Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03365:Hip1r'

420064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hip1r

Ensembl Gene

ENSMUSG00000000915

Gene Name

huntingtin interacting protein 1 related

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

123973628-124005558 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124000167 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 775 (R775W)

Ref Sequence

ENSEMBL: ENSMUSP00000000939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000939] [ENSMUST00000040967]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000939
AA Change: R775W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: R775W

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: ENSMUST00000040967

SMART Domains

Protein: ENSMUSP00000047980
Gene: ENSMUSG00000066278

Domain	Start	End	E-Value	Type
Pfam:Mod_r	11	156	3.9e-40	PFAM
low complexity region	170	188	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC
low complexity region	262	280	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

noncoding transcript
Transcript: ENSMUST00000192309

Predicted Effect

unknown
Transcript: ENSMUST00000198664
AA Change: R50W

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 24,997,811		probably benign	Het
5830411N06Rik	T	A	7: 140,296,769	V691E	probably damaging	Het
Adam6a	T	A	12: 113,544,145	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,431,642	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,583,852	P307S	probably benign	Het
Asxl1	T	A	2: 153,401,754	I1408N	probably damaging	Het
Avil	T	C	10: 127,010,983	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,989,284	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,271,264	V380L	probably benign	Het
Clip1	A	C	5: 123,583,586	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,807,426		probably null	Het
Dock8	C	T	19: 25,099,684	P506L	possibly damaging	Het
Ecsit	A	C	9: 22,076,526	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,494,120	D15E	probably benign	Het
Enpp1	A	G	10: 24,669,025	Y319H	probably damaging	Het
Fam126a	A	T	5: 23,983,160	Y245N	probably benign	Het
Fat3	T	C	9: 15,996,469	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,279,891	L115I	possibly damaging	Het
Lrp12	A	T	15: 39,872,521	S672T	probably benign	Het
Morf4l2	A	G	X: 136,733,715	Y255H	probably benign	Het
Mri1	A	G	8: 84,251,633	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,364,998	M1K	probably null	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Ofd1	C	A	X: 166,392,516	V951F	probably damaging	Het
Olfr1301	G	T	2: 111,754,427	M59I	possibly damaging	Het
Olfr550	G	T	7: 102,578,629	V45F	probably benign	Het
Olfr784	T	A	10: 129,388,239	V202D	possibly damaging	Het
Parp12	G	A	6: 39,102,647	R310W	probably damaging	Het
Pcdh11x	T	A	X: 120,516,238	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993		probably benign	Het
Ptprz1	T	A	6: 23,030,582		probably benign	Het
Qser1	T	A	2: 104,786,999	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,689,675	D59E	probably benign	Het
Rims2	T	C	15: 39,476,541	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,964,252	V263M	possibly damaging	Het
Scfd2	G	T	5: 74,530,935	H229N	possibly damaging	Het
Sspo	T	C	6: 48,459,415	V1233A	possibly damaging	Het
Stam	T	A	2: 14,146,390	Y519*	probably null	Het
Svs1	A	G	6: 48,988,597	D513G	probably damaging	Het
Synj2	A	G	17: 6,019,404	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,435,457	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,768,227		probably benign	Het
Ttc23	G	A	7: 67,662,337		probably benign	Het
Vmn1r90	T	C	7: 14,561,304	I290V	probably damaging	Het
Xirp1	A	C	9: 120,018,539	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,598,774	F430L	possibly damaging	Het

Other mutations in Hip1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hip1r	APN	5	123989735	critical splice donor site	probably null
IGL01771:Hip1r	APN	5	123999543	missense	possibly damaging	0.95
IGL01804:Hip1r	APN	5	124001550	critical splice donor site	probably null
IGL02100:Hip1r	APN	5	123998943	unclassified	probably benign
IGL02139:Hip1r	APN	5	123996244	missense	probably damaging	1.00
IGL02321:Hip1r	APN	5	123999890	missense	probably damaging	0.99
IGL02562:Hip1r	APN	5	123991523	unclassified	probably benign
IGL02745:Hip1r	APN	5	123990939	splice site	probably null
IGL02798:Hip1r	APN	5	123994712	unclassified	probably benign
R0172:Hip1r	UTSW	5	123996940	missense	possibly damaging	0.47
R0546:Hip1r	UTSW	5	123999051	missense	possibly damaging	0.89
R0799:Hip1r	UTSW	5	123996941	missense	probably benign	0.00
R1588:Hip1r	UTSW	5	123996575	missense	probably damaging	0.98
R1590:Hip1r	UTSW	5	124002140	missense	probably benign	0.00
R1675:Hip1r	UTSW	5	123994820	missense	probably damaging	1.00
R1801:Hip1r	UTSW	5	123998808	missense	probably benign
R1818:Hip1r	UTSW	5	123995955	critical splice donor site	probably null
R1852:Hip1r	UTSW	5	123991505	missense	probably benign	0.10
R1936:Hip1r	UTSW	5	123996071	missense	probably damaging	1.00
R1954:Hip1r	UTSW	5	124001844	missense	probably damaging	0.96
R1989:Hip1r	UTSW	5	123989698	missense	probably damaging	1.00
R2045:Hip1r	UTSW	5	124000731	missense	probably benign
R2105:Hip1r	UTSW	5	124000204	missense	probably damaging	0.96
R2414:Hip1r	UTSW	5	124001243	missense	probably damaging	1.00
R2909:Hip1r	UTSW	5	124000593	splice site	probably null
R3125:Hip1r	UTSW	5	124000141	missense	probably benign	0.20
R3401:Hip1r	UTSW	5	123996983	missense	probably damaging	1.00
R3402:Hip1r	UTSW	5	123996983	missense	probably damaging	1.00
R3889:Hip1r	UTSW	5	124001791	nonsense	probably null
R4212:Hip1r	UTSW	5	123999890	missense	probably benign	0.06
R4421:Hip1r	UTSW	5	123997862	missense	possibly damaging	0.66
R4422:Hip1r	UTSW	5	123997006	missense	possibly damaging	0.93
R4713:Hip1r	UTSW	5	123989980	missense	probably benign	0.02
R6837:Hip1r	UTSW	5	123998865	missense	possibly damaging	0.63
R7171:Hip1r	UTSW	5	123995944	missense	probably benign	0.02
R7212:Hip1r	UTSW	5	123973782	missense	possibly damaging	0.91
R7251:Hip1r	UTSW	5	123994750	missense	probably damaging	1.00
R7319:Hip1r	UTSW	5	123999111	missense	probably damaging	1.00
R7432:Hip1r	UTSW	5	123991766	missense	probably benign	0.05
R7592:Hip1r	UTSW	5	123997973	missense	probably benign	0.21
R7708:Hip1r	UTSW	5	123997469	missense	possibly damaging	0.82
R7773:Hip1r	UTSW	5	124001441	missense	probably benign	0.00
R8132:Hip1r	UTSW	5	123997227	missense	probably damaging	1.00
R8804:Hip1r	UTSW	5	124001512	missense	possibly damaging	0.70
Z1088:Hip1r	UTSW	5	123999132	splice site	probably null
Z1176:Hip1r	UTSW	5	123997010	missense	probably damaging	1.00

Posted On

2016-08-02