Mutagenetix > Incidental Mutation

Incidental Mutation 'R9262:Hip1'

702308

Institutional Source

Beutler Lab

Gene Symbol

Hip1

Ensembl Gene

ENSMUSG00000039959

Gene Name

huntingtin interacting protein 1

Synonyms

A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R9262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135435385-135573974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135478541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 248 (S248P)

Ref Sequence

ENSEMBL: ENSMUSP00000059033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060311] [ENSMUST00000201998] [ENSMUST00000212301]

AlphaFold

Q8VD75

Predicted Effect

probably damaging
Transcript: ENSMUST00000060311
AA Change: S248P

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

SMART Domains

Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: S248P

Domain	Start	End	E-Value	Type
ENTH	38	160	9.98e-41	SMART
PDB:3I00\|B	361	480	9e-57	PDB
Pfam:HIP1_clath_bdg	482	572	2.1e-27	PFAM
low complexity region	649	658	N/A	INTRINSIC
low complexity region	780	796	N/A	INTRINSIC
ILWEQ	806	1004	9.05e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201998

SMART Domains

Protein: ENSMUSP00000144392
Gene: ENSMUSG00000039959

Domain	Start	End	E-Value	Type
ENTH	4	126	4.8e-42	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000212301
AA Change: S223P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutants may exhibit axial skeleton defects, hematopotietic abnormalities, and testicular degeneration with increased apoptosis of postmeiotic spermatids. One line showed microphthalmia and cataracts, whereas others did not. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,443,375 (GRCm39)	H192L	unknown	Het
Abca4	T	A	3: 121,964,639 (GRCm39)	C2149S	probably damaging	Het
Abl2	G	A	1: 156,469,820 (GRCm39)	G1028D	possibly damaging	Het
Adgre1	A	G	17: 57,754,941 (GRCm39)	T680A	probably damaging	Het
Amn	G	A	12: 111,237,585 (GRCm39)	W10*	probably null	Het
Ankhd1	G	T	18: 36,765,799 (GRCm39)	V140F		Het
Asnsd1	A	T	1: 53,383,934 (GRCm39)	N613K	probably benign	Het
Bbs2	A	T	8: 94,807,543 (GRCm39)	I417N	probably damaging	Het
Cad	T	A	5: 31,225,009 (GRCm39)	W971R	probably null	Het
Cand2	A	T	6: 115,759,730 (GRCm39)	I134F	probably benign	Het
Ccdc154	C	A	17: 25,389,160 (GRCm39)	H453N	probably damaging	Het
Ccdc168	A	G	1: 44,096,269 (GRCm39)	S1610P	possibly damaging	Het
Ccdc7a	T	A	8: 129,486,277 (GRCm39)	H1601L	possibly damaging	Het
Ccdc9	A	C	7: 16,012,400 (GRCm39)	S261A	probably benign	Het
Cdkl3	T	A	11: 51,916,702 (GRCm39)	S277T	probably benign	Het
Cipc	T	A	12: 86,999,497 (GRCm39)	Y8*	probably null	Het
Cramp1	A	G	17: 25,232,920 (GRCm39)	S27P	probably damaging	Het
Csf1r	A	T	18: 61,243,406 (GRCm39)	M141L	probably benign	Het
Csf2rb2	G	T	15: 78,168,535 (GRCm39)	F873L	probably damaging	Het
Dchs1	G	A	7: 105,404,833 (GRCm39)	R2570W	probably damaging	Het
Dmxl1	A	T	18: 49,976,919 (GRCm39)	N94Y	probably benign	Het
Dnajc10	A	G	2: 80,176,965 (GRCm39)	K640R	probably benign	Het
Epha8	A	C	4: 136,658,995 (GRCm39)	H886Q	probably benign	Het
