Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01771:Hip1r'

153842

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hip1r

Ensembl Gene

ENSMUSG00000000915

Gene Name

huntingtin interacting protein 1 related

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01771

Quality Score

Status

Chromosome

Chromosomal Location

124111665-124141278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124137606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 704 (V704D)

Ref Sequence

ENSEMBL: ENSMUSP00000000939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000939]

AlphaFold

Q9JKY5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000939
AA Change: V704D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: V704D

Domain	Start	End	E-Value	Type
ENTH	29	151	5.27e-40	SMART
low complexity region	301	321	N/A	INTRINSIC
PDB:3I00\|B	340	458	1e-21	PDB
Pfam:HIP1_clath_bdg	461	559	1.1e-34	PFAM
low complexity region	627	633	N/A	INTRINSIC
ILWEQ	814	1012	9.19e-121	SMART
low complexity region	1016	1035	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166258

SMART Domains

Protein: ENSMUSP00000130766
Gene: ENSMUSG00000000915

Domain	Start	End	E-Value	Type
Pfam:ANTH	1	79	3.5e-19	PFAM
low complexity region	80	100	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185154

Predicted Effect

probably benign
Transcript: ENSMUST00000198664

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn10	T	A	1: 92,868,087 (GRCm39)	W185R	probably damaging	Het
Frmd8	A	G	19: 5,919,603 (GRCm39)	L148P	probably damaging	Het
Gk5	T	C	9: 96,059,488 (GRCm39)	C447R	probably damaging	Het
Kcnj10	C	A	1: 172,197,150 (GRCm39)	H221Q	probably benign	Het
Klk1b8	A	T	7: 43,604,290 (GRCm39)	I253L	probably damaging	Het
Or10aa4-ps1	T	C	1: 173,878,887 (GRCm39)		probably benign	Het
Or1ad8	A	G	11: 50,898,593 (GRCm39)	T265A	probably benign	Het
Or1e29	A	T	11: 73,667,490 (GRCm39)	I221N	probably damaging	Het
Or5ac22	T	C	16: 59,134,891 (GRCm39)	N293S	probably damaging	Het
Or8k40	C	T	2: 86,584,626 (GRCm39)	C152Y	probably benign	Het
Pdp2	A	T	8: 105,320,754 (GRCm39)	Y201F	probably benign	Het
Ppfia1	A	T	7: 144,036,094 (GRCm39)	I1112K	probably benign	Het
Ppwd1	A	G	13: 104,353,624 (GRCm39)	I378T	probably damaging	Het
Rhbdd1	T	A	1: 82,355,313 (GRCm39)	D248E	probably benign	Het
Sec14l5	T	C	16: 4,996,494 (GRCm39)		probably null	Het
Sel1l3	T	G	5: 53,279,183 (GRCm39)	D960A	probably damaging	Het
Slc35f3	T	C	8: 127,115,951 (GRCm39)	Y293H	probably benign	Het
Wwc1	A	G	11: 35,744,185 (GRCm39)		probably null	Het
Zan	T	C	5: 137,391,330 (GRCm39)	N4718S	unknown	Het
Zfyve16	T	C	13: 92,658,680 (GRCm39)	I410M	probably benign	Het

