Mutagenetix > Incidental Mutation

Incidental Mutation 'R8515:Rab35'

656077

Institutional Source

Beutler Lab

Gene Symbol

Rab35

Ensembl Gene

ENSMUSG00000029518

Gene Name

RAB35, member RAS oncogene family

Synonyms

RAB1C, 9530019H02Rik, H-ray

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115631908-115647736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115643408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 90 (V90I)

Ref Sequence

ENSEMBL: ENSMUSP00000031492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031492] [ENSMUST00000055408] [ENSMUST00000118576] [ENSMUST00000121746] [ENSMUST00000138885]

AlphaFold

Q6PHN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031492
AA Change: V90I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031492
Gene: ENSMUSG00000029518
AA Change: V90I

Domain	Start	End	E-Value	Type
RAB	9	171	5.07e-89	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055408

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609

Domain	Start	End	E-Value	Type
low complexity region	47	68	N/A	INTRINSIC
Pfam:HAP1_N	97	162	2e-11	PFAM
low complexity region	305	316	N/A	INTRINSIC
low complexity region	336	374	N/A	INTRINSIC
low complexity region	389	410	N/A	INTRINSIC
coiled coil region	467	529	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118576

SMART Domains

Protein: ENSMUSP00000112842
Gene: ENSMUSG00000041609

Domain	Start	End	E-Value	Type
coiled coil region	5	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121746

SMART Domains

Protein: ENSMUSP00000112949
Gene: ENSMUSG00000041609

Domain	Start	End	E-Value	Type
coiled coil region	5	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138885

