Mutagenetix > Incidental Mutation

Incidental Mutation 'R4062:Rinl'

315906

Institutional Source

Beutler Lab

Gene Symbol

Rinl

Ensembl Gene

ENSMUSG00000051735

Gene Name

Ras and Rab interactor-like

Synonyms

9930116N10Rik, 5830482F20Rik

MMRRC Submission

040971-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4062 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28488394-28498388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28490140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 60 (Y60H)

Ref Sequence

ENSEMBL: ENSMUSP00000146576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059857] [ENSMUST00000072965] [ENSMUST00000122915] [ENSMUST00000155327] [ENSMUST00000209035] [ENSMUST00000170068]

AlphaFold

Q80UW3

Predicted Effect

probably benign
Transcript: ENSMUST00000059857
AA Change: Y60H

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

SMART Domains

Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735
AA Change: Y60H

Domain	Start	End	E-Value	Type
Blast:SH2	50	132	2e-38	BLAST
SCOP:d1lkka_	69	143	3e-3	SMART
low complexity region	183	196	N/A	INTRINSIC
low complexity region	376	395	N/A	INTRINSIC
Pfam:VPS9	410	514	2.5e-21	PFAM
low complexity region	542	553	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072965

SMART Domains

Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149

Domain	Start	End	E-Value	Type
low complexity region	22	37	N/A	INTRINSIC
Pfam:SIR2	84	268	2.6e-60	PFAM
low complexity region	297	307	N/A	INTRINSIC
low complexity region	373	387	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132789

Predicted Effect

probably benign
Transcript: ENSMUST00000155327

Predicted Effect

probably benign
Transcript: ENSMUST00000209035
AA Change: Y60H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207201

Predicted Effect

probably benign
Transcript: ENSMUST00000170068

SMART Domains

Protein: ENSMUSP00000132783
Gene: ENSMUSG00000015149

Domain	Start	End	E-Value	Type
Pfam:SIR2	14	198	3.8e-61	PFAM
low complexity region	227	237	N/A	INTRINSIC
low complexity region	303	317	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,197,928 (GRCm39)	L140Q	probably damaging	Het
Adam17	T	C	12: 21,375,458 (GRCm39)	D787G	probably damaging	Het
Adamtsl4	T	C	3: 95,584,864 (GRCm39)	K935E	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Bnip3l	T	C	14: 67,246,187 (GRCm39)	N16S	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cdc40	A	T	10: 40,725,848 (GRCm39)		probably null	Het
Clec4b1	C	A	6: 123,045,443 (GRCm39)	H55N	probably benign	Het
Cyp4a10	A	T	4: 115,376,898 (GRCm39)	R87S	probably benign	Het
Duoxa2	G	T	2: 122,131,058 (GRCm39)	S73I	probably damaging	Het
Dytn	A	G	1: 63,686,606 (GRCm39)	C355R	probably benign	Het
Emilin3	T	C	2: 160,749,716 (GRCm39)	T631A	probably benign	Het
Ep400	A	T	5: 110,889,847 (GRCm39)	M472K	probably benign	Het
Erap1	G	T	13: 74,811,655 (GRCm39)	M338I	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fanca	T	C	8: 124,001,911 (GRCm39)	T1061A	probably benign	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Gcdh	T	C	8: 85,619,082 (GRCm39)	I152V	probably damaging	Het
Gls	T	C	1: 52,235,907 (GRCm39)	K403E	probably damaging	Het
Gorasp2	T	C	2: 70,509,857 (GRCm39)	C173R	probably damaging	Het
Greb1l	G	A	18: 10,522,150 (GRCm39)	V749I	probably damaging	Het
Hnrnpll	T	C	17: 80,340,201 (GRCm39)	H526R	probably benign	Het
Il18r1	G	A	1: 40,514,096 (GRCm39)	V101I	probably benign	Het
Incenp	A	T	19: 9,861,142 (GRCm39)	M480K	unknown	Het
Isl1	T	A	13: 116,439,626 (GRCm39)	I241F	probably benign	Het
Kdm6a	A	G	X: 18,117,114 (GRCm39)	T266A	probably benign	Het
Lcp1	T	C	14: 75,452,620 (GRCm39)	V442A	probably damaging	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mbnl1	T	C	3: 60,511,176 (GRCm39)	L136P	probably damaging	Het
Mrps24	G	A	11: 5,654,676 (GRCm39)	R93*	probably null	Het
Nkd2	C	T	13: 73,970,809 (GRCm39)	G258R	probably null	Het
Obscn	T	C	11: 58,973,536 (GRCm39)	T1932A	probably damaging	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,004,515 (GRCm39)		probably benign	Het
Ptpn18	A	T	1: 34,512,011 (GRCm39)	H45L	possibly damaging	Het
Rab3il1	T	C	19: 10,003,988 (GRCm39)	S36P	probably benign	Het
Rims1	G	T	1: 22,572,664 (GRCm39)	N512K	probably benign	Het
Scamp2	G	T	9: 57,484,545 (GRCm39)		probably null	Het
Septin9	T	C	11: 117,243,091 (GRCm39)	S324P	probably damaging	Het
Sh3pxd2b	G	T	11: 32,372,263 (GRCm39)	A477S	probably benign	Het
Soat2	A	G	15: 102,069,526 (GRCm39)	T396A	possibly damaging	Het
Tenm2	C	T	11: 35,899,482 (GRCm39)	G2559S	probably damaging	Het
Tpcn1	G	A	5: 120,695,962 (GRCm39)	A97V	possibly damaging	Het
Trdn	A	G	10: 33,133,083 (GRCm39)	E311G	probably benign	Het
Usp13	T	C	3: 32,935,572 (GRCm39)	Y333H	probably damaging	Het
Usp18	A	G	6: 121,238,326 (GRCm39)	T158A	probably benign	Het
Vmn1r118	G	T	7: 20,645,933 (GRCm39)	Q114K	probably damaging	Het
Wwp1	A	T	4: 19,638,644 (GRCm39)	N566K	possibly damaging	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	Het

