Mutagenetix > Incidental Mutation

Incidental Mutation 'R1955:Xaf1'

217702

Institutional Source

Beutler Lab

Gene Symbol

Xaf1

Ensembl Gene

ENSMUSG00000040483

Gene Name

XIAP associated factor 1

Synonyms

MMRRC Submission

039969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72192455-72204559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72197432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 136 (D136V)

Ref Sequence

ENSEMBL: ENSMUSP00000123011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094041] [ENSMUST00000140842] [ENSMUST00000146233] [ENSMUST00000151440]

AlphaFold

Q5NBU8

Predicted Effect

probably benign
Transcript: ENSMUST00000094041
AA Change: I71F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000140842

SMART Domains

Protein: ENSMUSP00000121472
Gene: ENSMUSG00000040483

Domain	Start	End	E-Value	Type
PDB:2LXW\|A	133	175	7e-13	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142921

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146233
AA Change: D136V

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483
AA Change: D136V

Domain	Start	End	E-Value	Type
PDB:2LXW\|A	228	270	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000151440

SMART Domains

Protein: ENSMUSP00000121483
Gene: ENSMUSG00000040483

Domain	Start	End	E-Value	Type
PDB:2LXW\|A	133	165	7e-9	PDB
low complexity region	194	205	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	A	1: 53,202,400 (GRCm39)	K128N	probably benign	Het
Acadm	A	C	3: 153,635,188 (GRCm39)	F309V	probably damaging	Het
Adam6b	C	A	12: 113,455,436 (GRCm39)	A751E	probably benign	Het
Adcy9	A	G	16: 4,236,523 (GRCm39)	I296T	possibly damaging	Het
Arhgap45	A	G	10: 79,862,326 (GRCm39)	E471G	probably benign	Het
Atcay	T	C	10: 81,050,627 (GRCm39)	D96G	possibly damaging	Het
B3galt4	T	A	17: 34,169,606 (GRCm39)	R211*	probably null	Het
Bpi	T	C	2: 158,116,635 (GRCm39)	I344T	probably damaging	Het
Btnl4	T	C	17: 34,691,904 (GRCm39)	K233E	possibly damaging	Het
Cars2	A	T	8: 11,600,286 (GRCm39)	Y68N	probably damaging	Het
Cd207	T	A	6: 83,648,757 (GRCm39)	R302W	probably benign	Het
Cdc5l	T	C	17: 45,737,442 (GRCm39)		probably null	Het
Chaf1a	C	T	17: 56,354,540 (GRCm39)	T270I	unknown	Het
Col4a1	C	T	8: 11,258,228 (GRCm39)		probably null	Het
Col7a1	G	T	9: 108,784,732 (GRCm39)	V187L	unknown	Het
Cry1	G	A	10: 84,980,042 (GRCm39)	T422I	probably benign	Het
Csgalnact1	C	T	8: 68,825,319 (GRCm39)	V392I	probably benign	Het
Cyp2c38	A	G	19: 39,393,131 (GRCm39)	L312P	probably damaging	Het
Ddx20	G	A	3: 105,586,878 (GRCm39)	T489M	possibly damaging	Het
Decr1	A	T	4: 15,924,256 (GRCm39)	N221K	probably benign	Het
Dennd4a	A	T	9: 64,759,749 (GRCm39)	T285S	probably benign	Het
Dgka	A	G	10: 128,566,058 (GRCm39)		probably null	Het
Dmd	A	T	X: 82,922,163 (GRCm39)	M1478L	probably benign	Het
Dvl1	G	A	4: 155,942,486 (GRCm39)	R584Q	possibly damaging	Het
Dync1li1	A	T	9: 114,550,814 (GRCm39)	S450C	probably damaging	Het
Ehbp1l1	A	G	19: 5,760,697 (GRCm39)	V1558A	possibly damaging	Het
Esr1	T	A	10: 4,807,125 (GRCm39)	M347K	probably damaging	Het
F2	T	A	2: 91,463,440 (GRCm39)	H148L	probably benign	Het
Fezf2	T	C	14: 12,342,644 (GRCm38)	N407S	probably benign	Het
Fscn3	T	A	6: 28,430,235 (GRCm39)	M135K	possibly damaging	Het
Ganab	T	G	19: 8,888,980 (GRCm39)	Y560*	probably null	Het
Garem2	T	C	5: 30,313,268 (GRCm39)	V44A	probably benign	Het
Gja4	A	G	4: 127,206,242 (GRCm39)	W174R	probably damaging	Het
Gja5	A	T	3: 96,958,957 (GRCm39)	H338L	probably benign	Het
Gm43517	A	G	12: 49,436,672 (GRCm39)		probably benign	Het
Iqch	A	T	9: 63,455,298 (GRCm39)	D166E	probably benign	Het
Kifc5b	T	A	17: 27,145,271 (GRCm39)		probably null	Het
Kmt2b	A	T	7: 30,274,776 (GRCm39)	M1976K	possibly damaging	Het
Leng1	A	T	7: 3,668,415 (GRCm39)	V11D	probably damaging	Het
Lrit3	A	G	3: 129,594,130 (GRCm39)	V149A	probably benign	Het
