Mutagenetix > Incidental Mutation

Incidental Mutation 'R9218:Rab37'

699328

Institutional Source

Beutler Lab

Gene Symbol

Rab37

Ensembl Gene

ENSMUSG00000020732

Gene Name

RAB37, member RAS oncogene family

Synonyms

B230354I04Rik, B230331O03Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114982257-115053062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115051475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 194 (R194H)

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 damaging
Transcript: ENSMUST00000021076
AA Change: R194H

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

SMART Domains

Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732
AA Change: R194H

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 damaging
Transcript: ENSMUST00000067754
AA Change: R187H

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

SMART Domains

Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
AA Change: R187H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (57/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,460 (GRCm39)	T378A	probably damaging	Het
Abcb4	A	G	5: 8,977,960 (GRCm39)	M513V	probably benign	Het
Abhd18	T	C	3: 40,871,201 (GRCm39)		probably null	Het
Adamtsl4	A	T	3: 95,588,404 (GRCm39)	Y561*	probably null	Het
Alx4	T	A	2: 93,473,172 (GRCm39)	F57I	possibly damaging	Het
Ap3b1	A	G	13: 94,584,959 (GRCm39)		probably null	Het
Arsj	A	C	3: 126,232,114 (GRCm39)	N287H	probably benign	Het
Bltp3a	T	A	17: 28,114,529 (GRCm39)	C1387S	probably benign	Het
Cabp4	T	A	19: 4,188,693 (GRCm39)		probably null	Het
Cdcp3	C	T	7: 130,863,728 (GRCm39)	H1244Y	unknown	Het
Cdh6	T	C	15: 13,057,556 (GRCm39)	N255S	probably null	Het
Ctrb1	C	T	8: 112,416,140 (GRCm39)	V49M	probably damaging	Het
Cts3	A	G	13: 61,716,583 (GRCm39)	S18P	possibly damaging	Het
Dcst1	A	T	3: 89,272,412 (GRCm39)	I17N	probably benign	Het
Dennd5a	G	A	7: 109,507,592 (GRCm39)	H823Y	probably damaging	Het
Dmrt2	T	G	19: 25,651,066 (GRCm39)	L84R	possibly damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Fsip2	C	T	2: 82,823,062 (GRCm39)	P6265L	probably damaging	Het
Fxn	T	A	19: 24,239,388 (GRCm39)	K168M	probably damaging	Het
Hc	A	G	2: 34,922,203 (GRCm39)	L541P	probably damaging	Het
Hsd3b5	T	C	3: 98,526,354 (GRCm39)	H364R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Inf2	G	A	12: 112,567,858 (GRCm39)	D163N	possibly damaging	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Iqck	C	T	7: 118,540,902 (GRCm39)	A267V	probably damaging	Het
Kcnh1	A	T	1: 192,135,938 (GRCm39)	N66I	unknown	Het
Kif16b	T	A	2: 142,541,583 (GRCm39)	E1239V	possibly damaging	Het
Mctp1	A	G	13: 76,871,816 (GRCm39)	D362G	possibly damaging	Het
Muc5ac	T	A	7: 141,361,098 (GRCm39)	S1470T	probably damaging	Het
Neb	A	G	2: 52,183,638 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,312 (GRCm39)	L151*	probably null	Het
Or4e1	A	T	14: 52,700,788 (GRCm39)	V226E	probably damaging	Het
Or51f23c-ps1	T	C	7: 102,431,373 (GRCm39)	I230T	possibly damaging	Het
Otof	T	A	5: 30,542,469 (GRCm39)	Q693L	probably benign	Het
Pitpnm2	G	A	5: 124,265,344 (GRCm39)	S753F	probably damaging	Het
Pkd1l3	C	A	8: 110,382,128 (GRCm39)	S1632*	probably null	Het
Pkhd1l1	A	G	15: 44,384,122 (GRCm39)	T1171A	possibly damaging	Het
Plpp2	A	G	10: 79,366,501 (GRCm39)	F104L	probably damaging	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Pms2	G	A	5: 143,867,945 (GRCm39)	V850I	probably benign	Het
Psmd5	G	T	2: 34,747,794 (GRCm39)	Q288K	probably benign	Het
Sds	C	T	5: 120,621,677 (GRCm39)	A273V	probably damaging	Het
Sema4f	A	G	6: 82,890,480 (GRCm39)	S776P	probably benign	Het
Sh3tc2	T	C	18: 62,101,101 (GRCm39)	C65R	probably benign	Het
Siglece	C	T	7: 43,307,162 (GRCm39)	R275H	possibly damaging	Het
Slc6a12	G	A	6: 121,335,623 (GRCm39)	A318T	probably damaging	Het
Smcr8	A	T	11: 60,670,705 (GRCm39)	I618L	probably benign	Het
Stt3a	A	G	9: 36,670,556 (GRCm39)	F72L	probably damaging	Het
Tecpr1	T	C	5: 144,154,049 (GRCm39)	K135E	possibly damaging	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Tnpo2	C	A	8: 85,776,609 (GRCm39)	H439N	possibly damaging	Het
Tut4	A	T	4: 108,370,083 (GRCm39)	K661*	probably null	Het
Txlnb	C	T	10: 17,718,570 (GRCm39)	S467F	probably damaging	Het
Tyw5	G	A	1: 57,435,948 (GRCm39)	P81S	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vmn1r220	T	A	13: 23,368,609 (GRCm39)	Y29F	probably benign	Het
Vmn2r80	A	G	10: 79,030,270 (GRCm39)	T699A	possibly damaging	Het
Vps9d1	G	A	8: 123,977,674 (GRCm39)	T87I	probably benign	Het
Zfhx3	T	C	8: 109,520,501 (GRCm39)	V541A	probably benign	Het
Zmym4	A	T	4: 126,809,415 (GRCm39)	L295Q	probably damaging	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
R7539:Rab37	UTSW	11	115,051,487 (GRCm39)	missense	probably benign	0.00
R8075:Rab37	UTSW	11	114,982,759 (GRCm39)	critical splice donor site	probably null
R9296:Rab37	UTSW	11	115,045,065 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCATGGAGACCAGTGCC -3'
(R):5'- AATGGCTACTCCCTTGGCAG -3'

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

Posted On

2022-02-07