Mutagenetix > Incidental Mutation

Incidental Mutation 'R7539:Rab37'

583801

Institutional Source

Beutler Lab

Gene Symbol

Rab37

Ensembl Gene

ENSMUSG00000020732

Gene Name

RAB37, member RAS oncogene family

Synonyms

B230354I04Rik, B230331O03Rik

MMRRC Submission

045611-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114982257-115053062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115051487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 198 (Q198P)

Ref Sequence

ENSEMBL: ENSMUSP00000021076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021076] [ENSMUST00000021077] [ENSMUST00000067754]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021076
AA Change: Q198P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732
AA Change: Q198P

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RAB	31	194	9.38e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021077

SMART Domains

Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733

Domain	Start	End	E-Value	Type
PDZ	22	94	2.9e-20	SMART
PDZ	157	229	6.03e-18	SMART
Pfam:EBP50_C	230	355	1.4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067754
AA Change: Q191P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
AA Change: Q191P

Domain	Start	End	E-Value	Type
RAB	23	187	1.27e-89	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Abcf3	T	C	16: 20,371,382 (GRCm39)		probably null	Het
Agbl1	T	C	7: 76,075,677 (GRCm39)		probably null	Het
Ap5m1	C	A	14: 49,311,014 (GRCm39)	P28Q	probably damaging	Het
Bet1l	T	C	7: 140,434,457 (GRCm39)	D83G	probably benign	Het
Birc6	T	C	17: 74,956,691 (GRCm39)	S3571P	probably damaging	Het
Bod1l	A	T	5: 41,975,203 (GRCm39)	M2037K	possibly damaging	Het
Ccdc80	A	T	16: 44,915,445 (GRCm39)	E67V	probably benign	Het
Cep112	A	G	11: 108,746,654 (GRCm39)	M133V	probably benign	Het
Ckmt2	C	A	13: 92,008,063 (GRCm39)	D224Y	probably damaging	Het
Cplane1	A	G	15: 8,230,728 (GRCm39)	I1002V	probably benign	Het
Crb1	T	G	1: 139,175,967 (GRCm39)	K672T	probably damaging	Het
Dnhd1	T	C	7: 105,370,119 (GRCm39)	S4515P	probably damaging	Het
Dock9	A	G	14: 121,818,848 (GRCm39)	S1545P	probably damaging	Het
Dop1a	T	G	9: 86,403,626 (GRCm39)	S145A	probably benign	Het
Eps8l1	T	C	7: 4,473,036 (GRCm39)	S92P	probably damaging	Het
Faap100	T	C	11: 120,268,464 (GRCm39)	D103G	possibly damaging	Het
Fech	T	A	18: 64,616,565 (GRCm39)		probably null	Het
Folh1	T	A	7: 86,375,117 (GRCm39)	E623V	probably benign	Het
Galnt5	T	C	2: 57,925,242 (GRCm39)	L841P	probably damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10577	C	T	4: 100,877,893 (GRCm39)	V1I	unknown	Het
Grip1	T	A	10: 119,890,776 (GRCm39)	H938Q	probably benign	Het
Gucy2g	G	A	19: 55,191,586 (GRCm39)	A955V	probably damaging	Het
Hpd	G	C	5: 123,316,255 (GRCm39)	Y165*	probably null	Het
Iqsec1	C	A	6: 90,639,873 (GRCm39)	R955L	probably benign	Het
Masp1	A	T	16: 23,289,128 (GRCm39)	H557Q	possibly damaging	Het
Muc4	C	T	16: 32,576,770 (GRCm39)	T20M		Het
Myo16	T	C	8: 10,411,095 (GRCm39)		probably null	Het
Nfkb2	T	C	19: 46,296,662 (GRCm39)	F273L	possibly damaging	Het
Nherf2	G	T	17: 24,860,873 (GRCm39)	A223D	probably damaging	Het
Or11l3	A	T	11: 58,516,782 (GRCm39)	I29N	probably damaging	Het
Or1l8	T	C	2: 36,817,221 (GRCm39)	R302G	probably benign	Het
Or2a56	T	C	6: 42,933,037 (GRCm39)	C202R	possibly damaging	Het
Or4k49	T	C	2: 111,494,778 (GRCm39)	V69A	possibly damaging	Het
Or52ab7	A	G	7: 102,977,701 (GRCm39)	S3G	probably benign	Het
Or52e3	T	C	7: 102,869,273 (GRCm39)	V116A	possibly damaging	Het
Or5b124	C	T	19: 13,610,933 (GRCm39)	Q153*	probably null	Het
Or6c2	A	T	10: 129,362,974 (GRCm39)	K293*	probably null	Het
Or6c69	T	C	10: 129,747,932 (GRCm39)	T72A	probably damaging	Het
Or7e174	A	T	9: 20,012,915 (GRCm39)	M287L	probably benign	Het
Parp4	T	A	14: 56,873,212 (GRCm39)	I1152N	probably damaging	Het
Peg3	T	C	7: 6,711,167 (GRCm39)	T1352A	probably benign	Het
Pik3c2a	T	C	7: 115,939,331 (GRCm39)	N1669S	probably damaging	Het
Pinx1	A	T	14: 64,156,655 (GRCm39)	Q194L	probably benign	Het
Podxl2	A	C	6: 88,826,311 (GRCm39)	S268A	probably benign	Het
Polr2c	C	A	8: 95,597,407 (GRCm39)	H363N	unknown	Het
Prlr	C	T	15: 10,329,109 (GRCm39)	T528I	probably benign	Het
Rrm2b	T	A	15: 37,937,595 (GRCm39)		probably null	Het
Serpina3b	T	C	12: 104,096,970 (GRCm39)	S84P	possibly damaging	Het
Stat4	A	T	1: 52,110,868 (GRCm39)		probably null	Het
Them6	T	C	15: 74,595,349 (GRCm39)	I185T	probably damaging	Het
Tmco4	T	A	4: 138,749,010 (GRCm39)	M316K	probably benign	Het
Tmtc4	G	T	14: 123,215,701 (GRCm39)		probably null	Het
Tnni3k	A	T	3: 154,667,668 (GRCm39)	N248K	probably benign	Het
Trim43a	T	A	9: 88,465,096 (GRCm39)	L141Q	probably benign	Het
Utp20	C	T	10: 88,627,607 (GRCm39)	V953M	probably damaging	Het
Vmn2r118	T	A	17: 55,899,853 (GRCm39)	T684S	probably damaging	Het
Wasl	A	T	6: 24,619,197 (GRCm39)	I441N	unknown	Het
Wfikkn2	T	C	11: 94,133,185 (GRCm39)	D64G	probably damaging	Het
Zfp128	C	A	7: 12,624,479 (GRCm39)	Y282*	probably null	Het

