Mutagenetix > Incidental Mutation

Incidental Mutation 'R0102:Phip'

16903

Institutional Source

Beutler Lab

Gene Symbol

Phip

Ensembl Gene

ENSMUSG00000032253

Gene Name

pleckstrin homology domain interacting protein

Synonyms

Wdr11, 2810004D21Rik, 4632404O06Rik, Ndrp

MMRRC Submission

038388-MU

Accession Numbers

Genbank: NM_001081216; MGI: 1932404

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0102 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

82866159-82975516 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 82905792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034787]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000034787

SMART Domains

Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253

Domain	Start	End	E-Value	Type
WD40	172	211	1.5e-8	SMART
WD40	214	253	4.1e-9	SMART
WD40	256	299	3.5e-7	SMART
WD40	310	349	1.4e-1	SMART
WD40	354	393	6.6e-10	SMART
WD40	408	452	1.4e-2	SMART
WD40	455	495	3.4e-10	SMART
WD40	498	542	6.6e-2	SMART
low complexity region	802	813	N/A	INTRINSIC
low complexity region	841	854	N/A	INTRINSIC
low complexity region	865	877	N/A	INTRINSIC
coiled coil region	881	907	N/A	INTRINSIC
low complexity region	928	941	N/A	INTRINSIC
BROMO	1158	1261	3.5e-11	SMART
BROMO	1318	1423	4.1e-30	SMART
low complexity region	1438	1463	N/A	INTRINSIC
low complexity region	1500	1513	N/A	INTRINSIC
low complexity region	1708	1721	N/A	INTRINSIC
low complexity region	1752	1758	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190936

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 88.8%
3x: 85.2%
10x: 73.9%
20x: 53.9%

Validation Efficiency

97% (84/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal and premature lethality associated with reduced body size, small myocardial cells and hepatocytes, hypoglycemia, increased insulin sensitivity, and reduced cell growth. [provided by MGI curators]

Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,113	K1021R	probably damaging	Het
1110008L16Rik	A	G	12: 55,382,297	D535G	probably benign	Het
2610528J11Rik	G	A	4: 118,529,565	V36M	probably damaging	Het
4930402F06Rik	T	A	2: 35,375,783	R292*	probably null	Het
4932415D10Rik	T	A	10: 82,283,556	K4540M	probably damaging	Het
Abcb4	T	C	5: 8,909,194	F207S	probably damaging	Het
Adcy4	A	C	14: 55,771,533	N812K	probably benign	Het
Afap1l2	G	T	19: 56,928,440		probably benign	Het
Arfgef2	A	T	2: 166,845,465	H203L	probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
Bod1l	G	A	5: 41,817,269	P2234L	probably benign	Het
Cfi	A	C	3: 129,848,767	H90P	probably damaging	Het
Cyp2d10	C	T	15: 82,404,593	M229I	probably benign	Het
Dnah5	A	G	15: 28,245,751		probably benign	Het
Dnttip2	G	T	3: 122,275,803	M222I	probably benign	Het
Dync1li2	A	T	8: 104,428,125	Y284N	probably benign	Het
Ebf1	T	C	11: 44,991,455	Y413H	probably benign	Het
Exog	A	G	9: 119,452,253	T186A	possibly damaging	Het
Fam171a2	T	C	11: 102,444,113	N66S	possibly damaging	Het
Gm17434	T	A	5: 23,337,491		noncoding transcript	Het
Gprc5a	A	T	6: 135,079,035	N160I	probably damaging	Het
Haus3	A	G	5: 34,165,914		probably null	Het
Klhl20	A	T	1: 161,090,445	C90*	probably null	Het
Krt84	T	A	15: 101,528,703	I342L	probably damaging	Het
Lifr	G	A	15: 7,178,892	D584N	probably damaging	Het
Lmbrd2	G	A	15: 9,183,952	R551K	probably damaging	Het
Lrtm1	T	A	14: 29,022,227		probably benign	Het
Mat1a	T	A	14: 41,120,230		probably benign	Het
Mest	A	G	6: 30,746,270	I279V	probably damaging	Het
Mroh5	A	T	15: 73,819,350	D155E	probably benign	Het
Naa25	A	G	5: 121,435,569	D787G	possibly damaging	Het
Naaladl1	C	T	19: 6,112,504	P465S	probably damaging	Het
Necab3	G	A	2: 154,545,312	R302C	probably damaging	Het
Nsg1	A	T	5: 38,158,910	D32E	probably damaging	Het
Ntrk2	T	C	13: 58,808,793	V22A	probably benign	Het
Nuggc	A	G	14: 65,613,551	D290G	probably null	Het
Nup205	A	T	6: 35,225,780		probably benign	Het
Olfr1308	G	C	2: 111,960,597	Q159E	probably damaging	Het
Olfr721-ps1	C	T	14: 14,407,876	S218F	probably damaging	Het
Pde4b	T	A	4: 102,590,178	S9T	probably benign	Het
Pitpnm3	C	T	11: 72,056,246	V776M	probably damaging	Het
Pon2	A	G	6: 5,289,091		probably benign	Het
Ppp1r12b	T	A	1: 134,835,899		probably null	Het
Ppp1r15b	A	G	1: 133,133,170	N475S	probably damaging	Het
Prrt3	A	T	6: 113,497,829	L144H	probably damaging	Het
Psmb7	A	G	2: 38,643,365	V50A	possibly damaging	Het
Sacs	T	A	14: 61,204,568	S1354R	probably damaging	Het
Sdcbp2	A	G	2: 151,583,964	T29A	probably benign	Het
Shbg	T	A	11: 69,617,589		probably benign	Het
Shcbp1	A	G	8: 4,744,452	I447T	probably damaging	Het
Tcrg-V4	T	G	13: 19,185,200	F38C	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trappc12	A	T	12: 28,746,752	F260L	probably damaging	Het
Trim10	C	A	17: 36,870,182	H102N	probably damaging	Het
Ube2u	A	G	4: 100,549,925	T215A	possibly damaging	Het
Vcan	T	G	13: 89,703,668	T1058P	probably benign	Het
Vwa3b	A	C	1: 37,135,514	E670A	probably damaging	Het

