Mutagenetix > Incidental Mutation

Incidental Mutation 'R9774:Rab5b'

733594

Institutional Source

Beutler Lab

Gene Symbol

Rab5b

Ensembl Gene

ENSMUSG00000000711

Gene Name

RAB5B, member RAS oncogene family

Synonyms

C030027M18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9774 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128513044-128532133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128522658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 41 (V41A)

Ref Sequence

ENSEMBL: ENSMUSP00000000727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000727]

AlphaFold

P61021

Predicted Effect

probably benign
Transcript: ENSMUST00000000727
AA Change: V41A

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000000727
Gene: ENSMUSG00000000711
AA Change: V41A

Domain	Start	End	E-Value	Type
RAB	21	184	1.7e-90	SMART
low complexity region	204	215	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	A	C	7: 30,399,261 (GRCm39)	Q18H	possibly damaging	Het
Adam23	C	T	1: 63,585,583 (GRCm39)	T390I	probably benign	Het
Adh7	T	A	3: 137,929,847 (GRCm39)	C174*	probably null	Het
Brip1	A	G	11: 86,077,838 (GRCm39)	S197P	possibly damaging	Het
Ccdc146	G	T	5: 21,506,247 (GRCm39)	D731E	probably benign	Het
Cfi	T	C	3: 129,668,645 (GRCm39)	V557A	probably damaging	Het
Col4a4	A	T	1: 82,484,665 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,299,093 (GRCm39)	I424V	unknown	Het
Cubn	C	T	2: 13,433,530 (GRCm39)	V1127I	probably benign	Het
Ehhadh	T	C	16: 21,581,976 (GRCm39)	T339A	probably benign	Het
Ezh2	T	A	6: 47,519,315 (GRCm39)	I506L	probably benign	Het
Fbxw21	T	C	9: 108,991,057 (GRCm39)	M1V	probably null	Het
Herc1	T	A	9: 66,372,032 (GRCm39)	V567E	probably null	Het
Hrh1	A	T	6: 114,457,241 (GRCm39)	E174V	probably benign	Het
Il12rb1	A	G	8: 71,272,040 (GRCm39)	S585G	possibly damaging	Het
Kcnq4	C	A	4: 120,573,076 (GRCm39)	A242S	probably damaging	Het
Ltbp3	A	G	19: 5,804,014 (GRCm39)	N842S	probably benign	Het
Mbd1	A	G	18: 74,408,274 (GRCm39)	Q309R	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mroh2b	T	C	15: 4,943,613 (GRCm39)	I383T	probably benign	Het
Mrto4	T	C	4: 139,075,287 (GRCm39)	D172G	probably benign	Het
Muc2	T	G	7: 141,285,811 (GRCm39)	S19A	probably benign	Het
Ndufb2	T	C	6: 39,575,301 (GRCm39)		probably null	Het
Npas3	A	T	12: 53,994,108 (GRCm39)	T246S	probably damaging	Het
Or8u8	C	T	2: 86,012,015 (GRCm39)	V147M	possibly damaging	Het
Pappa2	T	A	1: 158,675,920 (GRCm39)	N942I	probably damaging	Het
Pdzph1	A	G	17: 59,281,751 (GRCm39)	V177A	probably benign	Het
Rnf111	T	C	9: 70,334,303 (GRCm39)	D980G	probably damaging	Het
Rreb1	A	G	13: 38,114,185 (GRCm39)	T515A	probably benign	Het
Rsf1	GCGGC	GCGGCGGCGTCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Serpinb13	T	A	1: 106,923,579 (GRCm39)	F95I	probably benign	Het
Sgsm3	C	T	15: 80,890,673 (GRCm39)	R76C	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Slc22a6	T	C	19: 8,603,134 (GRCm39)	V494A	probably benign	Het
Spag9	A	G	11: 94,005,062 (GRCm39)	E1182G	probably damaging	Het
Spata13	T	C	14: 60,944,196 (GRCm39)	S530P	probably benign	Het
Spatc1l	A	G	10: 76,405,168 (GRCm39)		probably null	Het
Spg11	A	G	2: 121,938,965 (GRCm39)	S330P	probably damaging	Het
Stau2	A	T	1: 16,445,010 (GRCm39)	M306K	probably damaging	Het
Tcea2	C	T	2: 181,328,664 (GRCm39)	T239I	probably damaging	Het
Tlcd2	A	G	11: 75,359,131 (GRCm39)	D34G	probably damaging	Het
Tmem132a	C	T	19: 10,842,904 (GRCm39)	W190*	probably null	Het
Top3a	C	A	11: 60,638,998 (GRCm39)	V551L	probably damaging	Het
Trpm1	G	A	7: 63,898,041 (GRCm39)	E1225K	possibly damaging	Het
Tti2	A	G	8: 31,645,660 (GRCm39)	H350R	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tyw3	T	C	3: 154,302,584 (GRCm39)	D27G	probably damaging	Het
Usp36	G	A	11: 118,153,875 (GRCm39)	A1012V	probably damaging	Het
Vmn2r14	G	A	5: 109,369,126 (GRCm39)	T149I	probably benign	Het
Vps13c	T	A	9: 67,791,873 (GRCm39)	S380T	possibly damaging	Het

Other mutations in Rab5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0038:Rab5b	UTSW	10	128,518,772 (GRCm39)	missense	probably benign	0.05
R0097:Rab5b	UTSW	10	128,518,809 (GRCm39)	missense	probably damaging	1.00
R0097:Rab5b	UTSW	10	128,518,809 (GRCm39)	missense	probably damaging	1.00
R0276:Rab5b	UTSW	10	128,522,615 (GRCm39)	critical splice donor site	probably null
R0366:Rab5b	UTSW	10	128,518,772 (GRCm39)	missense	probably benign	0.05
R0367:Rab5b	UTSW	10	128,518,772 (GRCm39)	missense	probably benign	0.05
R0368:Rab5b	UTSW	10	128,518,772 (GRCm39)	missense	probably benign	0.05
R1120:Rab5b	UTSW	10	128,515,483 (GRCm39)	missense	probably benign	0.02
R1645:Rab5b	UTSW	10	128,522,695 (GRCm39)	missense	possibly damaging	0.95
R4624:Rab5b	UTSW	10	128,519,130 (GRCm39)	missense	probably benign	0.27
R7107:Rab5b	UTSW	10	128,519,062 (GRCm39)	critical splice donor site	probably null
R7645:Rab5b	UTSW	10	128,517,260 (GRCm39)	missense	possibly damaging	0.95
R8496:Rab5b	UTSW	10	128,518,776 (GRCm39)	nonsense	probably null
R8744:Rab5b	UTSW	10	128,518,751 (GRCm39)	missense	probably damaging	1.00
R9211:Rab5b	UTSW	10	128,519,063 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTTTAGGAAAGAAGCGCCTCAC -3'
(R):5'- ACTGTTGAGGCCTGGAAGTC -3'

Sequencing Primer
(F):5'- TTAAAGGCGTGCATCACCATG -3'
(R):5'- AGGCCTGGAAGTCCCTCC -3'

Posted On

2022-11-14