Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:Rab36'

660613

Institutional Source

Beutler Lab

Gene Symbol

Rab36

Ensembl Gene

ENSMUSG00000020175

Gene Name

RAB36, member RAS oncogene family

Synonyms

MMRRC Submission

067806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74872890-74890580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74884291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 114 (A114T)

Ref Sequence

ENSEMBL: ENSMUSP00000119399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020391] [ENSMUST00000139384] [ENSMUST00000146440] [ENSMUST00000147802]

AlphaFold

Q8CAM5

Predicted Effect

probably benign
Transcript: ENSMUST00000020391

SMART Domains

Protein: ENSMUSP00000020391
Gene: ENSMUSG00000020175

Domain	Start	End	E-Value	Type
RAB	59	224	6.4e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000139384
AA Change: A80T

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

SMART Domains

Protein: ENSMUSP00000118718
Gene: ENSMUSG00000020175
AA Change: A80T

Domain	Start	End	E-Value	Type
Pfam:Arf	42	134	6.3e-8	PFAM
Pfam:Ras	74	134	1.1e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146440
AA Change: A114T

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

SMART Domains

Protein: ENSMUSP00000121693
Gene: ENSMUSG00000020175
AA Change: A114T

Domain	Start	End	E-Value	Type
RAB	59	224	6.4e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000147802
AA Change: A114T

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

SMART Domains

Protein: ENSMUSP00000119399
Gene: ENSMUSG00000020175
AA Change: A114T

Domain	Start	End	E-Value	Type
RAB	59	224	6.4e-45	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,676,297 (GRCm39)	S353R	probably damaging	Het
Ap1ar	T	C	3: 127,606,428 (GRCm39)		probably null	Het
Asxl1	C	A	2: 153,235,345 (GRCm39)	N213K	probably benign	Het
Cacna1e	A	G	1: 154,274,314 (GRCm39)	V2197A	probably damaging	Het
Cacna2d2	G	A	9: 107,401,334 (GRCm39)	E706K	possibly damaging	Het
Cfap46	C	T	7: 139,233,414 (GRCm39)	V296I	probably benign	Het
Cldn5	A	G	16: 18,596,043 (GRCm39)	T100A	probably benign	Het
Ctnna1	C	A	18: 35,385,776 (GRCm39)	N802K	possibly damaging	Het
Dennd2b	G	A	7: 109,124,755 (GRCm39)	R675*	probably null	Het
Dip2c	A	G	13: 9,671,918 (GRCm39)	T968A	probably benign	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,147,614 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,862,234 (GRCm39)	D203V	probably benign	Het
Dnajc13	A	G	9: 104,094,927 (GRCm39)	M585T	probably damaging	Het
Donson	G	T	16: 91,480,685 (GRCm39)	T262K	possibly damaging	Het
E2f3	T	A	13: 30,169,787 (GRCm39)		probably benign	Het
Fam110c	A	G	12: 31,125,178 (GRCm39)	E380G	possibly damaging	Het
Gbp9	T	G	5: 105,242,027 (GRCm39)	T177P	probably damaging	Het
Gins3	C	T	8: 96,364,646 (GRCm39)	A132V	probably benign	Het
Glra3	T	A	8: 56,578,345 (GRCm39)	Y467*	probably null	Het
Gm7138	A	G	10: 77,612,444 (GRCm39)		probably benign	Het
Golim4	T	C	3: 75,802,308 (GRCm39)	E328G	probably damaging	Het
Habp2	T	A	19: 56,301,388 (GRCm39)	C270*	probably null	Het
Hecw2	A	G	1: 53,964,467 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,634,142 (GRCm39)	Y815N	possibly damaging	Het
Igfn1	A	T	1: 135,887,619 (GRCm39)	C2482S	possibly damaging	Het
Igkv4-71	A	G	6: 69,220,260 (GRCm39)	V57A	probably damaging	Het
Itpkb	G	A	1: 180,160,908 (GRCm39)	E345K	possibly damaging	Het
Itpr3	G	A	17: 27,334,893 (GRCm39)	V2136M	possibly damaging	Het
Kcnh3	A	G	15: 99,127,211 (GRCm39)	T336A	probably damaging	Het
Kdm4d	T	C	9: 14,375,235 (GRCm39)	T208A	possibly damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Krt10	A	G	11: 99,280,086 (GRCm39)		probably benign	Het
Lgals3bp	T	A	11: 118,289,367 (GRCm39)	N28I	probably damaging	Het
Matn2	T	C	15: 34,378,843 (GRCm39)	L293P	probably damaging	Het
Mical3	T	C	6: 120,950,381 (GRCm39)	E1010G	probably damaging	Het
Mpp4	C	A	1: 59,169,224 (GRCm39)	R380L	probably damaging	Het
Msh5	A	G	17: 35,250,742 (GRCm39)	F469L	possibly damaging	Het
Ncam2	A	G	16: 81,309,847 (GRCm39)	T446A	probably benign	Het
Neurl4	A	G	11: 69,800,062 (GRCm39)	D1050G	probably damaging	Het
Olfml2b	T	C	1: 170,509,793 (GRCm39)	Y714H	possibly damaging	Het
Or5d43	T	C	2: 88,105,036 (GRCm39)	D119G	probably damaging	Het
Or8c17	T	C	9: 38,180,513 (GRCm39)	S235P	probably benign	Het
Pcnx2	T	C	8: 126,488,357 (GRCm39)	E1729G	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,681,707 (GRCm39)	L1051Q	probably damaging	Het
Prkag2	T	A	5: 25,074,137 (GRCm39)	R283*	probably null	Het
Prrc1	T	A	18: 57,504,503 (GRCm39)	M238K	probably damaging	Het
Ptprj	T	C	2: 90,300,061 (GRCm39)	T247A	probably benign	Het
Ptprz1	A	G	6: 22,999,614 (GRCm39)	Y568C	probably damaging	Het
Rfx7	T	C	9: 72,526,731 (GRCm39)	V1307A	probably benign	Het
Scaf1	A	C	7: 44,657,251 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,866 (GRCm39)	T440S	probably benign	Het
Setbp1	A	T	18: 78,900,598 (GRCm39)	V1023E	probably damaging	Het
Slc46a2	T	C	4: 59,913,931 (GRCm39)	I331V	possibly damaging	Het
Slc4a7	C	T	14: 14,786,313 (GRCm38)	R1000C	probably damaging	Het
Sorcs2	T	C	5: 36,222,753 (GRCm39)	H162R	probably benign	Het
Spata31f1e	T	A	4: 42,793,223 (GRCm39)	H303L	probably benign	Het
Strip2	G	A	6: 29,920,531 (GRCm39)		probably null	Het
Stx2	T	A	5: 129,071,932 (GRCm39)	I42L	probably benign	Het
Tas2r124	A	T	6: 132,732,410 (GRCm39)	T240S	probably benign	Het
Tgfbrap1	A	T	1: 43,115,070 (GRCm39)	V10D	probably damaging	Het
Tmem41a	T	A	16: 21,766,181 (GRCm39)	Y19F	probably benign	Het
Tmprss5	A	G	9: 49,018,439 (GRCm39)	T74A	possibly damaging	Het
Trim16	G	T	11: 62,727,587 (GRCm39)	R216L	probably benign	Het
Trmt10c	T	C	16: 55,854,870 (GRCm39)	K255R	probably benign	Het
Trpm2	A	T	10: 77,769,483 (GRCm39)	V747E	probably damaging	Het
Ube2v2	T	C	16: 15,399,005 (GRCm39)	D28G	possibly damaging	Het
Uty	G	A	Y: 1,157,928 (GRCm39)	T705I	possibly damaging	Het
Vmn2r80	A	T	10: 78,984,710 (GRCm39)	I21F	probably benign	Het
Wdr11	T	C	7: 129,204,723 (GRCm39)	L176S	probably damaging	Het
Zfp992	A	G	4: 146,551,319 (GRCm39)	T347A	probably benign	Het