Lrpap1	A	G	5: 35,259,756 (GRCm39)	L114P	probably damaging	Het
Marveld3	T	A	8: 110,686,380 (GRCm39)	D162V	probably benign	Het
Mon2	A	T	10: 122,874,388 (GRCm39)	I320N	probably damaging	Het
Morc2b	T	C	17: 33,356,464 (GRCm39)	Y436C	probably damaging	Het
Myo7a	A	T	7: 97,704,128 (GRCm39)	V1928D	probably damaging	Het
Ncoa6	A	G	2: 155,248,741 (GRCm39)	V1521A	possibly damaging	Het
Nexmif	A	G	X: 103,127,559 (GRCm39)	S1453P	possibly damaging	Het
Nudt16l1	A	G	16: 4,758,189 (GRCm39)	M182V	probably benign	Het
Obp2b	A	T	2: 25,628,563 (GRCm39)	I106L	probably benign	Het
Or10ag59	T	A	2: 87,406,349 (GRCm39)	L307Q	probably damaging	Het
Or4a2	T	A	2: 89,248,755 (GRCm39)	M1L	probably damaging	Het
Or5h18	T	A	16: 58,847,774 (GRCm39)	R165S	probably damaging	Het
Or8b43	T	C	9: 38,360,984 (GRCm39)	I272T	probably benign	Het
Parl	T	A	16: 20,121,077 (GRCm39)	M1L	possibly damaging	Het
Pde7a	G	A	3: 19,281,963 (GRCm39)	A429V	probably damaging	Het
Pkd1l2	T	A	8: 117,770,100 (GRCm39)	M1119L	probably benign	Het
Plch1	C	T	3: 63,662,688 (GRCm39)	V272I	probably damaging	Het
Plekha4	G	A	7: 45,203,330 (GRCm39)	G740D	probably damaging	Het
Pnliprp1	A	G	19: 58,723,404 (GRCm39)	D265G	possibly damaging	Het
Pola1	A	C	X: 92,640,867 (GRCm39)	V384G	probably damaging	Het
Pon3	T	A	6: 5,230,774 (GRCm39)	D251V	probably benign	Het
Pot1b	A	G	17: 55,981,067 (GRCm39)	C316R	possibly damaging	Het
Prkaca	T	A	8: 84,714,946 (GRCm39)	V116E	probably damaging	Het
Prpf6	T	G	2: 181,273,870 (GRCm39)	M338R	probably benign	Het
Rasgef1c	A	G	11: 49,866,542 (GRCm39)	H382R	possibly damaging	Het
Rlig1	A	G	10: 100,413,166 (GRCm39)	V91A	probably damaging	Het
Rps25	C	T	9: 44,321,305 (GRCm39)	T113I	probably benign	Het
Serpinb1b	G	T	13: 33,269,422 (GRCm39)	A52S	probably benign	Het
Sh3yl1	A	G	12: 30,972,332 (GRCm39)	K34E	possibly damaging	Het
Siah2	C	T	3: 58,583,518 (GRCm39)	R256Q	probably damaging	Het
Slc24a2	A	G	4: 86,991,481 (GRCm39)	L404P	probably damaging	Het
Slc28a2	G	A	2: 122,278,347 (GRCm39)	C122Y	probably benign	Het
Slc4a8	T	C	15: 100,705,257 (GRCm39)	I821T	probably damaging	Het
Slc5a3	T	C	16: 91,874,762 (GRCm39)	V273A	possibly damaging	Het
Spag7	T	C	11: 70,555,844 (GRCm39)	Q61R	probably benign	Het
Syt7	A	T	19: 10,395,402 (GRCm39)	I71F	probably damaging	Het
Tars2	T	C	3: 95,654,766 (GRCm39)	N413S	probably damaging	Het
Tex14	T	A	11: 87,400,447 (GRCm39)	L413Q	probably damaging	Het
Tjp3	T	C	10: 81,113,833 (GRCm39)	E475G	probably damaging	Het
Tmem131l	A	G	3: 83,868,851 (GRCm39)	S175P	probably damaging	Het
Tmem144	C	T	3: 79,734,164 (GRCm39)	V180M	probably benign	Het
Tmem200c	A	T	17: 69,147,956 (GRCm39)	I180F	probably damaging	Het
Tmem232	G	T	17: 65,791,482 (GRCm39)	H129N	probably benign	Het
Tmprss11g	T	A	5: 86,646,391 (GRCm39)	I59F	probably damaging	Het
Tmprss2	T	A	16: 97,368,377 (GRCm39)		probably null	Het
Tor1aip2	T	A	1: 155,927,588 (GRCm39)		probably benign	Het
Trim61	T	C	8: 65,466,044 (GRCm39)	I406V	possibly damaging	Het
Trpv5	T	C	6: 41,634,871 (GRCm39)	D486G	probably damaging	Het
Try5	T	C	6: 41,288,703 (GRCm39)	E64G	probably benign	Het
Txlnb	A	G	10: 17,675,168 (GRCm39)	E107G	probably damaging	Het
Ube2frt	A	G	12: 36,140,595 (GRCm39)		probably benign	Het
Uckl1	T	C	2: 181,212,320 (GRCm39)	Q332R	probably benign	Het
Ugt2b1	T	C	5: 87,065,572 (GRCm39)	Y489C	probably damaging	Het
Ugt2b5	T	A	5: 87,275,631 (GRCm39)	M407L	probably benign	Het
Vmn1r191	A	T	13: 22,362,985 (GRCm39)	S256R	possibly damaging	Het
Vps13b	T	G	15: 35,925,554 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,882,713 (GRCm39)	F960S	probably damaging	Het
Xab2	T	A	8: 3,666,094 (GRCm39)	D227V	probably damaging	Het
Zan	A	G	5: 137,387,545 (GRCm39)	S4889P	unknown	Het
Zfp78	A	G	7: 6,381,558 (GRCm39)	T203A	probably benign	Het
Zfp821	T	C	8: 110,447,874 (GRCm39)	S72P	probably damaging	Het

