Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Hip1r'

230865

Institutional Source

Beutler Lab

Gene Symbol

Hip1r

Ensembl Gene

ENSMUSG00000000915

Gene Name

huntingtin interacting protein 1 related

Synonyms

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123973628-124005558 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124000204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 787 (M787K)

Ref Sequence

ENSEMBL: ENSMUSP00000000939 (fasta)

Gene Model

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

AlphaFold

Q9JKY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000000939
AA Change: M787K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: M787K

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: M62K

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	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
IGL03365:Hip1r	APN	5	124000167	missense	probably damaging	1.00
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
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
R8882:Hip1r	UTSW	5	124001962	missense	probably damaging	1.00
R9643:Hip1r	UTSW	5	124001256	missense	probably damaging	1.00
R9650:Hip1r	UTSW	5	123997294	critical splice donor site	probably null
R9695:Hip1r	UTSW	5	124001853	missense	possibly damaging	0.95
Z1088:Hip1r	UTSW	5	123999132	splice site	probably null
Z1176:Hip1r	UTSW	5	123997010	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCACACACTACCACCTTTG -3'
(R):5'- AGTCAGGAAGGTCGGATCTC -3'

Sequencing Primer
(F):5'- GCCACCCTCGTCTGCTG -3'
(R):5'- AAGGTCGGATCTCGTGGAC -3'

Posted On

2014-09-18