Other mutations in Rinl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02370:Rinl	APN	7	28,494,397 (GRCm39)	splice site	probably null
IGL03126:Rinl	APN	7	28,495,075 (GRCm39)	splice site	probably benign
IGL03345:Rinl	APN	7	28,496,222 (GRCm39)	missense	possibly damaging	0.55
R1453:Rinl	UTSW	7	28,496,329 (GRCm39)	missense	probably damaging	1.00
R1648:Rinl	UTSW	7	28,497,057 (GRCm39)	missense	probably damaging	1.00
R1722:Rinl	UTSW	7	28,491,669 (GRCm39)	missense	probably damaging	1.00
R2127:Rinl	UTSW	7	28,496,168 (GRCm39)	missense	probably damaging	1.00
R2290:Rinl	UTSW	7	28,491,696 (GRCm39)	missense	probably benign	0.00
R2472:Rinl	UTSW	7	28,489,803 (GRCm39)	missense	possibly damaging	0.83
R2883:Rinl	UTSW	7	28,497,083 (GRCm39)	frame shift	probably null
R6180:Rinl	UTSW	7	28,496,365 (GRCm39)	missense	probably benign	0.02
R7080:Rinl	UTSW	7	28,496,101 (GRCm39)	missense	probably damaging	0.99
R8112:Rinl	UTSW	7	28,490,014 (GRCm39)	critical splice acceptor site	probably null
R8893:Rinl	UTSW	7	28,491,747 (GRCm39)	missense	probably damaging	1.00
R9145:Rinl	UTSW	7	28,495,089 (GRCm39)	missense
R9168:Rinl	UTSW	7	28,490,084 (GRCm39)	missense	possibly damaging	0.82
RF044:Rinl	UTSW	7	28,496,988 (GRCm39)	missense	probably damaging	1.00
X0023:Rinl	UTSW	7	28,489,830 (GRCm39)	missense	probably benign
X0066:Rinl	UTSW	7	28,491,768 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCAGCTTTCCACTATGACC -3'
(R):5'- AGGTGCCTTGCTATTGGAAAGAC -3'

Sequencing Primer
(F):5'- ATGACCCTTGACCTCCCGG -3'
(R):5'- TAACATTCATACTCGGGGGC -3'

Posted On

2015-05-15