Mutagenetix > Incidental Mutation

Incidental Mutation 'R1829:Apip'

207074

Institutional Source

Beutler Lab

Gene Symbol

Apip

Ensembl Gene

ENSMUSG00000010911

Gene Name

APAF1 interacting protein

Synonyms

APIP2, CGI-29, Mmrp19

MMRRC Submission

039856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102904020-102922989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102919007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 102 (N102K)

Ref Sequence

ENSEMBL: ENSMUSP00000011055 (fasta)

Gene Model

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

AlphaFold

Q9WVQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000011055
AA Change: N102K

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000011055
Gene: ENSMUSG00000010911
AA Change: N102K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155004

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,769,338 (GRCm39)	D287V	probably damaging	Het
Abca12	A	G	1: 71,334,188 (GRCm39)	C1105R	probably benign	Het
Abca8b	T	A	11: 109,833,167 (GRCm39)	N1178Y	probably damaging	Het
Abhd12	A	G	2: 150,685,318 (GRCm39)	L189P	probably damaging	Het
Acap2	G	T	16: 30,929,752 (GRCm39)	N435K	probably damaging	Het
Adam6b	G	T	12: 113,453,545 (GRCm39)	G121C	probably damaging	Het
Adgrb1	C	A	15: 74,452,435 (GRCm39)	C200*	probably null	Het
Agbl5	T	C	5: 31,060,408 (GRCm39)	S730P	possibly damaging	Het
Ahsg	G	A	16: 22,711,078 (GRCm39)		probably benign	Het
Aldh9a1	A	T	1: 167,189,423 (GRCm39)	K390N	probably benign	Het
Alpk2	T	A	18: 65,427,165 (GRCm39)	H1857L	possibly damaging	Het
Asxl2	T	C	12: 3,507,125 (GRCm39)	S106P	probably damaging	Het
Atp2b2	G	T	6: 113,750,329 (GRCm39)	R677S	probably damaging	Het
Barhl1	A	C	2: 28,799,857 (GRCm39)	M256R	probably damaging	Het
Cacnb2	A	T	2: 14,990,775 (GRCm39)	Q619L	possibly damaging	Het
Ccdc137	C	T	11: 120,349,038 (GRCm39)	P23L	probably benign	Het
Cdh11	A	T	8: 103,361,273 (GRCm39)	N688K	possibly damaging	Het
Cdh18	C	T	15: 23,173,938 (GRCm39)	P51S	probably damaging	Het
Cdin1	G	T	2: 115,473,173 (GRCm39)	R101L	possibly damaging	Het
Cfhr1	A	T	1: 139,481,338 (GRCm39)	Y181N	probably damaging	Het
Chmp3	A	G	6: 71,537,923 (GRCm39)	D50G	probably benign	Het
Crem	T	C	18: 3,295,037 (GRCm39)		probably null	Het
Cyb561a3	G	A	19: 10,559,757 (GRCm39)	W27*	probably null	Het
Cyp2d12	C	A	15: 82,442,257 (GRCm39)	N297K	possibly damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	T	A	14: 26,522,032 (GRCm39)	N1948K	probably damaging	Het
Dnah12	T	C	14: 26,494,980 (GRCm39)	L1346P	probably damaging	Het
Dsp	T	G	13: 38,377,171 (GRCm39)	L1652R	probably damaging	Het
Dstyk	G	A	1: 132,377,333 (GRCm39)	S66N	probably benign	Het
Ehhadh	T	C	16: 21,580,928 (GRCm39)	E688G	probably damaging	Het
