Mutagenetix > Incidental Mutation

Incidental Mutation 'R1530:Hip1'

166542

Institutional Source

Beutler Lab

Gene Symbol

Hip1

Ensembl Gene

ENSMUSG00000039959

Gene Name

huntingtin interacting protein 1

Synonyms

A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1

MMRRC Submission

039569-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.795) question?

Stock #

R1530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135435385-135573974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135473634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 253 (D253G)

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: D253G

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

SMART Domains

Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: D253G

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: ENSMUST00000200808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200898

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

noncoding transcript
Transcript: ENSMUST00000202236

Predicted Effect

probably damaging
Transcript: ENSMUST00000212301
AA Change: D228G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,567,640 (GRCm39)	C425R	probably damaging	Het
Adam15	A	G	3: 89,257,137 (GRCm39)	S20P	probably damaging	Het
Adgra3	G	A	5: 50,118,479 (GRCm39)	T1023I	probably benign	Het
Angel2	T	A	1: 190,671,285 (GRCm39)	V46E	probably damaging	Het
Ankrd13c	T	A	3: 157,697,358 (GRCm39)	M321K	probably damaging	Het
Atad2b	C	T	12: 4,992,018 (GRCm39)	R206*	probably null	Het
Atp10b	T	A	11: 43,088,351 (GRCm39)	F319Y	probably benign	Het
AW554918	A	G	18: 25,533,161 (GRCm39)	R272G	probably damaging	Het
Bpi	T	A	2: 158,103,065 (GRCm39)	I70N	probably damaging	Het
Brca1	T	C	11: 101,415,521 (GRCm39)	D871G	probably damaging	Het
Capn3	G	A	2: 120,312,689 (GRCm39)	A160T	probably damaging	Het
Cenpe	T	C	3: 134,952,663 (GRCm39)	L1451P	possibly damaging	Het
Chmp7	A	G	14: 69,969,937 (GRCm39)	M1T	probably null	Het
Csrnp1	G	C	9: 119,802,612 (GRCm39)	Q200E	possibly damaging	Het
Dscam	G	A	16: 96,621,074 (GRCm39)	P545S	probably damaging	Het
Erap1	A	G	13: 74,794,662 (GRCm39)	E107G	probably benign	Het
Errfi1	A	G	4: 150,949,843 (GRCm39)	I49V	probably benign	Het
Fam171b	T	C	2: 83,710,533 (GRCm39)	L735S	probably damaging	Het
Fancm	T	A	12: 65,139,264 (GRCm39)		probably null	Het
Fbp2	G	C	13: 62,984,973 (GRCm39)	P316R	probably damaging	Het
Fcer2a	C	A	8: 3,732,976 (GRCm39)	G255V	probably damaging	Het
Fhip2a	T	A	19: 57,374,737 (GRCm39)	I704N	probably damaging	Het
Fzd2	T	C	11: 102,496,134 (GRCm39)	S193P	probably benign	Het
Gak	A	G	5: 108,772,059 (GRCm39)	V86A	probably damaging	Het
Gas2l3	A	G	10: 89,269,631 (GRCm39)	I7T	probably benign	Het
Gbp11	T	C	5: 105,475,355 (GRCm39)	H331R	probably damaging	Het
Gpr19	C	T	6: 134,846,961 (GRCm39)	V241M	probably damaging	Het
Grk6	G	A	13: 55,606,612 (GRCm39)	A437T	probably damaging	Het
Ifna9	G	C	4: 88,510,409 (GRCm39)	Q72E	possibly damaging	Het
Il1r1	A	G	1: 40,351,521 (GRCm39)	T384A	probably benign	Het
