Mutagenetix > Incidental Mutation

Incidental Mutation 'R7677:Hip1'

592499

Institutional Source

Beutler Lab

Gene Symbol

Hip1

Ensembl Gene

ENSMUSG00000039959

Gene Name

huntingtin interacting protein 1

Synonyms

A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R7677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135435385-135573974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135459171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 605 (C605R)

Ref Sequence

ENSEMBL: ENSMUSP00000059033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060311] [ENSMUST00000202643]

AlphaFold

Q8VD75

Predicted Effect

probably benign
Transcript: ENSMUST00000060311
AA Change: C605R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: C605R

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

probably benign
Transcript: ENSMUST00000202643
AA Change: C194R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959
AA Change: C194R

Domain	Start	End	E-Value	Type
PDB:2QA7\|D	1	70	9e-34	PDB
Pfam:HIP1_clath_bdg	71	161	4.4e-24	PFAM
low complexity region	238	247	N/A	INTRINSIC
low complexity region	369	385	N/A	INTRINSIC
ILWEQ	395	593	5.7e-122	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,349 (GRCm39)	R2699*	probably null	Het
Adra2a	G	A	19: 54,035,375 (GRCm39)	V244M	probably damaging	Het
Apba2	A	G	7: 64,344,845 (GRCm39)	S12G	probably benign	Het
Arhgap20	T	A	9: 51,751,698 (GRCm39)	M383K	probably damaging	Het
Armc12	T	C	17: 28,756,865 (GRCm39)	V210A	probably benign	Het
Ash1l	A	T	3: 88,950,500 (GRCm39)	H2131L	probably damaging	Het
Atg5	T	C	10: 44,223,035 (GRCm39)	L219P	probably damaging	Het
Atp2c2	A	T	8: 120,474,915 (GRCm39)	M507L	probably benign	Het
Atr	T	A	9: 95,767,515 (GRCm39)	L1191I	probably damaging	Het
B4galt5	T	C	2: 167,146,998 (GRCm39)	T279A	probably damaging	Het
Bglap2	T	C	3: 88,285,280 (GRCm39)	E62G	probably damaging	Het
Card6	A	G	15: 5,127,926 (GRCm39)	S1157P	unknown	Het
Ccdc17	T	C	4: 116,454,962 (GRCm39)		probably null	Het
Cdc6	T	A	11: 98,810,191 (GRCm39)	L500*	probably null	Het
Dst	G	T	1: 34,208,403 (GRCm39)		probably null	Het
Fbxw7	C	T	3: 84,811,373 (GRCm39)	T166I		Het
Fer1l6	T	C	15: 58,474,139 (GRCm39)	V955A	probably benign	Het
Fezf2	T	C	14: 12,344,941 (GRCm38)	E82G	probably benign	Het
Flii	T	C	11: 60,610,971 (GRCm39)	D486G	probably damaging	Het
Fndc3a	T	C	14: 72,804,854 (GRCm39)	T476A	probably benign	Het
Gbp3	C	T	3: 142,266,264 (GRCm39)		probably benign	Het
Hebp2	T	C	10: 18,421,547 (GRCm39)		probably benign	Het
Hhipl2	T	A	1: 183,204,951 (GRCm39)	M88K	possibly damaging	Het
Hoxd13	T	C	2: 74,498,909 (GRCm39)	S86P	probably benign	Het
Hspa12a	G	T	19: 58,849,317 (GRCm39)	A2E	probably benign	Het
Il1rl1	A	C	1: 40,485,864 (GRCm39)	*338C	probably null	Het
Lrrc37a	G	T	11: 103,390,464 (GRCm39)	P1654T	probably benign	Het
Mybpc3	A	T	2: 90,959,376 (GRCm39)	D704V	probably benign	Het