Emsy	G	T	7: 98,251,937 (GRCm39)	H688N	possibly damaging	Het
Emsy	T	A	7: 98,251,936 (GRCm39)	H688L	possibly damaging	Het
Endod1	A	G	9: 14,268,222 (GRCm39)	L421P	probably damaging	Het
Fam222b	C	T	11: 78,045,861 (GRCm39)	P346L	probably damaging	Het
Fam3c	G	A	6: 22,309,436 (GRCm39)	R182W	probably damaging	Het
Gck	T	C	11: 5,860,984 (GRCm39)	D29G	probably damaging	Het
Gm10320	C	A	13: 98,626,207 (GRCm39)	R59L	probably damaging	Het
Gm21798	C	T	15: 64,689,675 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,957 (GRCm39)	T130A	possibly damaging	Het
Gpr153	T	A	4: 152,366,849 (GRCm39)	I334N	possibly damaging	Het
Greb1l	T	C	18: 10,509,314 (GRCm39)	L542P	probably damaging	Het
H2-T15	G	T	17: 36,368,896 (GRCm39)	F61L	probably damaging	Het
Hacl1	T	C	14: 31,362,491 (GRCm39)	E52G	probably benign	Het
Ice2	A	G	9: 69,314,635 (GRCm39)	Y128C	probably damaging	Het
Ikzf2	T	A	1: 69,581,446 (GRCm39)	I121L	probably benign	Het
Ipcef1	C	T	10: 6,869,900 (GRCm39)	A167T	probably benign	Het
Jakmip2	T	A	18: 43,715,145 (GRCm39)	D127V	possibly damaging	Het
Jph4	T	C	14: 55,352,368 (GRCm39)	T122A	probably damaging	Het
Kcns2	A	G	15: 34,838,949 (GRCm39)	E104G	probably damaging	Het
Lars2	A	C	9: 123,260,982 (GRCm39)	R384S	probably benign	Het
Lsmem1	T	A	12: 40,235,407 (GRCm39)	H3L	possibly damaging	Het
Lsmem1	G	T	12: 40,235,408 (GRCm39)	H3N	possibly damaging	Het
Ly6g2	T	G	15: 75,088,605 (GRCm39)		probably null	Het
Mfhas1	A	C	8: 36,057,222 (GRCm39)	S566R	probably benign	Het
Mfhas1	C	G	8: 36,057,402 (GRCm39)	R626G	probably benign	Het
Mgam	A	G	6: 40,643,826 (GRCm39)	T585A	probably damaging	Het
Mmp25	T	C	17: 23,858,997 (GRCm39)	K185E	probably benign	Het
Mtch1	T	C	17: 29,557,750 (GRCm39)	I243V	probably damaging	Het
Mtcp1	A	T	X: 74,455,271 (GRCm39)	Y25*	probably null	Het
Mybl2	A	G	2: 162,901,503 (GRCm39)	T35A	probably benign	Het
Myh11	T	C	16: 14,041,744 (GRCm39)	E736G	probably damaging	Het
Myh2	T	C	11: 67,067,385 (GRCm39)	I224T	probably damaging	Het
Mymx	T	C	17: 45,912,759 (GRCm39)		probably benign	Het
Nek10	A	G	14: 14,863,454 (GRCm38)		probably null	Het
Nsd1	A	T	13: 55,394,182 (GRCm39)	K697N	probably damaging	Het
Nynrin	A	G	14: 56,110,404 (GRCm39)	D1837G	possibly damaging	Het
Or14j4	G	A	17: 37,921,168 (GRCm39)	T158I	probably benign	Het
Or2ag2b	A	G	7: 106,418,214 (GRCm39)	H308R	probably benign	Het
Or52s1	A	T	7: 102,861,093 (GRCm39)	T9S	probably benign	Het
Or5p81	T	A	7: 108,266,851 (GRCm39)	I76N	probably benign	Het
Or6k4	T	A	1: 173,964,760 (GRCm39)	I150N	probably benign	Het
Pgap6	T	C	17: 26,341,194 (GRCm39)	Y766H	probably damaging	Het
Phf19	T	C	2: 34,801,781 (GRCm39)	T10A	probably benign	Het
Pkd1	A	T	17: 24,784,558 (GRCm39)	H368L	probably benign	Het
Plscr2	A	G	9: 92,172,808 (GRCm39)	R156G	probably damaging	Het