Other mutations in Phip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Phip	APN	9	82871303	missense	probably damaging	0.99
IGL01510:Phip	APN	9	82913871	missense	probably benign	0.01
IGL01916:Phip	APN	9	82890469	missense	possibly damaging	0.61
IGL02068:Phip	APN	9	82945808	missense	probably damaging	1.00
IGL02089:Phip	APN	9	82871319	missense	probably damaging	1.00
IGL02121:Phip	APN	9	82893370	missense	probably damaging	1.00
IGL02132:Phip	APN	9	82881341	missense	possibly damaging	0.91
IGL02146:Phip	APN	9	82881718	missense	probably benign	0.05
IGL02282:Phip	APN	9	82913690	missense	probably benign	0.09
IGL02341:Phip	APN	9	82932883	missense	probably damaging	1.00
IGL02342:Phip	APN	9	82886692	missense	probably damaging	1.00
IGL02470:Phip	APN	9	82890454	missense	possibly damaging	0.69
IGL02585:Phip	APN	9	82903188	missense	probably benign	0.03
IGL03271:Phip	APN	9	82884824	splice site	probably benign
3-1:Phip	UTSW	9	82886671	missense	probably damaging	1.00
R0102:Phip	UTSW	9	82905792	splice site	probably null
R0137:Phip	UTSW	9	82927191	splice site	probably null
R0268:Phip	UTSW	9	82871288	missense	probably damaging	1.00
R0366:Phip	UTSW	9	82926407	missense	probably damaging	1.00
R0421:Phip	UTSW	9	82926457	missense	probably damaging	1.00
R0481:Phip	UTSW	9	82876716	splice site	probably benign
R0883:Phip	UTSW	9	82876221	missense	probably benign	0.01
R0885:Phip	UTSW	9	82875395	missense	probably benign	0.06
R1300:Phip	UTSW	9	82876747	missense	probably benign	0.00
R1434:Phip	UTSW	9	82959605	missense	probably damaging	0.99
R1448:Phip	UTSW	9	82915423	missense	possibly damaging	0.92
R1588:Phip	UTSW	9	82900828	missense	probably damaging	1.00
R1619:Phip	UTSW	9	82871449	missense	probably benign	0.20
R1658:Phip	UTSW	9	82871498	missense	probably benign
R1688:Phip	UTSW	9	82871657	missense	probably benign
R1773:Phip	UTSW	9	82876189	missense	probably benign
R1865:Phip	UTSW	9	82945792	missense	probably damaging	1.00
R1934:Phip	UTSW	9	82903182	missense	probably benign	0.11
R2070:Phip	UTSW	9	82875299	missense	probably benign
R2096:Phip	UTSW	9	82915339	missense	possibly damaging	0.95
R2097:Phip	UTSW	9	82915339	missense	possibly damaging	0.95
R2099:Phip	UTSW	9	82915339	missense	possibly damaging	0.95
R2192:Phip	UTSW	9	82871815	missense	probably damaging	0.99
R2402:Phip	UTSW	9	82875305	missense	probably benign
R2447:Phip	UTSW	9	82915399	missense	probably damaging	0.99
R2504:Phip	UTSW	9	82915339	missense	possibly damaging	0.95
R2507:Phip	UTSW	9	82915339	missense	possibly damaging	0.95
R2508:Phip	UTSW	9	82915339	missense	possibly damaging	0.95
