Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Hip1r'

203125

Institutional Source

Beutler Lab

Gene Symbol

Hip1r

Ensembl Gene

ENSMUSG00000000915

Gene Name

huntingtin interacting protein 1 related

Synonyms

MMRRC Submission

039831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1801 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

123973628-124005558 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123998808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 613 (R613Q)

Ref Sequence

ENSEMBL: ENSMUSP00000000939 (fasta)

Gene Model

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

AlphaFold

Q9JKY5

Predicted Effect

probably benign
Transcript: ENSMUST00000000939
AA Change: R613Q

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

SMART Domains

Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: R613Q

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

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,396	E362G	probably damaging	Het
Abcc5	T	C	16: 20,338,887	M1307V	probably benign	Het
Adamts9	A	G	6: 92,863,376	V1142A	probably benign	Het
Ano10	T	C	9: 122,253,030	N525S	probably damaging	Het
Bpifa2	T	C	2: 154,011,504		probably null	Het
C7	C	T	15: 5,012,021	V468I	possibly damaging	Het
Carf	A	T	1: 60,141,505	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,546,895	I37L	probably benign	Het
Ccdc182	T	C	11: 88,294,190	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,834,626	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,960,997	Y920F	unknown	Het
Cpsf3	T	C	12: 21,313,790	V627A	probably benign	Het
D7Ertd443e	A	G	7: 134,270,212	M640T	probably damaging	Het
Ddi2	T	C	4: 141,683,972	D543G	probably damaging	Het
Dnah9	T	C	11: 65,955,297	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,680,804	D304G	probably damaging	Het
Epg5	T	C	18: 77,983,490	V1232A	possibly damaging	Het
Ezr	T	C	17: 6,742,372	T358A	possibly damaging	Het
Filip1	A	G	9: 79,815,846	S1164P	probably damaging	Het
Gm14085	C	T	2: 122,521,652	R324C	possibly damaging	Het
Gm5346	A	T	8: 43,625,917	C423*	probably null	Het
Gmip	T	C	8: 69,814,477	V341A	probably benign	Het
Gnb3	A	C	6: 124,835,636	F286V	probably benign	Het
Gpatch2	T	A	1: 187,225,831	S128T	probably benign	Het
Gpr87	T	C	3: 59,179,392	R231G	possibly damaging	Het
Hsd3b7	T	C	7: 127,803,034	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,698,875	D275V	probably damaging	Het
Il4	G	T	11: 53,618,538	H23Q	possibly damaging	Het
Kit	A	G	5: 75,648,393	Y749C	probably damaging	Het
Klb	A	G	5: 65,349,235	K275R	probably null	Het
Klhl12	G	T	1: 134,489,070	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,480,823	Y345C	probably damaging	Het
Med15	T	C	16: 17,680,735	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,390	Y387N	probably damaging	Het
Myrf	C	A	19: 10,214,191	V928L	probably benign	Het
Nr1d1	T	C	11: 98,771,499	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,283,582	D305V	probably damaging	Het
Obscn	A	C	11: 58,998,321	S7542A	unknown	Het
Olfr1197	T	A	2: 88,729,264	I112F	probably damaging	Het
Pak4	G	A	7: 28,565,190	R96C	probably damaging	Het
Papd5	T	G	8: 88,250,788	V406G	probably benign	Het
Pde6b	A	T	5: 108,427,847	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,345,605	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,654	V873I	possibly damaging	Het
Plb1	A	T	5: 32,293,243	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,963,904	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,416,904	C263R	probably damaging	Het
Psma2	A	T	13: 14,623,605	Y104F	probably benign	Het
Ptger4	T	A	15: 5,242,800	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,404,477	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,694,209	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,914,872	L102P	probably damaging	Het
Ryr2	T	C	13: 11,595,281	S655G	probably benign	Het
Samd4b	A	T	7: 28,407,331		probably null	Het
Sema4a	C	T	3: 88,436,749	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,346,351	D378G	probably benign	Het
Sh3gl3	C	T	7: 82,284,119	T230I	possibly damaging	Het
Slc5a1	A	T	5: 33,146,953	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,936,607	H681N	probably benign	Het
Sugp2	T	C	8: 70,236,710	S10P	possibly damaging	Het
Supt5	A	G	7: 28,317,214		probably null	Het
Syna	A	G	5: 134,560,089	V2A	probably benign	Het
Tcp1	T	A	17: 12,922,202	Y299*	probably null	Het
Tenm3	C	A	8: 48,276,256	V1572L	probably benign	Het
Trp53rka	A	G	2: 165,491,613	S119P	probably damaging	Het
Ubr4	T	A	4: 139,452,563		probably null	Het
Uchl4	T	A	9: 64,235,475	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,428,478	T405K	probably damaging	Het
Xpnpep1	A	G	19: 53,010,133	L228P	probably damaging	Het
Xrcc4	T	G	13: 89,992,579	E170D	probably damaging	Het
Zfp945	T	C	17: 22,851,762	T388A	probably damaging	Het
Zfp947	G	A	17: 22,146,462	A77V	probably benign	Het
Zkscan5	G	A	5: 145,220,205	G433R	probably 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
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
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
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'- CTCATGAGTCACCCAAGTCCTG -3'
(R):5'- GAAGAAAGTGCAGCCTCAAC -3'

Sequencing Primer
(F):5'- CCAAGTCCTGGGAGGTAGG -3'
(R):5'- CTGCTTCTCAGGACTGGGTGAC -3'

Posted On

2014-06-23