Ip6k1	C	A	9: 107,922,761 (GRCm39)	C221*	probably null	Het
Kcna1	C	A	6: 126,619,494 (GRCm39)	E275D	probably benign	Het
Kcnt2	C	T	1: 140,411,970 (GRCm39)	Q468*	probably null	Het
Kin	T	C	2: 10,097,150 (GRCm39)	V333A	probably damaging	Het
Leprot	G	T	4: 101,513,484 (GRCm39)	V91L	probably benign	Het
Mettl21c	A	G	1: 44,056,344 (GRCm39)		probably null	Het
Myom2	T	C	8: 15,172,384 (GRCm39)	F1161S	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nipal2	A	T	15: 34,625,168 (GRCm39)	*72K	probably null	Het
Nol3	T	C	8: 106,005,858 (GRCm39)	V84A	probably benign	Het
Or2y16	C	T	11: 49,334,732 (GRCm39)	S18L	probably benign	Het
Or4c101	A	T	2: 88,389,827 (GRCm39)	I5F	probably benign	Het
Or8b42	T	C	9: 38,341,620 (GRCm39)	I14T	probably damaging	Het
Pcare	A	G	17: 72,056,473 (GRCm39)	V1068A	probably benign	Het
Pdgfra	T	A	5: 75,349,671 (GRCm39)		probably null	Het
Pik3cb	T	C	9: 98,936,026 (GRCm39)	D802G	probably damaging	Het
Plac8l1	A	T	18: 42,311,996 (GRCm39)	V141E	probably damaging	Het
Plxnb2	A	G	15: 89,051,395 (GRCm39)	S275P	probably benign	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Rapgef6	T	A	11: 54,552,009 (GRCm39)	I959K	probably damaging	Het
Scn5a	T	C	9: 119,324,628 (GRCm39)	K1400R	probably damaging	Het
Sel1l	A	G	12: 91,793,458 (GRCm39)	S263P	probably damaging	Het
Setd5	G	A	6: 113,086,874 (GRCm39)	V34I	probably damaging	Het
Slc34a1	A	G	13: 24,003,052 (GRCm39)	D234G	probably damaging	Het
Spink5	T	A	18: 44,148,738 (GRCm39)	S934T	probably damaging	Het
St18	A	C	1: 6,915,793 (GRCm39)		probably null	Het
St3gal4	T	C	9: 34,963,592 (GRCm39)	I239V	probably benign	Het
Stag3	C	T	5: 138,295,674 (GRCm39)	T399I	probably damaging	Het
Syt11	T	C	3: 88,669,674 (GRCm39)	K6E	probably damaging	Het
Taf15	T	C	11: 83,378,122 (GRCm39)	Y121H	possibly damaging	Het
Tdh	T	C	14: 63,733,504 (GRCm39)	Y113C	probably damaging	Het
Tgfbr1	T	A	4: 47,410,688 (GRCm39)	W406R	probably damaging	Het
Tgm6	A	G	2: 129,993,202 (GRCm39)	I563V	possibly damaging	Het
Tmem131	A	G	1: 36,866,090 (GRCm39)		probably null	Het
Tmub2	T	C	11: 102,178,312 (GRCm39)	S72P	probably benign	Het
Trappc13	G	A	13: 104,286,651 (GRCm39)	T202I	probably damaging	Het
Trim9	T	C	12: 70,319,202 (GRCm39)	E449G	probably damaging	Het
Trip11	C	A	12: 101,879,026 (GRCm39)	G21V	unknown	Het
Ttll12	G	A	15: 83,472,856 (GRCm39)	R127C	probably damaging	Het
Vmn2r125	A	T	4: 156,703,447 (GRCm39)	Y275F	probably damaging	Het
Xrcc5	A	G	1: 72,369,103 (GRCm39)	D319G	probably damaging	Het
Zc3h14	T	G	12: 98,751,262 (GRCm39)	C159W	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfhx3	C	T	8: 109,675,121 (GRCm39)	P2057L	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
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
R9262:Hip1	UTSW	5	135,478,541 (GRCm39)	missense	probably damaging	1.00
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'- TGTGGGGTTGTGTCCACAGAGAG -3'
(R):5'- TTCATGCAAGGCTTCCTTAGTTACCAAA -3'

Sequencing Primer
(F):5'- ttttcttcctctcactctccac -3'
(R):5'- TTAGTTACCAAACCTGGGGC -3'

Posted On

2014-04-13