R3706:Phip	UTSW	9	82900743	missense	probably benign	0.02
R3829:Phip	UTSW	9	82871645	missense	probably benign
R3846:Phip	UTSW	9	82876126	nonsense	probably null
R4301:Phip	UTSW	9	82959713	nonsense	probably null
R4366:Phip	UTSW	9	82900869	intron	probably benign
R4748:Phip	UTSW	9	82908869	missense	probably benign	0.01
R4895:Phip	UTSW	9	82959595	missense	probably benign	0.20
R5001:Phip	UTSW	9	82896019	splice site	probably null
R5094:Phip	UTSW	9	82871844	missense	probably benign
R5181:Phip	UTSW	9	82871190	utr 3 prime	probably benign
R5194:Phip	UTSW	9	82908862	missense	probably benign	0.03
R5291:Phip	UTSW	9	82945883	missense	probably damaging	1.00
R5335:Phip	UTSW	9	82900756	missense	possibly damaging	0.93
R5458:Phip	UTSW	9	82926500	missense	probably benign	0.40
R5704:Phip	UTSW	9	82871355	missense	probably damaging	0.97
R5866:Phip	UTSW	9	82890150	missense	probably benign
R5870:Phip	UTSW	9	82908677	splice site	probably benign
R5890:Phip	UTSW	9	82906952	missense	probably benign	0.00
R6232:Phip	UTSW	9	82903181	missense	probably benign
R6379:Phip	UTSW	9	82913857	missense	probably damaging	0.98
R6653:Phip	UTSW	9	82900741	nonsense	probably null
R7129:Phip	UTSW	9	82877300	missense	probably damaging	0.98
R7290:Phip	UTSW	9	82871293	missense	possibly damaging	0.94
R7598:Phip	UTSW	9	82905658	missense	possibly damaging	0.94
R7632:Phip	UTSW	9	82903190	missense	probably benign
R7752:Phip	UTSW	9	82890150	missense	probably benign
R7827:Phip	UTSW	9	82908833	missense	probably benign
R7901:Phip	UTSW	9	82890150	missense	probably benign
R7960:Phip	UTSW	9	82893348	missense	probably benign	0.00
R8006:Phip	UTSW	9	82890126	missense	possibly damaging	0.93
R8066:Phip	UTSW	9	82875298	missense	probably benign	0.05
R8080:Phip	UTSW	9	82887609	missense	probably damaging	1.00
R8135:Phip	UTSW	9	82930374	missense	probably benign	0.09
R8347:Phip	UTSW	9	82908763	missense	probably benign	0.02
R8459:Phip	UTSW	9	82876053	missense	probably benign
R8705:Phip	UTSW	9	82893559	missense	probably damaging	0.99
R8706:Phip	UTSW	9	82905712	missense	possibly damaging	0.89
R8743:Phip	UTSW	9	82927087	missense	probably benign	0.18
R8801:Phip	UTSW	9	82876252	missense	probably benign	0.22
R8930:Phip	UTSW	9	82906988	missense	possibly damaging	0.67
R8932:Phip	UTSW	9	82906988	missense	possibly damaging	0.67
R8969:Phip	UTSW	9	82926964	intron	probably benign
R9064:Phip	UTSW	9	82871487	missense	probably benign	0.20
R9332:Phip	UTSW	9	82875359	missense	probably damaging	0.98
R9335:Phip	UTSW	9	82932926	missense	probably benign	0.03
R9520:Phip	UTSW	9	82871384	missense	possibly damaging	0.88

Posted On

2013-01-20