Mutagenetix > Incidental Mutation

Incidental Mutation 'R9272:Rin3'

703037

Institutional Source

Beutler Lab

Gene Symbol

Rin3

Ensembl Gene

ENSMUSG00000044456

Gene Name

Ras and Rab interactor 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102249307-102357114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102335691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 534 (D534V)

Ref Sequence

ENSEMBL: ENSMUSP00000060771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056950] [ENSMUST00000133820]

AlphaFold

P59729

Predicted Effect

probably damaging
Transcript: ENSMUST00000056950
AA Change: D534V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456
AA Change: D534V

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
SH2	61	149	1.89e-2	SMART
low complexity region	254	311	N/A	INTRINSIC
low complexity region	316	325	N/A	INTRINSIC
low complexity region	358	380	N/A	INTRINSIC
low complexity region	448	469	N/A	INTRINSIC
low complexity region	514	523	N/A	INTRINSIC
low complexity region	579	594	N/A	INTRINSIC
low complexity region	714	728	N/A	INTRINSIC
VPS9	736	852	5.75e-38	SMART
RA	873	960	3.5e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000133820
AA Change: D454V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456
AA Change: D454V

Domain	Start	End	E-Value	Type
Blast:SH2	1	69	3e-39	BLAST
SCOP:d1a81a2	3	77	2e-4	SMART
low complexity region	174	231	N/A	INTRINSIC
low complexity region	236	245	N/A	INTRINSIC
low complexity region	278	300	N/A	INTRINSIC
low complexity region	368	389	N/A	INTRINSIC
low complexity region	434	443	N/A	INTRINSIC
low complexity region	499	514	N/A	INTRINSIC
low complexity region	634	648	N/A	INTRINSIC
VPS9	656	772	5.75e-38	SMART
RA	793	880	3.5e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	G	6: 146,854,499 (GRCm39)	V181A	probably damaging	Het
Abca16	T	A	7: 120,076,993 (GRCm39)	D686E	probably benign	Het
Abca8a	C	A	11: 109,953,908 (GRCm39)	C844F	probably damaging	Het
Acd	G	A	8: 106,424,952 (GRCm39)	P396L	probably damaging	Het
Adamtsl3	A	G	7: 82,189,753 (GRCm39)	Y659C	probably damaging	Het
Ankfn1	C	T	11: 89,413,875 (GRCm39)	V167M	probably benign	Het
Ankrd13c	T	A	3: 157,700,358 (GRCm39)	L393Q	possibly damaging	Het
Arid1b	G	A	17: 5,386,879 (GRCm39)	G1391D	possibly damaging	Het
Arid5b	T	A	10: 67,937,882 (GRCm39)	D415V	probably damaging	Het
Arl13b	G	T	16: 62,647,774 (GRCm39)	H45N	probably benign	Het
Atp13a4	A	T	16: 29,268,797 (GRCm39)	I519N		Het
Atrnl1	T	C	19: 57,643,420 (GRCm39)	I436T	probably benign	Het
Bbx	A	G	16: 50,022,935 (GRCm39)	I675T	probably damaging	Het
Bcas1	A	T	2: 170,190,040 (GRCm39)	V619E	probably damaging	Het
Cad	T	C	5: 31,218,576 (GRCm39)	V501A	possibly damaging	Het
Car8	T	A	4: 8,169,686 (GRCm39)	N274I	probably damaging	Het
Ccdc3	A	G	2: 5,146,143 (GRCm39)	Q159R	probably damaging	Het