Other mutations in Hip1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hip1r	APN	5	124,127,798 (GRCm39)	critical splice donor site	probably null
IGL01804:Hip1r	APN	5	124,139,613 (GRCm39)	critical splice donor site	probably null
IGL02100:Hip1r	APN	5	124,137,006 (GRCm39)	unclassified	probably benign
IGL02139:Hip1r	APN	5	124,134,307 (GRCm39)	missense	probably damaging	1.00
IGL02321:Hip1r	APN	5	124,137,953 (GRCm39)	missense	probably damaging	0.99
IGL02562:Hip1r	APN	5	124,129,586 (GRCm39)	unclassified	probably benign
IGL02745:Hip1r	APN	5	124,129,002 (GRCm39)	splice site	probably null
IGL02798:Hip1r	APN	5	124,132,775 (GRCm39)	unclassified	probably benign
IGL03365:Hip1r	APN	5	124,138,230 (GRCm39)	missense	probably damaging	1.00
R0172:Hip1r	UTSW	5	124,135,003 (GRCm39)	missense	possibly damaging	0.47
R0546:Hip1r	UTSW	5	124,137,114 (GRCm39)	missense	possibly damaging	0.89
R0799:Hip1r	UTSW	5	124,135,004 (GRCm39)	missense	probably benign	0.00
R1588:Hip1r	UTSW	5	124,134,638 (GRCm39)	missense	probably damaging	0.98
R1590:Hip1r	UTSW	5	124,140,203 (GRCm39)	missense	probably benign	0.00
R1675:Hip1r	UTSW	5	124,132,883 (GRCm39)	missense	probably damaging	1.00
R1801:Hip1r	UTSW	5	124,136,871 (GRCm39)	missense	probably benign
R1818:Hip1r	UTSW	5	124,134,018 (GRCm39)	critical splice donor site	probably null
R1852:Hip1r	UTSW	5	124,129,568 (GRCm39)	missense	probably benign	0.10
R1936:Hip1r	UTSW	5	124,134,134 (GRCm39)	missense	probably damaging	1.00
R1954:Hip1r	UTSW	5	124,139,907 (GRCm39)	missense	probably damaging	0.96
R1989:Hip1r	UTSW	5	124,127,761 (GRCm39)	missense	probably damaging	1.00
R2045:Hip1r	UTSW	5	124,138,794 (GRCm39)	missense	probably benign
R2105:Hip1r	UTSW	5	124,138,267 (GRCm39)	missense	probably damaging	0.96
R2414:Hip1r	UTSW	5	124,139,306 (GRCm39)	missense	probably damaging	1.00
R2909:Hip1r	UTSW	5	124,138,656 (GRCm39)	splice site	probably null
R3125:Hip1r	UTSW	5	124,138,204 (GRCm39)	missense	probably benign	0.20
R3401:Hip1r	UTSW	5	124,135,046 (GRCm39)	missense	probably damaging	1.00
R3402:Hip1r	UTSW	5	124,135,046 (GRCm39)	missense	probably damaging	1.00
R3889:Hip1r	UTSW	5	124,139,854 (GRCm39)	nonsense	probably null
R4212:Hip1r	UTSW	5	124,137,953 (GRCm39)	missense	probably benign	0.06
R4421:Hip1r	UTSW	5	124,135,925 (GRCm39)	missense	possibly damaging	0.66
R4422:Hip1r	UTSW	5	124,135,069 (GRCm39)	missense	possibly damaging	0.93
R4713:Hip1r	UTSW	5	124,128,043 (GRCm39)	missense	probably benign	0.02
R6837:Hip1r	UTSW	5	124,136,928 (GRCm39)	missense	possibly damaging	0.63
R7171:Hip1r	UTSW	5	124,134,007 (GRCm39)	missense	probably benign	0.02
R7212:Hip1r	UTSW	5	124,111,845 (GRCm39)	missense	possibly damaging	0.91
R7251:Hip1r	UTSW	5	124,132,813 (GRCm39)	missense	probably damaging	1.00
R7319:Hip1r	UTSW	5	124,137,174 (GRCm39)	missense	probably damaging	1.00
R7432:Hip1r	UTSW	5	124,129,829 (GRCm39)	missense	probably benign	0.05
R7592:Hip1r	UTSW	5	124,136,036 (GRCm39)	missense	probably benign	0.21
R7708:Hip1r	UTSW	5	124,135,532 (GRCm39)	missense	possibly damaging	0.82
R7773:Hip1r	UTSW	5	124,139,504 (GRCm39)	missense	probably benign	0.00
R8132:Hip1r	UTSW	5	124,135,290 (GRCm39)	missense	probably damaging	1.00
R8804:Hip1r	UTSW	5	124,139,575 (GRCm39)	missense	possibly damaging	0.70
R8882:Hip1r	UTSW	5	124,140,025 (GRCm39)	missense	probably damaging	1.00
R9643:Hip1r	UTSW	5	124,139,319 (GRCm39)	missense	probably damaging	1.00
R9650:Hip1r	UTSW	5	124,135,357 (GRCm39)	critical splice donor site	probably null
R9695:Hip1r	UTSW	5	124,139,916 (GRCm39)	missense	possibly damaging	0.95
Z1088:Hip1r	UTSW	5	124,137,195 (GRCm39)	splice site	probably null
Z1176:Hip1r	UTSW	5	124,135,073 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04