Fcgbp	G	C	7: 27,819,952 (GRCm39)	D2560H	probably damaging	Het
Fry	T	G	5: 150,305,109 (GRCm39)	F605V	probably damaging	Het
Fsip2	A	G	2: 82,807,662 (GRCm39)	N1327S	probably benign	Het
Gm12117	T	C	11: 33,226,001 (GRCm39)	T112A	probably benign	Het
Gm3604	A	T	13: 62,517,697 (GRCm39)	N220K	probably damaging	Het
Gm572	T	C	4: 148,735,652 (GRCm39)	V27A	probably benign	Het
Gpr39	A	G	1: 125,800,524 (GRCm39)	K425R	probably benign	Het
Heatr3	A	G	8: 88,883,097 (GRCm39)	D349G	probably benign	Het
Itga11	A	G	9: 62,659,678 (GRCm39)		probably benign	Het
Itga3	C	T	11: 94,956,625 (GRCm39)	V210I	probably benign	Het
Jmjd1c	T	C	10: 67,083,793 (GRCm39)	I2173T	probably benign	Het
Klf13	G	A	7: 63,574,456 (GRCm39)	Q21*	probably null	Het
Kmt2a	A	T	9: 44,731,222 (GRCm39)	S3032T	probably benign	Het
Krt34	T	C	11: 99,930,851 (GRCm39)	R184G	probably benign	Het
Krtap16-1	T	C	11: 99,876,994 (GRCm39)	T137A	probably benign	Het
Ldc1	A	G	4: 130,114,153 (GRCm39)	V88A	possibly damaging	Het
Mgam	T	C	6: 40,723,422 (GRCm39)		probably null	Het
Mog	T	C	17: 37,325,648 (GRCm39)	T196A	possibly damaging	Het
Ms4a6d	T	C	19: 11,579,216 (GRCm39)	Y87C	possibly damaging	Het
Ndrg4	C	T	8: 96,435,812 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,394,871 (GRCm39)	M927K	possibly damaging	Het
Or11l3	T	A	11: 58,516,282 (GRCm39)	M197L	probably benign	Het
Or4a73	G	T	2: 89,421,435 (GRCm39)	T8K	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcdhac2	A	G	18: 37,279,095 (GRCm39)	R692G	possibly damaging	Het
Pcsk4	T	A	10: 80,160,864 (GRCm39)	S321C	probably damaging	Het
Pi4ka	A	G	16: 17,120,859 (GRCm39)	F1292L		Het
Pigv	G	T	4: 133,397,110 (GRCm39)	P6Q	possibly damaging	Het
Pkhd1	A	C	1: 20,618,351 (GRCm39)	S927A	probably benign	Het
Pnpla3	A	T	15: 84,055,363 (GRCm39)	I90F	probably benign	Het
Pole	C	A	5: 110,473,422 (GRCm39)	L1739I	probably damaging	Het
Pole	T	A	5: 110,473,423 (GRCm39)	L1739H	probably damaging	Het
Rbm12	A	T	2: 155,939,317 (GRCm39)	N318K	possibly damaging	Het
Rpl18a	A	T	8: 71,348,179 (GRCm39)	L168Q	probably benign	Het
Ryr2	T	C	13: 11,765,854 (GRCm39)	N1294S	probably damaging	Het
Sema5b	T	C	16: 35,453,223 (GRCm39)	L98P	possibly damaging	Het
Slco1a8	G	T	6: 141,926,594 (GRCm39)	F597L	probably damaging	Het
Smg7	A	G	1: 152,721,262 (GRCm39)	V650A	probably damaging	Het
Spata31d1e	T	C	13: 59,890,402 (GRCm39)	M473V	probably benign	Het
Strada	C	T	11: 106,075,444 (GRCm39)	R13Q	probably damaging	Het
Sun1	T	C	5: 139,200,918 (GRCm39)	S37P	unknown	Het
Syce1l	T	C	8: 114,380,738 (GRCm39)		probably null	Het
Tdg	T	A	10: 82,480,507 (GRCm39)	F263L	probably damaging	Het
Tead3	G	T	17: 28,560,495 (GRCm39)	S36R	probably benign	Het
Timm44	A	G	8: 4,310,621 (GRCm39)	L377P	probably damaging	Het
Tk1	C	T	11: 117,716,581 (GRCm39)	V9M	probably benign	Het
Trim36	A	G	18: 46,300,506 (GRCm39)	Y722H	probably benign	Het
Ttn	A	T	2: 76,640,232 (GRCm39)	M13792K	possibly damaging	Het
Unc80	A	G	1: 66,594,411 (GRCm39)		probably benign	Het
Usp46	G	T	5: 74,189,965 (GRCm39)	A133E	probably benign	Het
Wnk2	T	A	13: 49,221,430 (GRCm39)	R1240S	probably benign	Het
Zfp821	G	A	8: 110,450,982 (GRCm39)	R325Q	probably damaging	Het

