Mutagenetix > Incidental Mutation

Incidental Mutation 'R5022:Xiap'

389312

Institutional Source

Beutler Lab

Gene Symbol

Xiap

Ensembl Gene

ENSMUSG00000025860

Gene Name

X-linked inhibitor of apoptosis

Synonyms

IAP3, 1110015C02Rik, Aipa, ILP-1, Birc4, Api3

MMRRC Submission

042613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5022 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

42059679-42109656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42094465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 23 (F23L)

Ref Sequence

ENSEMBL: ENSMUSP00000153528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026978] [ENSMUST00000055483] [ENSMUST00000115094] [ENSMUST00000115095] [ENSMUST00000126375] [ENSMUST00000224454]

AlphaFold

Q60989

Predicted Effect

probably benign
Transcript: ENSMUST00000026978
AA Change: F23L

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026978
Gene: ENSMUSG00000025860
AA Change: F23L

Domain	Start	End	E-Value	Type
BIR	24	95	3.67e-31	SMART
BIR	161	232	7.44e-41	SMART
BIR	262	331	6.06e-32	SMART
PDB:2KNA\|A	351	436	5e-41	PDB
low complexity region	437	446	N/A	INTRINSIC
RING	449	483	4.05e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055483
AA Change: F23L

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000061074
Gene: ENSMUSG00000025860
AA Change: F23L

Domain	Start	End	E-Value	Type
BIR	24	95	3.67e-31	SMART
BIR	161	232	7.44e-41	SMART
BIR	262	331	6.06e-32	SMART
PDB:2KNA\|A	351	436	5e-41	PDB
low complexity region	437	446	N/A	INTRINSIC
RING	449	483	4.05e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115094
AA Change: F23L

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110746
Gene: ENSMUSG00000025860
AA Change: F23L

Domain	Start	End	E-Value	Type
BIR	24	95	3.67e-31	SMART
BIR	161	232	7.44e-41	SMART
BIR	262	331	6.06e-32	SMART
PDB:2KNA\|A	351	436	5e-41	PDB
low complexity region	437	446	N/A	INTRINSIC
RING	449	483	4.05e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115095
AA Change: F23L

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110747
Gene: ENSMUSG00000025860
AA Change: F23L

Domain	Start	End	E-Value	Type
BIR	24	95	3.67e-31	SMART
BIR	161	232	7.44e-41	SMART
BIR	262	331	6.06e-32	SMART
PDB:2KNA\|A	351	436	5e-41	PDB
low complexity region	437	446	N/A	INTRINSIC
RING	449	483	4.05e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126375
AA Change: F23L

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121482
Gene: ENSMUSG00000025860
AA Change: F23L

Domain	Start	End	E-Value	Type
PDB:2POI\|A	10	53	3e-20	PDB
SCOP:d1jd5a_	22	52	8e-7	SMART
Blast:BIR	24	53	4e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150635

