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

124111665-124141278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124136871 bp (GRCm39)

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: 78,903,230 (GRCm39)	E362G	probably damaging	Het
Abcc5	T	C	16: 20,157,637 (GRCm39)	M1307V	probably benign	Het
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Adamts9	A	G	6: 92,840,357 (GRCm39)	V1142A	probably benign	Het
Ano10	T	C	9: 122,082,096 (GRCm39)	N525S	probably damaging	Het
Bpifa2	T	C	2: 153,853,424 (GRCm39)		probably null	Het
C7	C	T	15: 5,041,503 (GRCm39)	V468I	possibly damaging	Het
Carf	A	T	1: 60,180,664 (GRCm39)	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,465,132 (GRCm39)	I37L	probably benign	Het
Ccdc182	T	C	11: 88,185,016 (GRCm39)	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,711,825 (GRCm39)	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,790,065 (GRCm39)	Y920F	unknown	Het
Cpsf3	T	C	12: 21,363,791 (GRCm39)	V627A	probably benign	Het
D7Ertd443e	A	G	7: 133,871,941 (GRCm39)	M640T	probably damaging	Het
Ddi2	T	C	4: 141,411,283 (GRCm39)	D543G	probably damaging	Het
Dnah9	T	C	11: 65,846,123 (GRCm39)	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,813,857 (GRCm39)	D304G	probably damaging	Het
Epg5	T	C	18: 78,026,705 (GRCm39)	V1232A	possibly damaging	Het
Ezr	T	C	17: 7,009,771 (GRCm39)	T358A	possibly damaging	Het
Filip1	A	G	9: 79,723,128 (GRCm39)	S1164P	probably damaging	Het
Gmip	T	C	8: 70,267,127 (GRCm39)	V341A	probably benign	Het
Gnb3	A	C	6: 124,812,599 (GRCm39)	F286V	probably benign	Het
Gpatch2	T	A	1: 186,958,028 (GRCm39)	S128T	probably benign	Het
Gpr87	T	C	3: 59,086,813 (GRCm39)	R231G	possibly damaging	Het
Hsd3b7	T	C	7: 127,402,206 (GRCm39)	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,517,625 (GRCm39)	D275V	probably damaging	Het
Il4	G	T	11: 53,509,365 (GRCm39)	H23Q	possibly damaging	Het
Kit	A	G	5: 75,809,053 (GRCm39)	Y749C	probably damaging	Het
Klb	A	G	5: 65,506,578 (GRCm39)	K275R	probably null	Het
Klhl12	G	T	1: 134,416,808 (GRCm39)	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,628,689 (GRCm39)	Y345C	probably damaging	Het
Med15	T	C	16: 17,498,599 (GRCm39)	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,391 (GRCm39)	Y387N	probably damaging	Het
Myrf	C	A	19: 10,191,555 (GRCm39)	V928L	probably benign	Het
Nr1d1	T	C	11: 98,662,325 (GRCm39)	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,250,356 (GRCm39)	D305V	probably damaging	Het
Obscn	A	C	11: 58,889,147 (GRCm39)	S7542A	unknown	Het
Or4a27	T	A	2: 88,559,608 (GRCm39)	I112F	probably damaging	Het
Pak4	G	A	7: 28,264,615 (GRCm39)	R96C	probably damaging	Het
Pde6b	A	T	5: 108,575,713 (GRCm39)	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,221,601 (GRCm39)	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,740 (GRCm39)	V873I	possibly damaging	Het
Plb1	A	T	5: 32,450,587 (GRCm39)	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,913,904 (GRCm39)	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,393,885 (GRCm39)	C263R	probably damaging	Het
Psma2	A	T	13: 14,798,190 (GRCm39)	Y104F	probably benign	Het
Ptger4	T	A	15: 5,272,281 (GRCm39)	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,006,201 (GRCm39)	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,592,090 (GRCm39)	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Ryr2	T	C	13: 11,610,167 (GRCm39)	S655G	probably benign	Het
Samd4b	A	T	7: 28,106,756 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,344,056 (GRCm39)	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sh3gl3	C	T	7: 81,933,327 (GRCm39)	T230I	possibly damaging	Het
Slc28a2b	C	T	2: 122,352,133 (GRCm39)	R324C	possibly damaging	Het
Slc5a1	A	T	5: 33,304,297 (GRCm39)	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,939,606 (GRCm39)	H681N	probably benign	Het
Sugp2	T	C	8: 70,689,360 (GRCm39)	S10P	possibly damaging	Het
Supt5	A	G	7: 28,016,639 (GRCm39)		probably null	Het
Syna	A	G	5: 134,588,943 (GRCm39)	V2A	probably benign	Het
Tcp1	T	A	17: 13,141,089 (GRCm39)	Y299*	probably null	Het
Tenm3	C	A	8: 48,729,291 (GRCm39)	V1572L	probably benign	Het
Tent4b	T	G	8: 88,977,416 (GRCm39)	V406G	probably benign	Het
Trp53rka	A	G	2: 165,333,533 (GRCm39)	S119P	probably damaging	Het
Ubr4	T	A	4: 139,179,874 (GRCm39)		probably null	Het
Uchl4	T	A	9: 64,142,757 (GRCm39)	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,576,344 (GRCm39)	T405K	probably damaging	Het
Xpnpep1	A	G	19: 52,998,564 (GRCm39)	L228P	probably damaging	Het
Xrcc4	T	G	13: 90,140,698 (GRCm39)	E170D	probably damaging	Het
Zfp945	T	C	17: 23,070,736 (GRCm39)	T388A	probably damaging	Het
Zfp947	G	A	17: 22,365,443 (GRCm39)	A77V	probably benign	Het
Zkscan5	G	A	5: 145,157,015 (GRCm39)	G433R	probably damaging	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
IGL01771:Hip1r	APN	5	124,137,606 (GRCm39)	missense	possibly damaging	0.95
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
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

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