Other mutations in Rab36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Rab36	APN	10	74,884,298 (GRCm39)	missense	probably damaging	1.00
IGL01554:Rab36	APN	10	74,886,520 (GRCm39)	missense	possibly damaging	0.50
IGL02197:Rab36	APN	10	74,887,874 (GRCm39)	missense	probably damaging	0.96
R2022:Rab36	UTSW	10	74,888,306 (GRCm39)	missense	probably benign	0.13
R2907:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R2991:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3012:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3033:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3034:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3035:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3036:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3440:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3686:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3687:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R3688:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4398:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4426:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4427:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4433:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4456:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4457:Rab36	UTSW	10	74,880,328 (GRCm39)	missense	probably damaging	1.00
R4467:Rab36	UTSW	10	74,887,875 (GRCm39)	nonsense	probably null
R4689:Rab36	UTSW	10	74,877,765 (GRCm39)	critical splice donor site	probably null
R5043:Rab36	UTSW	10	74,886,837 (GRCm39)	missense	probably benign	0.00
R5568:Rab36	UTSW	10	74,888,311 (GRCm39)	missense	probably benign
R8523:Rab36	UTSW	10	74,888,335 (GRCm39)	missense	probably benign
R9594:Rab36	UTSW	10	74,887,873 (GRCm39)	missense	probably damaging	0.96
R9703:Rab36	UTSW	10	74,886,474 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GCACTGTGATCTGAGGAAAGAATC -3'
(R):5'- GTGGCTTCTTCATTCCTAAGCG -3'

Sequencing Primer
(F):5'- TGTGATCTGAGGAAAGAATCTAGCAG -3'
(R):5'- TCATTCCTAAGCGCTGGC -3'

Posted On

2021-01-18