Other mutations in Hip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Hip1	APN	5	135,478,676 (GRCm39)	missense	probably damaging	1.00
IGL00418:Hip1	APN	5	135,455,200 (GRCm39)	missense	probably damaging	1.00
IGL01744:Hip1	APN	5	135,573,917 (GRCm39)	utr 5 prime	probably benign
IGL02494:Hip1	APN	5	135,473,645 (GRCm39)	nonsense	probably null
IGL02749:Hip1	APN	5	135,473,605 (GRCm39)	missense	probably benign	0.00
IGL03219:Hip1	APN	5	135,485,904 (GRCm39)	missense	probably benign	0.16
IGL03328:Hip1	APN	5	135,453,728 (GRCm39)	missense	probably damaging	1.00
BB010:Hip1	UTSW	5	135,489,310 (GRCm39)	missense	probably damaging	0.98
BB020:Hip1	UTSW	5	135,489,310 (GRCm39)	missense	probably damaging	0.98
R0100:Hip1	UTSW	5	135,465,307 (GRCm39)	missense	probably benign
R0100:Hip1	UTSW	5	135,465,307 (GRCm39)	missense	probably benign
R0336:Hip1	UTSW	5	135,457,467 (GRCm39)	missense	probably benign	0.39
R0410:Hip1	UTSW	5	135,487,009 (GRCm39)	missense	probably damaging	1.00
R1454:Hip1	UTSW	5	135,467,486 (GRCm39)	missense	probably benign
R1530:Hip1	UTSW	5	135,473,634 (GRCm39)	missense	probably damaging	1.00
R1848:Hip1	UTSW	5	135,463,995 (GRCm39)	splice site	probably null
R2201:Hip1	UTSW	5	135,460,584 (GRCm39)	missense	probably benign
R2246:Hip1	UTSW	5	135,481,698 (GRCm39)	missense	probably damaging	1.00
R2276:Hip1	UTSW	5	135,485,900 (GRCm39)	missense	probably damaging	1.00
R2353:Hip1	UTSW	5	135,441,566 (GRCm39)	missense	probably damaging	1.00
R3013:Hip1	UTSW	5	135,463,893 (GRCm39)	missense	possibly damaging	0.91
R3413:Hip1	UTSW	5	135,451,026 (GRCm39)	missense	probably damaging	1.00
R3939:Hip1	UTSW	5	135,457,618 (GRCm39)	missense	probably benign	0.14
R4153:Hip1	UTSW	5	135,441,560 (GRCm39)	missense	probably damaging	1.00
R4839:Hip1	UTSW	5	135,455,172 (GRCm39)	splice site	probably null
R5059:Hip1	UTSW	5	135,478,675 (GRCm39)	missense	probably damaging	1.00
R5171:Hip1	UTSW	5	135,469,156 (GRCm39)	missense	probably damaging	1.00
R5189:Hip1	UTSW	5	135,463,147 (GRCm39)	missense	probably damaging	1.00
R5358:Hip1	UTSW	5	135,465,252 (GRCm39)	missense	probably benign	0.22
R5642:Hip1	UTSW	5	135,461,939 (GRCm39)	nonsense	probably null
R5646:Hip1	UTSW	5	135,457,595 (GRCm39)	missense	probably damaging	0.98
R5831:Hip1	UTSW	5	135,440,117 (GRCm39)	missense	probably benign	0.00
R5908:Hip1	UTSW	5	135,453,717 (GRCm39)	critical splice donor site	probably null
R6484:Hip1	UTSW	5	135,468,983 (GRCm39)	missense	probably damaging	1.00
R6535:Hip1	UTSW	5	135,457,351 (GRCm39)	splice site	probably null
R6557:Hip1	UTSW	5	135,457,573 (GRCm39)	missense	possibly damaging	0.67
R7459:Hip1	UTSW	5	135,443,151 (GRCm39)	missense	probably damaging	1.00
R7589:Hip1	UTSW	5	135,443,165 (GRCm39)	missense	probably benign
R7677:Hip1	UTSW	5	135,459,171 (GRCm39)	missense	probably benign
R7933:Hip1	UTSW	5	135,489,310 (GRCm39)	missense	probably damaging	0.98
R8267:Hip1	UTSW	5	135,457,467 (GRCm39)	missense	probably benign	0.39
R8825:Hip1	UTSW	5	135,450,976 (GRCm39)	missense	probably damaging	1.00
R8900:Hip1	UTSW	5	135,459,144 (GRCm39)	missense	probably benign
R8931:Hip1	UTSW	5	135,460,297 (GRCm39)	unclassified	probably benign
R9059:Hip1	UTSW	5	135,457,597 (GRCm39)	missense	probably benign	0.01
R9441:Hip1	UTSW	5	135,460,571 (GRCm39)	missense	possibly damaging	0.47
R9685:Hip1	UTSW	5	135,478,676 (GRCm39)	missense	probably damaging	1.00
Z1177:Hip1	UTSW	5	135,457,460 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTAGACACAGGACTGCAAAG -3'
(R):5'- GTCCTATGGTGGAGATTCCTACC -3'

Sequencing Primer
(F):5'- GGTAATCTAAAGCTTGGGTTGCTCC -3'
(R):5'- ATGGTGGAGATTCCTACCTCACTG -3'

Posted On

2022-03-25