Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Ciapin1'

64460

Institutional Source

Beutler Lab

Gene Symbol

Ciapin1

Ensembl Gene

ENSMUSG00000031781

Gene Name

cytokine induced apoptosis inhibitor 1

Synonyms

anamorsin, 2810413N20Rik

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

95546432-95564986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95551847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 246 (N246S)

Ref Sequence

ENSEMBL: ENSMUSP00000125451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034233] [ENSMUST00000161792] [ENSMUST00000162538]

AlphaFold

Q8WTY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034233
AA Change: N246S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034233
Gene: ENSMUSG00000031781
AA Change: N246S

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	18	95	4.7e-6	PFAM
Pfam:CIAPIN1	228	270	8e-8	PFAM
Pfam:CIAPIN1	262	301	3.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160898

Predicted Effect

probably benign
Transcript: ENSMUST00000161762

SMART Domains

Protein: ENSMUSP00000123794
Gene: ENSMUSG00000031781

Domain	Start	End	E-Value	Type
PDB:2LD4\|A	1	171	9e-95	PDB
SCOP:d1khha_	8	146	2e-7	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000161792
AA Change: N191S

SMART Domains

Protein: ENSMUSP00000125474
Gene: ENSMUSG00000031781
AA Change: N191S

Domain	Start	End	E-Value	Type
PDB:2LD4\|A	10	76	3e-31	PDB
Pfam:CIAPIN1	125	158	1.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162357

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162538
AA Change: N246S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125451
Gene: ENSMUSG00000031781
AA Change: N246S

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	18	95	4.7e-6	PFAM
Pfam:CIAPIN1	228	270	8e-8	PFAM
Pfam:CIAPIN1	262	301	3.3e-19	PFAM

Meta Mutation Damage Score

0.1990

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos with erythropoietic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	Het
Alpi	A	G	1: 87,028,881 (GRCm39)		probably benign	Het
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,551 (GRCm39)		probably benign	Het
Capn2	C	A	1: 182,301,434 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Cmip	T	A	8: 118,153,293 (GRCm39)	I270N	probably damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah9	A	G	11: 66,050,866 (GRCm39)	V142A	probably benign	Het
Dnai4	A	T	4: 102,917,131 (GRCm39)	I571K	probably damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm10238	A	G	15: 75,109,434 (GRCm39)		noncoding transcript	Het
Gm4787	T	A	12: 81,425,840 (GRCm39)	D106V	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Ifna11	A	G	4: 88,738,512 (GRCm39)	D106G	possibly damaging	Het
Igkv1-115	G	A	6: 68,138,402 (GRCm39)	V2I	probably benign	Het
Itga6	T	C	2: 71,657,060 (GRCm39)		probably benign	Het
Kcnj6	C	A	16: 94,742,056 (GRCm39)	K5N	probably benign	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,380 (GRCm39)		probably null	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Orm3	A	G	4: 63,274,883 (GRCm39)	T64A	probably benign	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Phldb1	C	T	9: 44,619,201 (GRCm39)	R844H	probably damaging	Het
Piezo2	T	C	18: 63,235,155 (GRCm39)	D814G	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pth1r	A	T	9: 110,556,618 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Rnf32	A	G	5: 29,430,125 (GRCm39)	T315A	probably benign	Het
Rpl5	T	C	5: 108,049,766 (GRCm39)	Y12H	probably benign	Het
Serpinh1	A	T	7: 98,998,521 (GRCm39)	S36R	probably damaging	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sf3a3	G	A	4: 124,608,748 (GRCm39)	V21I	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slitrk1	T	C	14: 109,150,749 (GRCm39)		probably benign	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Sprr3	C	T	3: 92,364,609 (GRCm39)	M78I	probably benign	Het
Ssmem1	A	G	6: 30,519,420 (GRCm39)	E35G	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem150a	A	G	6: 72,335,742 (GRCm39)		probably null	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,644,771 (GRCm39)		probably null	Het
Tusc3	G	A	8: 39,530,421 (GRCm39)	G129R	possibly damaging	Het
Uspl1	A	G	5: 149,146,515 (GRCm39)	Y422C	probably damaging	Het
Vmn2r88	A	T	14: 51,651,597 (GRCm39)	T312S	probably benign	Het
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zfp947	T	A	17: 22,365,165 (GRCm39)	T170S	probably benign	Het

Other mutations in Ciapin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0070:Ciapin1	UTSW	8	95,551,847 (GRCm39)	missense	possibly damaging	0.91
R0218:Ciapin1	UTSW	8	95,554,938 (GRCm39)	missense	probably damaging	0.98
R1980:Ciapin1	UTSW	8	95,559,161 (GRCm39)	missense	probably benign	0.00
R2197:Ciapin1	UTSW	8	95,555,787 (GRCm39)	nonsense	probably null
R2273:Ciapin1	UTSW	8	95,558,415 (GRCm39)	missense	probably damaging	0.98
R4020:Ciapin1	UTSW	8	95,555,814 (GRCm39)	missense	probably damaging	1.00
R5790:Ciapin1	UTSW	8	95,551,811 (GRCm39)	intron	probably benign
R7236:Ciapin1	UTSW	8	95,550,338 (GRCm39)	missense
R8268:Ciapin1	UTSW	8	95,558,511 (GRCm39)	missense	probably benign	0.00
R8979:Ciapin1	UTSW	8	95,549,753 (GRCm39)	missense	probably damaging	1.00
R9114:Ciapin1	UTSW	8	95,558,400 (GRCm39)	critical splice donor site	probably null
R9696:Ciapin1	UTSW	8	95,555,065 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGACTTGCCCTGAGCAACCTTATC -3'
(R):5'- GTCAGCTTTTCATCAGAGGGACCG -3'

Sequencing Primer
(F):5'- tccacttgcttctgcctc -3'
(R):5'- GTGGCTGTGTTGCTAAGTG -3'

Posted On

2013-08-06