Mutagenetix > Incidental Mutation

Incidental Mutation 'R9419:Rin1'

712248

Institutional Source

Beutler Lab

Gene Symbol

Rin1

Ensembl Gene

ENSMUSG00000024883

Gene Name

Ras and Rab interactor 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5100509-5107099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5103735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 567 (E567G)

Ref Sequence

ENSEMBL: ENSMUSP00000025818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025818] [ENSMUST00000116567] [ENSMUST00000224178] [ENSMUST00000224288] [ENSMUST00000224363] [ENSMUST00000225427] [ENSMUST00000225799]

AlphaFold

Q921Q7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025818
AA Change: E567G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: E567G

Domain	Start	End	E-Value	Type
SH2	66	153	2.16e-5	SMART
low complexity region	241	264	N/A	INTRINSIC
low complexity region	286	300	N/A	INTRINSIC
low complexity region	307	341	N/A	INTRINSIC
low complexity region	405	422	N/A	INTRINSIC
low complexity region	432	454	N/A	INTRINSIC
VPS9	478	596	2.29e-64	SMART
RA	613	694	1.14e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116567

SMART Domains

Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268

Domain	Start	End	E-Value	Type
low complexity region	29	59	N/A	INTRINSIC
Pfam:Sds3	60	209	5.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224178

Predicted Effect

probably benign
Transcript: ENSMUST00000224288

Predicted Effect

probably benign
Transcript: ENSMUST00000224363

Predicted Effect

probably damaging
Transcript: ENSMUST00000225427
AA Change: E556G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225799

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an enhanced conditioned response in cued conditioning protocols and avoidance learning tests. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,682,685 (GRCm39)	T30A	unknown	Het
Abca12	A	G	1: 71,342,649 (GRCm39)	Y944H	possibly damaging	Het
Adgrv1	T	C	13: 81,656,887 (GRCm39)	N2869S	probably benign	Het
Ank1	C	A	8: 23,574,825 (GRCm39)	Q140K	probably damaging	Het
Aspm	T	A	1: 139,384,923 (GRCm39)	M189K	probably benign	Het
Atp2b1	G	T	10: 98,837,178 (GRCm39)	R539L	possibly damaging	Het
Camsap1	A	G	2: 25,845,304 (GRCm39)	S152P		Het
Catsperd	A	T	17: 56,958,821 (GRCm39)	I276L	probably benign	Het
Cbarp	A	G	10: 79,967,861 (GRCm39)	V460A	probably damaging	Het
Ccdc168	T	C	1: 44,096,935 (GRCm39)	I1388V	probably benign	Het
Cd40	A	T	2: 164,904,162 (GRCm39)		probably benign	Het
Cdk11b	A	T	4: 155,724,302 (GRCm39)	T307S	unknown	Het
Chfr	C	T	5: 110,317,056 (GRCm39)	T643I	probably damaging	Het
Cnbd1	T	C	4: 19,098,156 (GRCm39)	Q88R	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Ghdc	G	T	11: 100,661,081 (GRCm39)	A28D	probably damaging	Het
Gm5114	T	C	7: 39,057,540 (GRCm39)	H693R	possibly damaging	Het
H2-M1	G	T	17: 36,981,231 (GRCm39)	A268E	probably damaging	Het
Hsf5	A	G	11: 87,528,935 (GRCm39)	N557D	probably benign	Het
Ighg2c	A	G	12: 113,251,015 (GRCm39)		probably benign	Het
Il17ra	C	A	6: 120,458,255 (GRCm39)	Q469K	possibly damaging	Het
Ipo8	T	A	6: 148,686,064 (GRCm39)	N809Y	probably benign	Het
Klra10	T	A	6: 130,256,435 (GRCm39)	Q73L	probably damaging	Het
Lamb2	T	C	9: 108,356,959 (GRCm39)	V3A	unknown	Het
Map3k9	T	C	12: 81,827,341 (GRCm39)	Y103C	probably damaging	Het
Map4	T	C	9: 109,882,029 (GRCm39)	S298P	possibly damaging	Het
Mtus2	T	A	5: 148,243,451 (GRCm39)	N1254K	probably damaging	Het
Nap1l5	T	A	6: 58,883,952 (GRCm39)	M1L	probably benign	Het
Nfxl1	G	A	5: 72,716,641 (GRCm39)		probably benign	Het
Nmd3	T	C	3: 69,643,349 (GRCm39)	I227T	probably benign	Het
Or8c10	T	G	9: 38,279,162 (GRCm39)	C97G	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptchd3	G	A	11: 121,732,356 (GRCm39)	M415I	possibly damaging	Het
Rab28	A	T	5: 41,793,182 (GRCm39)	S154R	possibly damaging	Het
Rrbp1	A	C	2: 143,811,436 (GRCm39)	V806G	probably benign	Het
Sec63	T	A	10: 42,679,901 (GRCm39)	L326Q	probably damaging	Het
Serinc2	T	C	4: 130,149,315 (GRCm39)	T296A	probably damaging	Het
Skint10	G	A	4: 112,572,981 (GRCm39)	L272F	probably damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Stag1	A	G	9: 100,811,967 (GRCm39)	Q815R	probably benign	Het
Stat3	A	G	11: 100,780,357 (GRCm39)	M735T	possibly damaging	Het
Stat3	A	G	11: 100,784,738 (GRCm39)	I576T	probably benign	Het
Styxl2	T	C	1: 165,927,755 (GRCm39)	Q619R	probably damaging	Het
Syne1	T	C	10: 5,155,071 (GRCm39)	K5623E	probably benign	Het
Tas1r2	T	C	4: 139,387,036 (GRCm39)	V165A	possibly damaging	Het
Tcaf3	A	T	6: 42,573,716 (GRCm39)	D165E	probably benign	Het
Tex2	G	A	11: 106,457,835 (GRCm39)	Q532*	probably null	Het
Utrn	T	C	10: 12,564,125 (GRCm39)	E1245G	probably damaging	Het

