Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03345:Rinl'

417423

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rinl

Ensembl Gene

ENSMUSG00000051735

Gene Name

Ras and Rab interactor-like

Synonyms

9930116N10Rik, 5830482F20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03345

Quality Score

Status

Chromosome

Chromosomal Location

28488394-28498388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28496222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 401 (E401G)

Ref Sequence

ENSEMBL: ENSMUSP00000146576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059857] [ENSMUST00000209035]

AlphaFold

Q80UW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059857
AA Change: E401G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735
AA Change: E401G

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

noncoding transcript
Transcript: ENSMUST00000207345

Predicted Effect

probably benign
Transcript: ENSMUST00000207462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208149

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209035
AA Change: E401G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,250,163 (GRCm39)	W987R	probably damaging	Het
Adcy5	T	C	16: 35,069,184 (GRCm39)	V384A	probably benign	Het
Akap12	T	C	10: 4,306,697 (GRCm39)	V1169A	probably benign	Het
Atp8a2	T	C	14: 60,011,460 (GRCm39)	T950A	probably benign	Het
Avil	T	C	10: 126,844,826 (GRCm39)		probably benign	Het
Bccip	A	G	7: 133,311,220 (GRCm39)	D45G	probably benign	Het
Bcl9	A	G	3: 97,116,508 (GRCm39)	S729P	probably benign	Het
C3	T	A	17: 57,526,585 (GRCm39)	I799F	probably damaging	Het
Cstf2	C	T	X: 132,961,794 (GRCm39)	R80C	probably damaging	Het
Degs1l	A	T	1: 180,882,937 (GRCm39)	H233L	probably benign	Het
Dock7	A	G	4: 98,873,056 (GRCm39)	F1130S	possibly damaging	Het
Elapor1	A	G	3: 108,399,332 (GRCm39)	V86A	possibly damaging	Het
Fat2	C	T	11: 55,173,187 (GRCm39)	D2509N	probably damaging	Het
Fut10	T	C	8: 31,750,069 (GRCm39)	S452P	probably damaging	Het
Gabrb1	T	A	5: 72,293,908 (GRCm39)	M394K	possibly damaging	Het
Gkn3	T	A	6: 87,365,798 (GRCm39)	E7V	probably null	Het
Gpld1	G	A	13: 25,171,007 (GRCm39)	G803R	probably damaging	Het
Hipk2	A	G	6: 38,724,937 (GRCm39)		probably benign	Het
Kcnu1	A	T	8: 26,371,321 (GRCm39)		probably benign	Het
Kidins220	A	T	12: 25,053,044 (GRCm39)	S445C	probably damaging	Het
Ltbp1	A	G	17: 75,373,154 (GRCm39)	K266E	probably damaging	Het
Myh4	A	T	11: 67,146,304 (GRCm39)	D1454V	probably damaging	Het
Nrf1	A	C	6: 30,089,947 (GRCm39)	T9P	probably damaging	Het
Nt5dc1	T	C	10: 34,200,458 (GRCm39)	E187G	probably benign	Het
Obscn	T	A	11: 58,886,308 (GRCm39)		probably benign	Het
Pkd2l2	T	C	18: 34,558,142 (GRCm39)	Y274H	probably damaging	Het
Rgs8	A	G	1: 153,568,556 (GRCm39)	K149R	probably benign	Het
Rsbn1	A	G	3: 103,822,466 (GRCm39)	R234G	possibly damaging	Het
Slc6a3	A	G	13: 73,719,633 (GRCm39)	D554G	probably benign	Het
Slc7a2	A	G	8: 41,369,530 (GRCm39)	S646G	probably benign	Het
Syt5	A	G	7: 4,545,206 (GRCm39)	V231A	probably benign	Het
Timeless	T	G	10: 128,083,455 (GRCm39)	S695A	probably benign	Het
Tmem131l	G	A	3: 83,868,896 (GRCm39)	P160S	probably damaging	Het
Tspear	C	A	10: 77,710,716 (GRCm39)		probably null	Het
Ubn1	T	A	16: 4,899,828 (GRCm39)	H1113Q	probably damaging	Het
Vmn2r49	T	G	7: 9,718,621 (GRCm39)	K481T	probably damaging	Het
Xdh	T	C	17: 74,213,027 (GRCm39)	N872S	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
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
R4062:Rinl	UTSW	7	28,490,140 (GRCm39)	missense	probably benign
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

Posted On

2016-08-02