SMART Domains

Protein: ENSMUSP00000138402
Gene: ENSMUSG00000029518

Domain	Start	End	E-Value	Type
Pfam:Ras	10	42	1e-8	PFAM
Pfam:Miro	10	46	7.5e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	A	10: 82,288,602	D2858V	probably benign	Het
Aak1	A	G	6: 86,925,130	M94V	possibly damaging	Het
Acss3	A	G	10: 106,948,663	I566T	possibly damaging	Het
Adcy3	T	C	12: 4,212,187	V1080A	probably damaging	Het
Aldh1b1	C	T	4: 45,803,818	T452I	probably damaging	Het
Bptf	A	T	11: 107,055,238	S2392T	possibly damaging	Het
Ccnb2	A	G	9: 70,413,100		probably null	Het
Clec4a4	T	A	6: 123,004,023	Y72N	probably benign	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coro2a	ACCAGAAGAGCCATCCAG	ACCAG	4: 46,544,117		probably null	Het
Ctbs	T	A	3: 146,458,813	Y240*	probably null	Het
Cyp2d22	T	C	15: 82,373,912	D169G	probably benign	Het
Dnah11	C	T	12: 117,975,798	V3196I	probably damaging	Het
Fam110b	T	C	4: 5,799,380	V266A	probably benign	Het
Fbxo40	A	G	16: 36,970,653	S32P	probably damaging	Het
Gm4787	T	A	12: 81,377,269	H705L	probably benign	Het
Grik1	A	T	16: 87,923,282	Y702*	probably null	Het
Hao2	A	T	3: 98,883,647	N70K	probably benign	Het
Heatr4	A	G	12: 83,954,704	I888T	probably damaging	Het
Herc4	T	A	10: 63,315,786	N935K	probably benign	Het
Kdm3b	G	T	18: 34,793,076	A90S	probably benign	Het
Kif3b	C	T	2: 153,316,507	T76M	probably damaging	Het
Kmo	A	T	1: 175,647,152	H134L	probably damaging	Het
Lama3	C	A	18: 12,411,631	Q344K	probably null	Het
Man2a2	A	T	7: 80,368,290	F211I	possibly damaging	Het
Mmp19	T	C	10: 128,795,602	I189T	probably benign	Het
Muc4	G	A	16: 32,755,255	G1710S	unknown	Het
Myo15b	G	A	11: 115,858,784	G127S		Het
Naca	T	C	10: 128,044,243	S1715P	possibly damaging	Het
Ndufs4	T	C	13: 114,288,803	N163S	probably damaging	Het
Nim1k	G	A	13: 119,712,450	R303*	probably null	Het
Nkx6-3	A	T	8: 23,153,691	Y36F	possibly damaging	Het
Osbpl10	C	A	9: 115,176,068	Q188K	probably benign	Het
Pak6	G	T	2: 118,689,997	R156S	probably benign	Het
Pcf11	T	A	7: 92,658,790	K723N	possibly damaging	Het
Pcnx	A	G	12: 81,962,716	Y546C	possibly damaging	Het
Pik3r6	A	G	11: 68,539,957	Y528C	probably damaging	Het
Ppp3cb	T	A	14: 20,531,776	N57I	probably benign	Het
Preb	A	G	5: 30,959,378	L57P	probably damaging	Het
Prkdc	A	G	16: 15,664,368	D425G	probably damaging	Het
Rab3gap2	G	C	1: 185,262,820	S852T	probably benign	Het
Rcn1	C	T	2: 105,389,119	R243Q	probably null	Het
Rom1	A	G	19: 8,929,101	S25P	probably damaging	Het
Shank3	C	A	15: 89,503,572	Y286*	probably null	Het
Sis	T	A	3: 72,929,409	I837L	probably benign	Het
Ski	T	C	4: 155,160,626	S388G	possibly damaging	Het
Skint1	T	C	4: 112,010,724	F16S	probably benign	Het
Slc22a21	T	G	11: 53,956,078	D323A	possibly damaging	Het
Slc40a1	G	A	1: 45,912,307	T230I	probably damaging	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spata31d1c	G	T	13: 65,033,177	S30I	probably damaging	Het
Spdl1	G	A	11: 34,813,425	T527I	possibly damaging	Het
Sptb	A	T	12: 76,612,041	L1240Q	probably benign	Het
Tef	T	A	15: 81,802,836	V18D	possibly damaging	Het
Uckl1	T	C	2: 181,574,487	D155G	probably damaging	Het
Vmn1r215	A	G	13: 23,075,867	I26V	probably benign	Het
Wac	A	G	18: 7,871,606	M46V	probably benign	Het
Wbp1	C	T	6: 83,119,885	G146D	probably damaging	Het
Zfand2a	A	C	5: 139,473,791	S147A	probably benign	Het
Zfhx4	A	T	3: 5,399,474	Y1589F	probably benign	Het
Zfp345	G	C	2: 150,472,428	D396E	probably benign	Het

Other mutations in Rab35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0502:Rab35	UTSW	5	115645664	missense	probably benign	0.02
R1858:Rab35	UTSW	5	115640088	missense	probably damaging	0.98
R1879:Rab35	UTSW	5	115640160	missense	probably damaging	1.00
R4480:Rab35	UTSW	5	115637764	nonsense	probably null
R4824:Rab35	UTSW	5	115643395	missense	possibly damaging	0.95
R4937:Rab35	UTSW	5	115640088	missense	probably damaging	0.96
R6062:Rab35	UTSW	5	115640088	missense	probably damaging	0.98
R6126:Rab35	UTSW	5	115645708	missense	probably benign	0.00
R8554:Rab35	UTSW	5	115645631	critical splice acceptor site	probably null
R9256:Rab35	UTSW	5	115640187	missense	probably damaging	1.00
R9760:Rab35	UTSW	5	115640165	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCACCCTGGACTGTTAGCTG -3'
(R):5'- TTGCCCACTTTAAGACAAAGC -3'

Sequencing Primer
(F):5'- ACTGTTAGCTGCCAGGGACAG -3'
(R):5'- TTTAAGACAAAGCAGAGTCACCCG -3'

Posted On

2020-10-20