Ccdc7b	A	T	8: 129,893,459 (GRCm39)	E95D	possibly damaging	Het
Cdh12	G	T	15: 21,492,801 (GRCm39)		probably benign	Het
Col11a1	G	T	3: 113,901,948 (GRCm39)	G548*	probably null	Het
Cpb2	A	G	14: 75,520,803 (GRCm39)	E406G	probably damaging	Het
Crocc	T	C	4: 140,747,132 (GRCm39)	S1723G	probably benign	Het
Ctu2	T	C	8: 123,206,045 (GRCm39)	V262A	probably benign	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dock3	A	T	9: 106,774,569 (GRCm39)	M62K	probably benign	Het
Dok7	G	A	5: 35,214,239 (GRCm39)		probably benign	Het
E2f3	A	G	13: 30,102,629 (GRCm39)	Y211H	probably damaging	Het
Elapor2	T	C	5: 9,460,699 (GRCm39)	Y207H	probably damaging	Het
Fam53c	T	A	18: 34,895,774 (GRCm39)	S25R	probably damaging	Het
Fhod3	T	G	18: 25,030,681 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Ggt1	A	T	10: 75,421,749 (GRCm39)	H532L	probably benign	Het
Gm10775	A	C	13: 65,407,770 (GRCm39)	T24P	unknown	Het
Hinfp	A	G	9: 44,213,872 (GRCm39)	S2P	probably benign	Het
Hs3st4	A	G	7: 123,582,749 (GRCm39)	T116A	probably benign	Het
Ighv5-9-1	A	T	12: 113,699,818 (GRCm39)	I98N	probably damaging	Het
Ipo11	A	T	13: 107,046,713 (GRCm39)	Y171N	probably benign	Het
Jph1	C	A	1: 17,161,838 (GRCm39)	A275S	probably damaging	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnh7	A	T	2: 62,618,097 (GRCm39)	I464K	probably damaging	Het
Lrp8	C	A	4: 107,717,158 (GRCm39)	P603T	probably benign	Het
Man1c1	C	A	4: 134,291,118 (GRCm39)	D593Y	probably damaging	Het
Mdm4	A	T	1: 132,929,169 (GRCm39)	I176K	possibly damaging	Het
Mpo	T	C	11: 87,686,693 (GRCm39)	V139A	probably benign	Het
Niban3	A	C	8: 72,055,520 (GRCm39)	D310A	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1f12	A	G	13: 21,721,864 (GRCm39)	S89P	possibly damaging	Het
Or4k51	G	A	2: 111,584,965 (GRCm39)	V124M	probably damaging	Het
Or9g4b	A	T	2: 85,616,088 (GRCm39)	I78L	probably benign	Het
Pcdh7	A	G	5: 57,878,779 (GRCm39)	D778G	possibly damaging	Het
Pcdhb12	T	C	18: 37,570,675 (GRCm39)	F607S	probably damaging	Het
Pcolce	A	G	5: 137,606,333 (GRCm39)	F157L	probably benign	Het
Pogk	T	C	1: 166,226,780 (GRCm39)	Y457C	probably damaging	Het
Ppp1r21	G	A	17: 88,866,086 (GRCm39)	E323K	possibly damaging	Het
Prkn	T	A	17: 11,456,527 (GRCm39)	V117E	probably damaging	Het
Prr12	A	C	7: 44,692,811 (GRCm39)	F1574V	probably damaging	Het
Rasl2-9	A	T	7: 5,128,448 (GRCm39)	F161I	probably damaging	Het
Rb1	A	G	14: 73,517,602 (GRCm39)	I268T	possibly damaging	Het
Scn5a	C	T	9: 119,315,717 (GRCm39)	G1664S	probably damaging	Het
Sin3b	T	C	8: 73,471,168 (GRCm39)	S372P	probably benign	Het
Snx32	T	A	19: 5,548,485 (GRCm39)	H65L	probably damaging	Het
Spidr	T	A	16: 15,855,544 (GRCm39)	I324F	probably damaging	Het
Stab1	A	T	14: 30,867,298 (GRCm39)	F1687L	probably benign	Het
Taar6	T	C	10: 23,860,903 (GRCm39)	I214M	probably benign	Het
Vmn2r105	T	A	17: 20,447,685 (GRCm39)	N380Y	probably damaging	Het

