mpzl3	T	A	9: 44,979,529 (GRCm39)	V160E	possibly damaging	Het
Myh15	T	C	16: 48,885,388 (GRCm39)	S88P	possibly damaging	Het
Myl2	A	T	5: 122,244,801 (GRCm39)	H157L	probably benign	Het
Myo9b	A	G	8: 71,767,779 (GRCm39)	N284S	probably damaging	Het
Nphp1	A	G	2: 127,610,089 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,609,323 (GRCm39)		probably null	Het
Nt5c3b	G	T	11: 100,323,885 (GRCm39)	F134L	probably damaging	Het
Or4c120	T	A	2: 89,001,544 (GRCm39)	Q4L	probably benign	Het
Otog	A	G	7: 45,937,225 (GRCm39)	R1645G	possibly damaging	Het
Pask	T	C	1: 93,249,830 (GRCm39)	I523M	probably benign	Het
Pcdhb7	T	A	18: 37,475,188 (GRCm39)	L108Q	probably damaging	Het
Pdp2	C	A	8: 105,321,576 (GRCm39)	T475K	probably damaging	Het
Pgbd1	G	C	13: 21,612,499 (GRCm39)	P113A	probably benign	Het
Plk5	C	T	10: 80,196,301 (GRCm39)	H291Y	possibly damaging	Het
Pmpca	G	T	2: 26,283,347 (GRCm39)	S382I	probably damaging	Het
Prl3b1	A	G	13: 27,433,450 (GRCm39)	T202A	possibly damaging	Het
Ptgs2	A	T	1: 149,979,845 (GRCm39)	T317S	possibly damaging	Het
Ptprc	C	T	1: 137,998,989 (GRCm39)	M1020I	probably benign	Het
Rhbdl3	T	C	11: 80,244,471 (GRCm39)	Y393H	probably damaging	Het
Sema3e	T	C	5: 14,283,717 (GRCm39)	L482P	probably damaging	Het
Setd2	C	T	9: 110,403,311 (GRCm39)	T1984I	probably benign	Het
Slc17a1	T	C	13: 24,071,960 (GRCm39)	Y393H	probably damaging	Het
Slc9a3	C	T	13: 74,307,005 (GRCm39)	R377*	probably null	Het
Slitrk3	A	G	3: 72,958,539 (GRCm39)	S78P	probably damaging	Het
Smim35	G	T	9: 45,155,426 (GRCm39)		probably null	Het
Specc1	T	A	11: 62,110,157 (GRCm39)	V1054E	probably damaging	Het
Tbc1d4	T	C	14: 101,696,219 (GRCm39)	T847A	probably benign	Het
Tcf7l2	G	A	19: 55,907,468 (GRCm39)	G343R	probably damaging	Het
Tex36	A	C	7: 133,189,111 (GRCm39)	Y154D	possibly damaging	Het
Topaz1	T	A	9: 122,576,580 (GRCm39)	M57K	probably null	Het
Trav6-4	T	C	14: 53,692,156 (GRCm39)	Y85H	probably damaging	Het
Trim30d	A	G	7: 104,121,765 (GRCm39)	Y327H	possibly damaging	Het
Ttn	A	G	2: 76,781,740 (GRCm39)	V1056A	probably benign	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Vmn1r59	A	T	7: 5,457,136 (GRCm39)	M208K	probably damaging	Het
Vmn2r25	T	C	6: 123,799,982 (GRCm39)	T787A	possibly damaging	Het
Vps39	A	T	2: 120,169,814 (GRCm39)	I246N	probably benign	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Ythdc2	T	A	18: 44,991,265 (GRCm39)	C758S	possibly damaging	Het
Zfp62	A	G	11: 49,107,099 (GRCm39)	I397V	possibly damaging	Het
Zscan4d	A	G	7: 10,896,435 (GRCm39)	S312P	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
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

Predicted Primers

PCR Primer
(F):5'- AGGTTGTCCACATGCCATATC -3'
(R):5'- TAGGAGTGATGCATCCAGGG -3'

Sequencing Primer
(F):5'- GTCCACATGCCATATCCCCTGAC -3'
(R):5'- AACCCTGAGGAGATCCAGCTG -3'

Posted On

2015-09-24