Other mutations in Xaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02457:Xaf1	APN	11	72,194,257 (GRCm39)	missense	possibly damaging	0.80
R0230:Xaf1	UTSW	11	72,197,381 (GRCm39)	intron	probably benign
R2206:Xaf1	UTSW	11	72,194,228 (GRCm39)	missense	possibly damaging	0.85
R2207:Xaf1	UTSW	11	72,194,228 (GRCm39)	missense	possibly damaging	0.85
R4864:Xaf1	UTSW	11	72,197,682 (GRCm39)	intron	probably benign
R5973:Xaf1	UTSW	11	72,194,256 (GRCm39)	missense	probably damaging	0.98
R6463:Xaf1	UTSW	11	72,199,464 (GRCm39)	missense	probably benign	0.01
R6786:Xaf1	UTSW	11	72,197,461 (GRCm39)	missense	probably benign	0.00
R7199:Xaf1	UTSW	11	72,194,201 (GRCm39)	nonsense	probably null
R9055:Xaf1	UTSW	11	72,194,266 (GRCm39)	missense	probably damaging	1.00
R9085:Xaf1	UTSW	11	72,197,419 (GRCm39)	missense	probably benign	0.09
R9300:Xaf1	UTSW	11	72,192,517 (GRCm39)	missense	probably benign	0.22
R9331:Xaf1	UTSW	11	72,197,470 (GRCm39)	missense	probably damaging	0.98
Z1186:Xaf1	UTSW	11	72,199,856 (GRCm39)	missense	unknown
Z1186:Xaf1	UTSW	11	72,199,849 (GRCm39)	frame shift	probably null
Z1186:Xaf1	UTSW	11	72,199,846 (GRCm39)	frame shift	probably null
Z1186:Xaf1	UTSW	11	72,199,792 (GRCm39)	missense	unknown
Z1186:Xaf1	UTSW	11	72,199,476 (GRCm39)	missense	probably benign
Z1186:Xaf1	UTSW	11	72,197,434 (GRCm39)	missense	probably benign
Z1186:Xaf1	UTSW	11	72,197,429 (GRCm39)	missense	probably damaging	1.00
Z1186:Xaf1	UTSW	11	72,197,426 (GRCm39)	missense	probably benign	0.19
Z1186:Xaf1	UTSW	11	72,199,881 (GRCm39)	missense	unknown
Z1187:Xaf1	UTSW	11	72,199,881 (GRCm39)	missense	unknown
Z1187:Xaf1	UTSW	11	72,199,856 (GRCm39)	missense	unknown
Z1187:Xaf1	UTSW	11	72,199,846 (GRCm39)	frame shift	probably null
Z1187:Xaf1	UTSW	11	72,199,792 (GRCm39)	missense	unknown
Z1187:Xaf1	UTSW	11	72,199,476 (GRCm39)	missense	probably benign
Z1187:Xaf1	UTSW	11	72,197,434 (GRCm39)	missense	probably benign
Z1187:Xaf1	UTSW	11	72,197,429 (GRCm39)	missense	probably damaging	1.00
Z1187:Xaf1	UTSW	11	72,197,426 (GRCm39)	missense	probably benign	0.19
Z1188:Xaf1	UTSW	11	72,197,426 (GRCm39)	missense	probably benign	0.19
Z1188:Xaf1	UTSW	11	72,197,429 (GRCm39)	missense	probably damaging	1.00
Z1188:Xaf1	UTSW	11	72,197,434 (GRCm39)	missense	probably benign
Z1188:Xaf1	UTSW	11	72,199,476 (GRCm39)	missense	probably benign
Z1188:Xaf1	UTSW	11	72,199,792 (GRCm39)	missense	unknown
Z1188:Xaf1	UTSW	11	72,199,846 (GRCm39)	frame shift	probably null
Z1188:Xaf1	UTSW	11	72,199,856 (GRCm39)	missense	unknown