Ppp1r42	G	A	1: 10,070,311 (GRCm39)	R61C	probably benign	Het
Pptc7	T	G	5: 122,451,679 (GRCm39)	V45G	probably damaging	Het
Prlhr	G	A	19: 60,455,867 (GRCm39)	T233I	probably damaging	Het
Prr23a4	T	A	9: 98,785,446 (GRCm39)	I37N	possibly damaging	Het
Reps1	C	T	10: 17,983,462 (GRCm39)	T435I	probably damaging	Het
Ret	T	A	6: 118,130,912 (GRCm39)	T1084S	probably damaging	Het
Rgl2	T	A	17: 34,152,595 (GRCm39)	M402K	probably benign	Het
Rp2	A	G	X: 20,243,154 (GRCm39)	K43R	probably benign	Het
Rundc3b	A	T	5: 8,629,117 (GRCm39)	W95R	probably damaging	Het
Samd9l	T	C	6: 3,375,107 (GRCm39)	D718G	possibly damaging	Het
Scnn1b	G	A	7: 121,502,068 (GRCm39)	R242H	probably benign	Het
Smad4	G	T	18: 73,774,965 (GRCm39)	Q445K	probably benign	Het
Smchd1	G	T	17: 71,677,332 (GRCm39)	P1486T	probably damaging	Het
Snx25	G	T	8: 46,488,669 (GRCm39)	N895K	possibly damaging	Het
Sox2	A	G	3: 34,704,890 (GRCm39)	D109G	probably damaging	Het
Stfa2	A	T	16: 36,225,564 (GRCm39)	N38K	probably damaging	Het
Stfa2	C	A	16: 36,225,573 (GRCm39)	E35D	possibly damaging	Het
Stfa3	A	G	16: 36,271,023 (GRCm39)	L87P	probably damaging	Het
Strbp	T	C	2: 37,530,921 (GRCm39)	D111G	possibly damaging	Het
Supt20	C	A	3: 54,635,079 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,096,310 (GRCm39)	Y1437H	possibly damaging	Het
Tbx4	T	A	11: 85,802,746 (GRCm39)		probably null	Het
Tmem117	A	T	15: 94,992,432 (GRCm39)	N364I	probably damaging	Het
Trat1	T	C	16: 48,581,742 (GRCm39)	E45G	probably damaging	Het
Trpc2	G	A	7: 101,733,326 (GRCm39)	D92N	probably damaging	Het
Trpm1	G	A	7: 63,876,530 (GRCm39)	D528N	probably damaging	Het
Ttll9	A	G	2: 152,842,156 (GRCm39)	S337G	possibly damaging	Het
Utrn	A	T	10: 12,351,018 (GRCm39)	I355N	probably damaging	Het
Vangl1	A	G	3: 102,070,782 (GRCm39)	S385P	probably benign	Het
Vmn1r209	A	G	13: 22,990,409 (GRCm39)	S94P	possibly damaging	Het
Vmn2r28	T	A	7: 5,496,810 (GRCm39)	Q14L	probably benign	Het
Vps45	A	G	3: 95,954,557 (GRCm39)		probably null	Het
Wdr48	T	C	9: 119,733,396 (GRCm39)	V81A	probably benign	Het
Xpnpep2	A	G	X: 47,214,230 (GRCm39)	N476S	probably benign	Het
Zbtb41	A	T	1: 139,374,660 (GRCm39)	K707*	probably null	Het
Zfp442	A	C	2: 150,250,983 (GRCm39)	C306W	probably damaging	Het
Zfp811	T	C	17: 33,017,116 (GRCm39)	N307S	possibly damaging	Het
Zfp976	A	G	7: 42,265,735 (GRCm39)	W17R	probably damaging	Het
Zyg11b	T	C	4: 108,123,290 (GRCm39)	T226A	possibly damaging	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
IGL01631:Apip	APN	2	102,904,194 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTGCTAACGTGGGAAACAAAC -3'
(R):5'- ACCTTCTGCTCAGTTGATGG -3'

Sequencing Primer
(F):5'- TGCTAACGTGGGAAACAAACATAAAC -3'
(R):5'- CCTTCTGCTCAGTTGATGGGAGAG -3'

Posted On

2014-06-23