Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01631:Apip'

93478

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apip

Ensembl Gene

ENSMUSG00000010911

Gene Name

APAF1 interacting protein

Synonyms

APIP2, CGI-29, Mmrp19

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01631

Quality Score

Status

Chromosome

Chromosomal Location

102904020-102922989 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 102904194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011055] [ENSMUST00000011058] [ENSMUST00000111183] [ENSMUST00000132449]

AlphaFold

Q9WVQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000011055

SMART Domains

Protein: ENSMUSP00000011055
Gene: ENSMUSG00000010911

Domain	Start	End	E-Value	Type
Aldolase_II	25	221	1.64e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000011058

SMART Domains

Protein: ENSMUSP00000011058
Gene: ENSMUSG00000010914

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
Pfam:Biotin_lipoyl	57	131	1.3e-21	PFAM
low complexity region	148	172	N/A	INTRINSIC
Pfam:E3_binding	182	217	5e-9	PFAM
low complexity region	233	249	N/A	INTRINSIC
Pfam:2-oxoacid_dh	272	501	8.4e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111183

SMART Domains

Protein: ENSMUSP00000106814
Gene: ENSMUSG00000010914

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
Pfam:Biotin_lipoyl	57	131	1.8e-21	PFAM
low complexity region	148	172	N/A	INTRINSIC
Pfam:E3_binding	180	216	6.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124540

Predicted Effect

probably benign
Transcript: ENSMUST00000132449

SMART Domains

Protein: ENSMUSP00000119172
Gene: ENSMUSG00000010914

Domain	Start	End	E-Value	Type
Pfam:Biotin_lipoyl	5	66	1.3e-14	PFAM
low complexity region	83	107	N/A	INTRINSIC
Pfam:E3_binding	115	153	6.1e-14	PFAM
low complexity region	168	184	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4a	C	T	12: 71,069,036 (GRCm39)		probably benign	Het
Brwd1	C	A	16: 95,847,666 (GRCm39)	E98D	probably damaging	Het
Cactin	A	G	10: 81,159,058 (GRCm39)	E303G	probably benign	Het
Ccdc181	T	A	1: 164,107,713 (GRCm39)	I132K	possibly damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cog4	A	G	8: 111,608,472 (GRCm39)	E756G	probably damaging	Het
Ctsf	T	C	19: 4,908,106 (GRCm39)	L217P	probably damaging	Het
Dmp1	G	T	5: 104,360,734 (GRCm39)	R470L	probably benign	Het
Dnajc9	T	C	14: 20,438,176 (GRCm39)	D142G	probably benign	Het
Ednrb	T	A	14: 104,080,661 (GRCm39)	R84S	probably benign	Het
Gm1110	A	T	9: 26,809,212 (GRCm39)		probably null	Het
Has2	A	G	15: 56,545,072 (GRCm39)	S177P	possibly damaging	Het
Herc6	C	T	6: 57,581,092 (GRCm39)	S264F	probably benign	Het
Il1rl2	T	A	1: 40,395,974 (GRCm39)		probably null	Het
Ltbp2	A	G	12: 84,855,920 (GRCm39)		probably null	Het
Map4	A	G	9: 109,892,201 (GRCm39)		probably benign	Het
Marchf4	T	A	1: 72,491,690 (GRCm39)	K194*	probably null	Het
Megf10	A	G	18: 57,392,869 (GRCm39)	D422G	possibly damaging	Het
Mfsd2a	C	A	4: 122,843,100 (GRCm39)	A394S	probably benign	Het
Mmp27	T	C	9: 7,573,289 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,161,560 (GRCm39)	Y370H	possibly damaging	Het
Or4a81	T	C	2: 89,619,129 (GRCm39)	D189G	probably damaging	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Pramel31	A	G	4: 144,089,015 (GRCm39)	H111R	probably benign	Het
Ptk2	G	A	15: 73,088,220 (GRCm39)	H859Y	probably damaging	Het
Ptprq	T	A	10: 107,479,399 (GRCm39)	E1209D	probably benign	Het
Rhot1	C	T	11: 80,156,600 (GRCm39)	T636M	probably damaging	Het
Ripk2	C	A	4: 16,163,342 (GRCm39)	A19S	possibly damaging	Het
Rsbn1l	G	A	5: 21,101,569 (GRCm39)	S657L	probably damaging	Het
Rsbn1l	A	T	5: 21,101,570 (GRCm39)	S657T	probably damaging	Het
Sema6c	A	G	3: 95,077,714 (GRCm39)	T450A	probably benign	Het
Slc25a1	C	T	16: 17,743,930 (GRCm39)	C262Y	probably damaging	Het
Slfn3	T	C	11: 83,104,361 (GRCm39)	S288P	probably damaging	Het
Snrnp200	T	A	2: 127,080,744 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,495 (GRCm39)	I228M	probably damaging	Het
Ssu2	T	C	6: 112,351,843 (GRCm39)	Y294C	probably damaging	Het
Terb1	A	G	8: 105,199,496 (GRCm39)	S483P	probably damaging	Het
Tsga13	T	C	6: 30,890,501 (GRCm39)	K8E	possibly damaging	Het
Zbbx	T	G	3: 74,985,984 (GRCm39)	D351A	probably damaging	Het
Zfp454	G	T	11: 50,774,562 (GRCm39)	A37D	probably benign	Het

Other mutations in Apip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Apip	APN	2	102,922,257 (GRCm39)	missense	probably benign	0.02
IGL01736:Apip	APN	2	102,917,486 (GRCm39)	missense	probably damaging	0.98
IGL02734:Apip	APN	2	102,919,889 (GRCm39)	splice site	probably benign
BB006:Apip	UTSW	2	102,913,366 (GRCm39)	missense	probably benign	0.00
BB016:Apip	UTSW	2	102,913,366 (GRCm39)	missense	probably benign	0.00
G1patch:Apip	UTSW	2	102,922,870 (GRCm39)	missense	possibly damaging	0.79
R0256:Apip	UTSW	2	102,918,916 (GRCm39)	missense	possibly damaging	0.68
R1518:Apip	UTSW	2	102,919,838 (GRCm39)	missense	probably damaging	1.00
R1829:Apip	UTSW	2	102,919,007 (GRCm39)	missense	probably benign	0.09
R4930:Apip	UTSW	2	102,922,226 (GRCm39)	nonsense	probably null
R6292:Apip	UTSW	2	102,922,812 (GRCm39)	missense	probably benign	0.42
R6300:Apip	UTSW	2	102,917,498 (GRCm39)	missense	possibly damaging	0.92
R6725:Apip	UTSW	2	102,922,870 (GRCm39)	missense	possibly damaging	0.79
R6759:Apip	UTSW	2	102,922,191 (GRCm39)	missense	probably benign	0.02
R6843:Apip	UTSW	2	102,922,834 (GRCm39)	missense	probably benign	0.14
R6968:Apip	UTSW	2	102,919,798 (GRCm39)	missense	possibly damaging	0.94
R7168:Apip	UTSW	2	102,922,813 (GRCm39)	nonsense	probably null
R7494:Apip	UTSW	2	102,922,896 (GRCm39)	missense	probably benign	0.00
R7929:Apip	UTSW	2	102,913,366 (GRCm39)	missense	probably benign	0.00
R8492:Apip	UTSW	2	102,922,866 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09