Predicted Effect

probably benign
Transcript: ENSMUST00000224454
AA Change: F23L

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0870

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

99% (110/111)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the inhibitor of apoptosis (IAP) family of proteins. While first identified for its role in blocking apoptosis, this protein modulates many other signaling processes including nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) pathways and inflammatory responses. This protein blocks apoptosis by binding and inhibiting target caspases after they have been activated. Binding occurs to some, but not all, caspases. This protein has several conserved regions, including baculoviral IAP repeat (BIR) motifs and a RING finger E3 ligase domain. In humans, mutations in this gene are linked to immunodeficiency in X-linked lymphoproliferative syndrome type-2 (XLP-2). A pseudogene of this gene is found on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mutants are indistinguishable from normal littermates, but increased levels of protein from other Birc gene family members suggest a compensatory mechanism in the absence of the Birc4 gene's product. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	TCGACTGC	T	4: 53,041,570 (GRCm38)		probably null	Het
Abca15	T	C	7: 120,346,096 (GRCm38)	I465T	probably damaging	Het
Abca3	C	T	17: 24,374,300 (GRCm38)	R224C	probably damaging	Het
Abcb4	T	A	5: 8,909,054 (GRCm38)		probably null	Het
Acan	T	C	7: 79,092,808 (GRCm38)		probably null	Het
Aebp2	G	A	6: 140,637,730 (GRCm38)	R109Q	possibly damaging	Het
Agfg2	A	T	5: 137,660,160 (GRCm38)		probably null	Het
Ankib1	T	A	5: 3,734,011 (GRCm38)	I322F	possibly damaging	Het
AW551984	A	T	9: 39,597,965 (GRCm38)	N293K	probably benign	Het
BC028528	T	A	3: 95,888,823 (GRCm38)		probably benign	Het
Bicc1	A	G	10: 70,947,883 (GRCm38)	S393P	possibly damaging	Het
Birc6	A	G	17: 74,692,332 (GRCm38)	Y4656C	probably damaging	Het
Bmp3	A	G	5: 98,872,824 (GRCm38)	R369G	probably damaging	Het
C1d	T	A	11: 17,266,674 (GRCm38)	N135K	probably benign	Het
Ccdc148	G	A	2: 58,827,632 (GRCm38)	A453V	probably damaging	Het
Cd163	C	T	6: 124,325,288 (GRCm38)	T937I	probably damaging	Het
Celf2	C	T	2: 6,607,847 (GRCm38)		probably benign	Het
Chga	T	C	12: 102,562,837 (GRCm38)	W358R	probably damaging	Het
Clec4b2	A	T	6: 123,200,956 (GRCm38)	S77C	probably null	Het
Crim1	T	C	17: 78,280,129 (GRCm38)	V221A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,217,633 (GRCm38)	S116T	probably damaging	Het
Dlg5	T	C	14: 24,136,622 (GRCm38)	E1847G	probably damaging	Het
Dmxl1	T	A	18: 49,895,127 (GRCm38)	I2206K	probably damaging	Het
Dusp7	T	A	9: 106,373,741 (GRCm38)	L355Q	probably damaging	Het
Exd2	T	A	12: 80,496,790 (GRCm38)	N582K	probably damaging	Het
Fbln1	G	A	15: 85,237,626 (GRCm38)	S316N	probably damaging	Het
Fchsd1	A	G	18: 37,964,810 (GRCm38)	I340T	possibly damaging	Het
Fn1	T	C	1: 71,624,179 (GRCm38)	Y1050C	probably damaging	Het
Fsip2	A	G	2: 82,979,429 (GRCm38)	I2031V	probably benign	Het
Gm10803	A	C	2: 93,564,172 (GRCm38)	L96F	probably damaging	Het
Gm12169	T	A	11: 46,528,532 (GRCm38)	D58E	probably damaging	Het
Gm14569	T	C	X: 36,430,817 (GRCm38)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351 (GRCm38)		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535 (GRCm38)		noncoding transcript	Het
Gm4907	G	A	X: 23,907,241 (GRCm38)	G327E	probably damaging	Het
Gm5039	T	C	12: 88,321,301 (GRCm38)	I61V	probably benign	Het
Gm5420	A	T	10: 21,691,727 (GRCm38)		noncoding transcript	Het
Gm6803	A	T	12: 88,018,711 (GRCm38)	S21T	unknown	Het
Gm7104	A	T	12: 88,285,759 (GRCm38)		noncoding transcript	Het
Gp2	A	G	7: 119,449,114 (GRCm38)	I427T	probably damaging	Het
Gpc4	G	A	X: 52,074,563 (GRCm38)	R148C	probably damaging	Het
Gpr142	A	C	11: 114,804,388 (GRCm38)	S60R	probably benign	Het
Helz2	T	C	2: 181,240,569 (GRCm38)	R144G	probably benign	Het
Herc1	A	T	9: 66,470,326 (GRCm38)	K3458M	possibly damaging	Het
Hnf4g	G	T	3: 3,644,587 (GRCm38)	A144S	probably damaging	Het
Irs2	A	C	8: 10,987,012 (GRCm38)	*1322G	probably null	Het
Keg1	A	G	19: 12,719,157 (GRCm38)	N288S	probably damaging	Het
