Mutagenetix > Incidental Mutation

Incidental Mutation 'R4020:Ciapin1'

312737

Institutional Source

Beutler Lab

Gene Symbol

Ciapin1

Ensembl Gene

ENSMUSG00000031781

Gene Name

cytokine induced apoptosis inhibitor 1

Synonyms

anamorsin, 2810413N20Rik

MMRRC Submission

040954-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95546432-95564986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95555814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 119 (L119M)

Ref Sequence

ENSEMBL: ENSMUSP00000125451 (fasta)

Gene Model

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

AlphaFold

Q8WTY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034233
AA Change: L119M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034233
Gene: ENSMUSG00000031781
AA Change: L119M

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: ENSMUST00000159377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160898

Predicted Effect

unknown
Transcript: ENSMUST00000161762
AA Change: L45M

SMART Domains

Protein: ENSMUSP00000123794
Gene: ENSMUSG00000031781
AA Change: L45M

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: L64M

SMART Domains

Protein: ENSMUSP00000125474
Gene: ENSMUSG00000031781
AA Change: L64M

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 damaging
Transcript: ENSMUST00000162538
AA Change: L119M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125451
Gene: ENSMUSG00000031781
AA Change: L119M

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

probably benign
Transcript: ENSMUST00000162357

Meta Mutation Damage Score

0.6112

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (54/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	C	8: 89,035,362 (GRCm39)	V89L	probably benign	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Akr1b10	C	T	6: 34,369,388 (GRCm39)	T206I	probably benign	Het
Ap4e1	C	T	2: 126,903,846 (GRCm39)	S916F	probably benign	Het
Apob	C	T	12: 8,044,914 (GRCm39)	Q845*	probably null	Het
Asb4	A	G	6: 5,390,803 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,066,724 (GRCm39)		probably benign	Het
C1ra	A	T	6: 124,496,736 (GRCm39)	T391S	probably benign	Het
Catsperg2	C	A	7: 29,416,429 (GRCm39)	D328Y	probably damaging	Het
Crhr2	A	G	6: 55,077,765 (GRCm39)		probably benign	Het
Cyp2j6	A	G	4: 96,406,407 (GRCm39)	S455P	probably benign	Het
Dctn4	G	A	18: 60,671,329 (GRCm39)		probably benign	Het
Defa25	C	T	8: 21,575,245 (GRCm39)	R75C	probably benign	Het
Dnajc10	T	C	2: 80,175,296 (GRCm39)	L561P	probably damaging	Het
Dnajc7	A	T	11: 100,482,292 (GRCm39)	F185L	probably damaging	Het
Dock9	T	C	14: 121,844,267 (GRCm39)	I1175V	probably benign	Het
Drosha	T	G	15: 12,837,422 (GRCm39)	L302R	possibly damaging	Het
Efcab5	C	T	11: 76,994,930 (GRCm39)	V1214I	probably benign	Het
Erich3	G	A	3: 154,419,686 (GRCm39)	R260H	probably damaging	Het
Fam168b	T	C	1: 34,867,860 (GRCm39)	T47A	possibly damaging	Het
Gorasp1	G	A	9: 119,757,936 (GRCm39)	R290C	probably benign	Het
Gtf2a1	A	G	12: 91,539,351 (GRCm39)	S94P	possibly damaging	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Impdh1	T	C	6: 29,202,693 (GRCm39)	I446V	probably benign	Het
Krtap5-1	T	C	7: 141,850,094 (GRCm39)		probably null	Het
Lipo3	T	A	19: 33,764,804 (GRCm39)	I17L	probably benign	Het
Lrrc37	A	G	11: 103,506,119 (GRCm39)	S1950P	probably benign	Het
Lss	T	C	10: 76,383,278 (GRCm39)	M526T	probably damaging	Het
Med12l	A	C	3: 59,155,363 (GRCm39)	Q1181P	probably damaging	Het
Mtrf1l	T	C	10: 5,767,454 (GRCm39)	T221A	probably benign	Het
Muc21	T	C	17: 35,930,953 (GRCm39)		probably benign	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nfrkb	T	A	9: 31,325,407 (GRCm39)	L950Q	possibly damaging	Het
Nherf4	A	T	9: 44,162,117 (GRCm39)		probably null	Het
Oplah	A	G	15: 76,181,476 (GRCm39)	Y1155H	probably damaging	Het
Or5b105	T	G	19: 13,079,790 (GRCm39)	K287Q	probably damaging	Het
Pcnx1	C	T	12: 81,965,018 (GRCm39)	T395I	probably damaging	Het
Pitrm1	A	G	13: 6,606,723 (GRCm39)	H259R	probably damaging	Het
Pllp	C	A	8: 95,406,072 (GRCm39)	M70I	possibly damaging	Het
Pop1	A	G	15: 34,508,926 (GRCm39)	T334A	probably benign	Het
Prep	T	C	10: 44,968,894 (GRCm39)		probably benign	Het
Ptprz1	C	A	6: 22,959,623 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,455,390 (GRCm39)	S170G	probably damaging	Het
Sco1	T	G	11: 66,954,846 (GRCm39)	S284A	probably benign	Het
Slc25a10	T	A	11: 120,388,265 (GRCm39)	M227K	probably damaging	Het
Trav7-6	A	G	14: 53,954,638 (GRCm39)	K56R	probably benign	Het
Ubr4	T	G	4: 139,179,116 (GRCm39)	C3322G	probably damaging	Het
Unc5a	T	C	13: 55,151,182 (GRCm39)	Y608H	probably damaging	Het
Zfand1	A	C	3: 10,405,816 (GRCm39)	N262K	probably benign	Het
Zfp335	C	T	2: 164,743,380 (GRCm39)	R536H	probably 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
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
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'- AGGCAGCAAGTATCACGTTAC -3'
(R):5'- CTAACATTCTTTGGGAGGGGTTTCC -3'

Sequencing Primer
(F):5'- GCAGCAAGTATCACGTTACTTCCTAG -3'
(R):5'- CCAGAGGTCTTGAATTCAATTCCCAG -3'

Posted On

2015-04-30