Napsa	A	T	7: 44,231,130 (GRCm39)	K120*	probably null	Het
Nat3	A	C	8: 68,000,139 (GRCm39)	Y6S	probably damaging	Het
Negr1	C	T	3: 156,774,823 (GRCm39)	Q180*	probably null	Het
Nynrin	T	A	14: 56,107,693 (GRCm39)	D933E	probably benign	Het
Or10al3	T	A	17: 38,011,957 (GRCm39)	I132K	probably damaging	Het
Or10c1	A	T	17: 37,522,386 (GRCm39)	Y119*	probably null	Het
Or2l5	G	A	16: 19,333,678 (GRCm39)	A236V	probably benign	Het
Or6k2	A	T	1: 173,986,614 (GRCm39)	I92F	probably damaging	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Or8c16	T	A	9: 38,130,324 (GRCm39)	N65K	probably damaging	Het
Or9s23	C	T	1: 92,500,983 (GRCm39)	T30I	not run	Het
Pbx1	A	T	1: 168,030,995 (GRCm39)	F208I	probably damaging	Het
Pcdha11	T	C	18: 37,144,605 (GRCm39)	V232A	probably damaging	Het
Pcsk5	A	G	19: 17,558,593 (GRCm39)	Y605H	possibly damaging	Het
Pde3a	T	A	6: 141,195,983 (GRCm39)	L223Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm2	G	A	5: 124,261,632 (GRCm39)	R977C	probably damaging	Het
Pkdrej	A	C	15: 85,699,788 (GRCm39)	D2049E	probably benign	Het
Psmd6	T	C	14: 14,120,837 (GRCm38)	D16G	probably benign	Het
Pth2r	C	A	1: 65,427,605 (GRCm39)	T426N	probably benign	Het
Ralgapa1	G	T	12: 55,705,928 (GRCm39)	L1865M	probably damaging	Het
Ryr3	T	A	2: 112,664,245 (GRCm39)	Q1702L	probably benign	Het
Sars2	A	G	7: 28,446,176 (GRCm39)	Y135C	probably benign	Het
Sdha	G	A	13: 74,481,172 (GRCm39)	R345*	probably null	Het
Selp	A	T	1: 163,961,525 (GRCm39)	S413C	probably damaging	Het
Sirt2	G	A	7: 28,484,835 (GRCm39)	C221Y	probably damaging	Het
Skic2	A	T	17: 35,067,140 (GRCm39)	S100T	probably benign	Het
Socs7	C	A	11: 97,280,468 (GRCm39)	Q566K	probably benign	Het
Spdye4c	G	A	2: 128,436,056 (GRCm39)	V151M	probably benign	Het
Srcap	A	G	7: 127,158,980 (GRCm39)	D2952G	unknown	Het
Srd5a2	A	T	17: 74,354,749 (GRCm39)	L25Q	probably damaging	Het
Srrt	A	T	5: 137,298,410 (GRCm39)	V254D	probably damaging	Het
Tap2	T	C	17: 34,424,494 (GRCm39)	F76L	probably benign	Het
Tdpoz4	T	A	3: 93,704,815 (GRCm39)	*371R	probably null	Het
Tm9sf3	A	T	19: 41,209,743 (GRCm39)	F441I	probably damaging	Het
Tmem259	C	T	10: 79,814,414 (GRCm39)	R314Q	probably damaging	Het
Trim28	G	T	7: 12,762,040 (GRCm39)	R312L	possibly damaging	Het
Tsc1	A	G	2: 28,562,829 (GRCm39)	T393A	probably benign	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube2v2	T	C	16: 15,398,964 (GRCm39)	T42A	probably benign	Het
Vmn2r-ps158	A	C	7: 42,674,163 (GRCm39)	H414P	probably damaging	Het
Zfp609	A	T	9: 65,604,456 (GRCm39)	S1342R	possibly damaging	Het
Zg16	A	T	7: 126,649,763 (GRCm39)	V66E	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
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'- CACCAATTGGAAGTACAGGGCC -3'
(R):5'- ATCAAGAGGACACCTGGTTGTG -3'

Sequencing Primer
(F):5'- AGTACAGGGCCCAGCAG -3'
(R):5'- ACACCTGGTTGTGGAAGTG -3'

Posted On

2019-11-12