Mutagenetix > Incidental Mutation

Incidental Mutation 'RF044:Rinl'

604959

Institutional Source

Beutler Lab

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 #

RF044 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

28488394-28498388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28496988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 496 (G496V)

Ref Sequence

ENSEMBL: ENSMUSP00000058447 (fasta)

Gene Model

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

AlphaFold

Q80UW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000059857
AA Change: G496V

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

SMART Domains

Protein: ENSMUSP00000058447
Gene: ENSMUSG00000051735
AA Change: G496V

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 damaging
Transcript: ENSMUST00000209035
AA Change: G496V

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TG	TGTGGCTGCCG	1: 82,891,310 (GRCm39)		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCATCC	7: 80,162,678 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,296 (GRCm39)		probably null	Het
Ccdc85c	GCC	GCCACC	12: 108,240,871 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,655 (GRCm39)		probably benign	Het
Crtam	TTCTTGATCTGAA	T	9: 40,895,650 (GRCm39)		probably null	Het
Dspp	TGACAGCAGCGACAGCAG	TGACAGCAGCGACAGCAGAGACAGCAGCGACAGCAG	5: 104,326,290 (GRCm39)		probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,079 (GRCm39)		probably benign	Het
F830016B08Rik	AAAAAA	AAAAAAAAA	18: 60,433,010 (GRCm39)		probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,611 (GRCm39)		probably benign	Het
Gabre	CTC	CTCCGGATC	X: 71,313,667 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Haus4	AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG	AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG	14: 54,781,577 (GRCm39)		probably null	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 67,875,927 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATCG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGACACAG	1: 83,019,852 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCCAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAAGCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,774 (GRCm39)		probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Morn4	GTGAG	GTGAGTCAAGCATTGAG	19: 42,064,553 (GRCm39)		probably null	Het
Nefh	CCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG	11: 4,891,021 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,891,016 (GRCm39)		probably benign	Het
Nefh	TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,023 (GRCm39)		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,069,810 (GRCm39)		probably benign	Het
Or10n7-ps1	AAAATA	AAAATAAATA	9: 39,598,043 (GRCm39)		probably null	Het
Phc1	TG	TGCTGCGG	6: 122,300,559 (GRCm39)		probably benign	Het
Pla2g4e	AGGG	A	2: 120,075,205 (GRCm39)		probably benign	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,266,273 (GRCm39)		probably benign	Het
Ptdss1	G	T	13: 67,093,412 (GRCm39)	S84I	possibly damaging	Het
Ren1	ACCGC	AC	1: 133,278,519 (GRCm39)		probably benign	Het
Ryr3	CTGA	C	2: 112,740,869 (GRCm39)		probably benign	Het
Sbp	A	AAAAAGATGATGACAC	17: 24,164,340 (GRCm39)		probably benign	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCACTGTGTTC	15: 76,499,070 (GRCm39)		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846 (GRCm39)		probably benign	Het
Spaca1	TCGC	TCGCTCGCGC	4: 34,049,854 (GRCm39)		probably benign	Het
Spmap2l	ATCCTCCCCAGTCCCGCAAGGCCAG	ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG	5: 77,164,252 (GRCm39)		probably benign	Het
Strn	C	CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTA	17: 78,984,717 (GRCm39)		probably null	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Tob1	GCA	GCAACA	11: 94,105,287 (GRCm39)		probably benign	Het
Zfp683	TGTGG	TGTGGTGG	4: 133,786,185 (GRCm39)		probably benign	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
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
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'- TGAGATGCCCAGACACTGAG -3'
(R):5'- TGCATAGCATAGGTGGTTACC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- TTACCTGGGCTGTGGGC -3'

Posted On

2019-12-04