Other mutations in Rab37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02057:Rab37	APN	11	115,051,543 (GRCm39)	missense	probably benign	0.00
IGL03278:Rab37	APN	11	115,050,517 (GRCm39)	missense	possibly damaging	0.59
R0051:Rab37	UTSW	11	115,049,491 (GRCm39)	missense	probably damaging	1.00
R0360:Rab37	UTSW	11	115,047,790 (GRCm39)	missense	probably damaging	1.00
R0364:Rab37	UTSW	11	115,047,790 (GRCm39)	missense	probably damaging	1.00
R0592:Rab37	UTSW	11	115,051,349 (GRCm39)	splice site	probably benign
R0639:Rab37	UTSW	11	115,049,528 (GRCm39)	missense	probably benign	0.04
R1958:Rab37	UTSW	11	115,051,177 (GRCm39)	missense	probably damaging	1.00
R4301:Rab37	UTSW	11	115,049,390 (GRCm39)	missense	possibly damaging	0.53
R5423:Rab37	UTSW	11	115,047,853 (GRCm39)	missense	possibly damaging	0.63
R6196:Rab37	UTSW	11	115,051,132 (GRCm39)	missense	probably benign	0.30
R6488:Rab37	UTSW	11	115,048,789 (GRCm39)	missense	probably benign	0.01
R8075:Rab37	UTSW	11	114,982,759 (GRCm39)	critical splice donor site	probably null
R9218:Rab37	UTSW	11	115,051,475 (GRCm39)	missense	probably damaging	1.00
R9296:Rab37	UTSW	11	115,045,065 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATGGAGACCAGTGCCAAG -3'
(R):5'- TAATGGCTACTCCCTTGGCAG -3'

Sequencing Primer
(F):5'- CATGAACGTGGAGTTGGCC -3'
(R):5'- AGGGGCTGCCCACTGAG -3'

Posted On

2019-10-17