Kif19a	G	A	11: 114,767,227 (GRCm38)	M37I	probably benign	Het
Klhl1	G	A	14: 96,136,706 (GRCm38)	P635S	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lsm11	T	C	11: 45,944,839 (GRCm38)	D25G	probably damaging	Het
Manea	A	T	4: 26,336,630 (GRCm38)	Y215*	probably null	Het
Mdga2	C	T	12: 66,470,760 (GRCm38)	C100Y	possibly damaging	Het
Mthfd1	T	A	12: 76,301,328 (GRCm38)	M582K	probably damaging	Het
Mthfd1	T	G	12: 76,294,374 (GRCm38)	V480G	probably damaging	Het
Myh7b	G	C	2: 155,632,373 (GRCm38)	R1669S	possibly damaging	Het
Nanos1	T	C	19: 60,756,980 (GRCm38)	Y239H	probably damaging	Het
Nat8	G	A	6: 85,830,857 (GRCm38)	T98I	possibly damaging	Het
Ndufs3	C	A	2: 90,898,660 (GRCm38)	A161S	probably benign	Het
Nexmif	A	T	X: 104,087,350 (GRCm38)	N320K	probably damaging	Het
Olfr1216	A	G	2: 89,014,043 (GRCm38)	V7A	probably damaging	Het
Olfr1228	C	T	2: 89,249,417 (GRCm38)	M92I	probably benign	Het
Olfr164	A	T	16: 19,286,059 (GRCm38)	V228D	probably damaging	Het
Olfr239	T	C	17: 33,199,777 (GRCm38)	F239S	probably damaging	Het
Olfr457	A	T	6: 42,471,287 (GRCm38)	V297E	possibly damaging	Het
Olfr589	G	A	7: 103,155,735 (GRCm38)	P4L	probably benign	Het
Olfr727	T	C	14: 50,127,012 (GRCm38)	V145A	possibly damaging	Het
Olfr822	T	C	10: 130,074,593 (GRCm38)	L61P	probably damaging	Het
Pcdhb14	T	A	18: 37,450,170 (GRCm38)	N776K	probably benign	Het
Pip5k1c	G	A	10: 81,310,889 (GRCm38)		probably null	Het
Plk4	G	A	3: 40,802,077 (GRCm38)		probably null	Het
Prmt8	A	G	6: 127,711,163 (GRCm38)	Y231H	possibly damaging	Het
Prpf4b	T	C	13: 34,883,599 (GRCm38)		probably benign	Het
Ptpn21	G	A	12: 98,679,407 (GRCm38)	R1091C	probably damaging	Het
Pwwp2b	C	T	7: 139,255,578 (GRCm38)	P312S	possibly damaging	Het
Rad21	A	T	15: 51,966,706 (GRCm38)	I503K	probably benign	Het
Rai14	A	G	15: 10,574,506 (GRCm38)	S789P	probably damaging	Het
Rbm26	C	T	14: 105,144,252 (GRCm38)	D486N	probably damaging	Het
Rnf20	A	G	4: 49,642,016 (GRCm38)		probably benign	Het
Ros1	A	G	10: 52,124,075 (GRCm38)	V1118A	possibly damaging	Het
Sema3d	A	C	5: 12,584,956 (GRCm38)	Y663S	probably damaging	Het
Serpina6	A	G	12: 103,651,712 (GRCm38)	W281R	probably damaging	Het
Slc8a3	A	G	12: 81,199,558 (GRCm38)	V900A	probably damaging	Het
Spats2l	G	T	1: 57,879,556 (GRCm38)	V30L	probably damaging	Het
Spg21	A	G	9: 65,475,949 (GRCm38)	D139G	probably damaging	Het
Sun3	T	C	11: 9,038,314 (GRCm38)	T3A	probably damaging	Het
Tcrg-V1	T	A	13: 19,340,231 (GRCm38)	S42T	probably benign	Het
Tep1	A	G	14: 50,828,999 (GRCm38)	Y2335H	probably benign	Het
Timm21	C	A	18: 84,949,414 (GRCm38)	V112L	possibly damaging	Het
Tlk1	A	T	2: 70,742,065 (GRCm38)	N386K	probably benign	Het
Trappc10	G	T	10: 78,217,160 (GRCm38)	F260L	possibly damaging	Het
Trmt112	T	C	19: 6,910,753 (GRCm38)	V91A	probably benign	Het
Ucp2	A	T	7: 100,498,372 (GRCm38)	N186I	possibly damaging	Het
Vmn1r119	A	G	7: 21,012,320 (GRCm38)	S46P	probably benign	Het
Vmn2r101	A	T	17: 19,611,387 (GRCm38)		probably null	Het
Vmn2r105	T	A	17: 20,208,414 (GRCm38)	H800L	probably damaging	Het
Vmn2r69	T	C	7: 85,411,159 (GRCm38)	M406V	possibly damaging	Het
Vmn2r84	A	G	10: 130,386,548 (GRCm38)	L601P	probably damaging	Het
Vps16	A	G	2: 130,439,452 (GRCm38)	S235G	probably benign	Het
Wap	T	C	11: 6,637,339 (GRCm38)		probably benign	Het
Wdr11	A	G	7: 129,624,711 (GRCm38)	I744M	probably benign	Het
Xkr7	A	G	2: 153,054,380 (GRCm38)	T385A	probably benign	Het
Zfp524	A	T	7: 5,018,417 (GRCm38)	I315F	probably benign	Het
Zfp62	T	A	11: 49,215,729 (GRCm38)	S216T	probably damaging	Het
Znfx1	T	C	2: 167,039,826 (GRCm38)	Y217C	probably damaging	Het

Other mutations in Xiap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Xiap	APN	X	42,094,552 (GRCm38)	missense	probably damaging	1.00
IGL02015:Xiap	APN	X	42,096,610 (GRCm38)	unclassified	probably benign
IGL02093:Xiap	APN	X	42,099,827 (GRCm38)	splice site	probably benign
R5023:Xiap	UTSW	X	42,094,465 (GRCm38)	missense	probably benign	0.34
R5057:Xiap	UTSW	X	42,094,465 (GRCm38)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GTGGTTTGGTAATGTACGACTCTAC -3'
(R):5'- GCTGAGTCTCCATACTGCCATC -3'

Sequencing Primer
(F):5'- TGGTAATGTACGACTCTACTGTTTAG -3'
(R):5'- ATCTATCTATTGCCGCATGACAACTG -3'

Posted On

2016-06-06