Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Ciapin1'

16948

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: 88.0%
3x: 83.9%
10x: 69.3%
20x: 41.9%

Validation Efficiency

88% (67/76)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	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
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm2027	T	A	12: 44,269,145 (GRCm39)		probably benign	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
Hykk	T	A	9: 54,829,632 (GRCm39)		probably benign	Het
Kansl1l	T	C	1: 66,840,262 (GRCm39)	D346G	probably damaging	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
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Nav2	A	G	7: 49,220,462 (GRCm39)	E1669G	probably damaging	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
Or5p51	T	G	7: 107,444,124 (GRCm39)	D272A	probably damaging	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Pi4k2b	A	C	5: 52,914,260 (GRCm39)	D309A	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
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	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
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	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
Taok1	T	A	11: 77,444,543 (GRCm39)	M511L	probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem147	T	C	7: 30,427,526 (GRCm39)	Y97C	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
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zscan20	C	T	4: 128,479,675 (GRCm39)	V939I	possibly damaging	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

Posted On

2013-01-20