Other mutations in Rin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Rin1	APN	19	5,101,404 (GRCm39)	missense	probably benign	0.43
IGL00504:Rin1	APN	19	5,102,438 (GRCm39)	missense	probably benign	0.00
IGL01750:Rin1	APN	19	5,102,064 (GRCm39)	missense	possibly damaging	0.74
IGL02828:Rin1	APN	19	5,103,118 (GRCm39)	missense	possibly damaging	0.82
IGL02867:Rin1	APN	19	5,103,198 (GRCm39)	missense	probably damaging	1.00
IGL02879:Rin1	APN	19	5,101,383 (GRCm39)	missense	probably damaging	0.99
IGL03055:Rin1	UTSW	19	5,103,187 (GRCm39)	missense	probably benign
R0193:Rin1	UTSW	19	5,102,680 (GRCm39)	missense	probably damaging	0.96
R1174:Rin1	UTSW	19	5,105,231 (GRCm39)	missense	probably benign	0.02
R1712:Rin1	UTSW	19	5,105,171 (GRCm39)	missense	probably benign	0.00
R2656:Rin1	UTSW	19	5,102,204 (GRCm39)	missense	probably damaging	1.00
R3930:Rin1	UTSW	19	5,103,002 (GRCm39)	missense	probably benign	0.14
R4704:Rin1	UTSW	19	5,105,018 (GRCm39)	missense	probably damaging	1.00
R5326:Rin1	UTSW	19	5,102,652 (GRCm39)	missense	probably damaging	1.00
R6778:Rin1	UTSW	19	5,104,914 (GRCm39)	missense	probably damaging	1.00
R7107:Rin1	UTSW	19	5,100,801 (GRCm39)	unclassified	probably benign
R7391:Rin1	UTSW	19	5,100,888 (GRCm39)	start codon destroyed	probably null	0.99
R7535:Rin1	UTSW	19	5,102,564 (GRCm39)	missense	probably benign	0.01
R7818:Rin1	UTSW	19	5,102,219 (GRCm39)	missense	probably benign	0.03
R8037:Rin1	UTSW	19	5,101,852 (GRCm39)	missense	probably damaging	1.00
R8336:Rin1	UTSW	19	5,105,013 (GRCm39)	missense	possibly damaging	0.75
R8543:Rin1	UTSW	19	5,102,100 (GRCm39)	missense	probably damaging	1.00
R8845:Rin1	UTSW	19	5,104,947 (GRCm39)	missense	probably damaging	0.98
R9120:Rin1	UTSW	19	5,103,048 (GRCm39)	missense	probably damaging	1.00
R9254:Rin1	UTSW	19	5,103,249 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTTAGGGCTTTAGCAGGTG -3'
(R):5'- TTAGGCCACTCAACAAGGCC -3'

Sequencing Primer
(F):5'- CCACACTGTCTAGCATGGAGATTG -3'
(R):5'- ACTCAACAAGGCCAGGCTGG -3'

Posted On

2022-05-16