Z1188:Xaf1	UTSW	11	72,199,881 (GRCm39)	missense	unknown
Z1189:Xaf1	UTSW	11	72,199,856 (GRCm39)	missense	unknown
Z1189:Xaf1	UTSW	11	72,199,847 (GRCm39)	frame shift	probably null
Z1189:Xaf1	UTSW	11	72,199,846 (GRCm39)	frame shift	probably null
Z1189:Xaf1	UTSW	11	72,199,792 (GRCm39)	missense	unknown
Z1189:Xaf1	UTSW	11	72,199,476 (GRCm39)	missense	probably benign
Z1189:Xaf1	UTSW	11	72,197,434 (GRCm39)	missense	probably benign
Z1189:Xaf1	UTSW	11	72,197,429 (GRCm39)	missense	probably damaging	1.00
Z1189:Xaf1	UTSW	11	72,197,426 (GRCm39)	missense	probably benign	0.19
Z1189:Xaf1	UTSW	11	72,199,881 (GRCm39)	missense	unknown
Z1190:Xaf1	UTSW	11	72,199,881 (GRCm39)	missense	unknown
Z1190:Xaf1	UTSW	11	72,199,856 (GRCm39)	missense	unknown
Z1190:Xaf1	UTSW	11	72,199,846 (GRCm39)	frame shift	probably null
Z1190:Xaf1	UTSW	11	72,199,792 (GRCm39)	missense	unknown
Z1190:Xaf1	UTSW	11	72,199,476 (GRCm39)	missense	probably benign
Z1190:Xaf1	UTSW	11	72,197,434 (GRCm39)	missense	probably benign
Z1190:Xaf1	UTSW	11	72,197,429 (GRCm39)	missense	probably damaging	1.00
Z1190:Xaf1	UTSW	11	72,197,426 (GRCm39)	missense	probably benign	0.19
Z1191:Xaf1	UTSW	11	72,199,856 (GRCm39)	missense	unknown
Z1191:Xaf1	UTSW	11	72,199,849 (GRCm39)	frame shift	probably null
Z1191:Xaf1	UTSW	11	72,199,846 (GRCm39)	frame shift	probably null
Z1191:Xaf1	UTSW	11	72,199,792 (GRCm39)	missense	unknown
Z1191:Xaf1	UTSW	11	72,199,476 (GRCm39)	missense	probably benign
Z1191:Xaf1	UTSW	11	72,197,434 (GRCm39)	missense	probably benign
Z1191:Xaf1	UTSW	11	72,197,429 (GRCm39)	missense	probably damaging	1.00
Z1191:Xaf1	UTSW	11	72,197,426 (GRCm39)	missense	probably benign	0.19
Z1191:Xaf1	UTSW	11	72,199,881 (GRCm39)	missense	unknown
Z1192:Xaf1	UTSW	11	72,199,849 (GRCm39)	frame shift	probably null
Z1192:Xaf1	UTSW	11	72,199,847 (GRCm39)	frame shift	probably null
Z1192:Xaf1	UTSW	11	72,199,846 (GRCm39)	frame shift	probably null
Z1192:Xaf1	UTSW	11	72,199,792 (GRCm39)	missense	unknown
Z1192:Xaf1	UTSW	11	72,199,476 (GRCm39)	missense	probably benign
Z1192:Xaf1	UTSW	11	72,197,434 (GRCm39)	missense	probably benign
Z1192:Xaf1	UTSW	11	72,197,429 (GRCm39)	missense	probably damaging	1.00
Z1192:Xaf1	UTSW	11	72,197,426 (GRCm39)	missense	probably benign	0.19
Z1192:Xaf1	UTSW	11	72,199,881 (GRCm39)	missense	unknown
Z1192:Xaf1	UTSW	11	72,199,856 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTTCCTGTGTGGCTAAGGC -3'
(R):5'- TGCCCAAAGGAAACCTTGGAAC -3'

Sequencing Primer
(F):5'- ATGCTCATGAGTACAGGC -3'
(R):5'- TGGAACAAACCAAACCAAATAAATG -3'

Posted On

2014-08-01