Other mutations in Rin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Rin3	APN	12	102,339,862 (GRCm39)	missense	probably damaging	1.00
IGL01521:Rin3	APN	12	102,335,307 (GRCm39)	missense	probably benign	0.00
PIT4495001:Rin3	UTSW	12	102,335,295 (GRCm39)	missense	probably benign	0.02
R0109:Rin3	UTSW	12	102,279,340 (GRCm39)	missense	possibly damaging	0.74
R0109:Rin3	UTSW	12	102,279,340 (GRCm39)	missense	possibly damaging	0.74
R0504:Rin3	UTSW	12	102,353,823 (GRCm39)	nonsense	probably null
R0699:Rin3	UTSW	12	102,335,834 (GRCm39)	missense	probably damaging	0.98
R1499:Rin3	UTSW	12	102,335,018 (GRCm39)	missense	unknown
R1733:Rin3	UTSW	12	102,335,589 (GRCm39)	nonsense	probably null
R1743:Rin3	UTSW	12	102,356,355 (GRCm39)	missense	possibly damaging	0.87
R2911:Rin3	UTSW	12	102,339,843 (GRCm39)	missense	probably benign	0.43
R2961:Rin3	UTSW	12	102,279,305 (GRCm39)	nonsense	probably null
R3153:Rin3	UTSW	12	102,334,800 (GRCm39)	missense	unknown
R3932:Rin3	UTSW	12	102,356,342 (GRCm39)	missense	probably damaging	0.98
R4498:Rin3	UTSW	12	102,335,939 (GRCm39)	missense	probably damaging	1.00
R4803:Rin3	UTSW	12	102,327,642 (GRCm39)	intron	probably benign
R4985:Rin3	UTSW	12	102,334,821 (GRCm39)	missense	unknown
R5300:Rin3	UTSW	12	102,335,929 (GRCm39)	missense	probably benign	0.29
R5363:Rin3	UTSW	12	102,292,093 (GRCm39)	missense	probably damaging	0.97
R5414:Rin3	UTSW	12	102,356,116 (GRCm39)	nonsense	probably null
R5458:Rin3	UTSW	12	102,339,975 (GRCm39)	missense	probably damaging	0.99
R5503:Rin3	UTSW	12	102,279,314 (GRCm39)	missense	probably benign	0.17
R5534:Rin3	UTSW	12	102,353,891 (GRCm39)	missense	probably damaging	1.00
R5599:Rin3	UTSW	12	102,356,188 (GRCm39)	missense	probably damaging	1.00
R5752:Rin3	UTSW	12	102,279,378 (GRCm39)	start gained	probably benign
R5874:Rin3	UTSW	12	102,356,102 (GRCm39)	missense	probably damaging	1.00
R6467:Rin3	UTSW	12	102,335,584 (GRCm39)	missense	probably benign	0.06
R7250:Rin3	UTSW	12	102,334,893 (GRCm39)	missense	unknown
R7264:Rin3	UTSW	12	102,356,374 (GRCm39)	missense	probably benign	0.01
R7514:Rin3	UTSW	12	102,335,909 (GRCm39)	nonsense	probably null
R7534:Rin3	UTSW	12	102,317,200 (GRCm39)	missense	unknown
R7837:Rin3	UTSW	12	102,335,024 (GRCm39)	missense	unknown
R7875:Rin3	UTSW	12	102,335,735 (GRCm39)	missense	probably damaging	1.00
R7983:Rin3	UTSW	12	102,335,418 (GRCm39)	missense	probably benign	0.14
R8014:Rin3	UTSW	12	102,327,630 (GRCm39)	nonsense	probably null
R8187:Rin3	UTSW	12	102,292,066 (GRCm39)	missense	unknown
R8757:Rin3	UTSW	12	102,339,861 (GRCm39)	missense	probably damaging	1.00
R8759:Rin3	UTSW	12	102,339,861 (GRCm39)	missense	probably damaging	1.00
R8841:Rin3	UTSW	12	102,335,537 (GRCm39)	missense	probably benign	0.16
R8843:Rin3	UTSW	12	102,335,857 (GRCm39)	missense	probably benign	0.08
R9050:Rin3	UTSW	12	102,335,738 (GRCm39)	missense	probably damaging	1.00
R9197:Rin3	UTSW	12	102,335,306 (GRCm39)	missense	probably benign	0.03
R9424:Rin3	UTSW	12	102,335,589 (GRCm39)	nonsense	probably null
R9517:Rin3	UTSW	12	102,334,895 (GRCm39)	missense	unknown
R9576:Rin3	UTSW	12	102,335,589 (GRCm39)	nonsense	probably null
Z1177:Rin3	UTSW	12	102,292,121 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCTCAGTCCCTTGGAGAGC -3'
(R):5'- AGTAGGAGCTCTTGTCCTGTGC -3'

Sequencing Primer
(F):5'- TTGGAGAGCCCCATACAGG -3'
(R):5'- CTTATACAGTTTGCGGTCGC -3'

Posted On

2022-03-25