Mutagenetix > Incidental Mutation

Incidental Mutation 'R9343:Rab7b'

731358

Institutional Source

Beutler Lab

Gene Symbol

Rab7b

Ensembl Gene

ENSMUSG00000052688

Gene Name

RAB7B, member RAS oncogene family

Synonyms

Rab7b, 5430435G22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R9343 (G1)

Quality Score

56.0072

Status

Validated

Chromosome

Chromosomal Location

131616433-131643177 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 131639540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064664] [ENSMUST00000064679] [ENSMUST00000129905] [ENSMUST00000136247]

AlphaFold

Q8VEA8

Predicted Effect

probably benign
Transcript: ENSMUST00000064664

SMART Domains

Protein: ENSMUSP00000066452
Gene: ENSMUSG00000052688

Domain	Start	End	E-Value	Type
Pfam:Arf	2	151	1e-16	PFAM
Pfam:GTP_EFTU	7	153	2.2e-6	PFAM
Pfam:Miro	10	127	1.2e-22	PFAM
Pfam:Gtr1_RagA	10	148	2.9e-8	PFAM
Pfam:Ras	10	148	3.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064679

SMART Domains

Protein: ENSMUSP00000065456
Gene: ENSMUSG00000052688

Domain	Start	End	E-Value	Type
RAB	9	174	1.22e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129905

SMART Domains

Protein: ENSMUSP00000116515
Gene: ENSMUSG00000052688

Domain	Start	End	E-Value	Type
Pfam:Ras	10	76	2.7e-14	PFAM
Pfam:Miro	10	79	3.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136247

SMART Domains

Protein: ENSMUSP00000123359
Gene: ENSMUSG00000052688

Domain	Start	End	E-Value	Type
Pfam:Ras	10	64	1.6e-13	PFAM
Pfam:Miro	10	93	1.1e-7	PFAM
Pfam:Ras	54	101	2.6e-7	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,547,505 (GRCm39)	I960V	probably benign	Het
Alpk3	A	G	7: 80,742,079 (GRCm39)	D632G	probably benign	Het
Aplp2	A	T	9: 31,122,935 (GRCm39)	L30Q	unknown	Het
Axl	A	T	7: 25,473,544 (GRCm39)	Y361N	probably damaging	Het
Brinp2	A	T	1: 158,077,090 (GRCm39)		probably benign	Het
Bsn	T	C	9: 107,992,701 (GRCm39)	D1017G	probably damaging	Het
Cc2d2a	A	T	5: 43,875,999 (GRCm39)	D1046V	probably damaging	Het
Cdc42bpg	G	A	19: 6,364,553 (GRCm39)	G594S	probably damaging	Het
Clcn6	A	G	4: 148,098,458 (GRCm39)	S519P	probably benign	Het
Cnot2	T	G	10: 116,346,326 (GRCm39)	H92P		Het
Col2a1	T	C	15: 97,877,775 (GRCm39)	D1049G	probably damaging	Het
Creld1	C	T	6: 113,466,728 (GRCm39)	A237V	probably benign	Het
Csf2rb2	A	T	15: 78,171,287 (GRCm39)		probably benign	Het
Csmd3	G	A	15: 48,015,001 (GRCm39)	T643I	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fcmr	A	T	1: 130,802,072 (GRCm39)	T109S		Het
Grap	C	A	11: 61,562,551 (GRCm39)	P174Q	possibly damaging	Het
Itgb5	T	A	16: 33,730,826 (GRCm39)		probably benign	Het
Kidins220	A	G	12: 25,058,078 (GRCm39)	N561S	probably damaging	Het
Mri1	A	T	8: 84,983,796 (GRCm39)	S32T	probably benign	Het
Mrtfb	T	C	16: 13,218,791 (GRCm39)	V479A	probably benign	Het
Muc4	A	T	16: 32,569,971 (GRCm39)	T344S	possibly damaging	Het
Npc1	A	G	18: 12,334,769 (GRCm39)	I661T	possibly damaging	Het
Npy1r	A	G	8: 67,156,751 (GRCm39)	N57S	probably damaging	Het
Pds5b	A	G	5: 150,704,186 (GRCm39)	D863G	probably damaging	Het
Phf14	T	A	6: 11,961,563 (GRCm39)	V400D	probably damaging	Het
Polr2l	A	G	7: 141,053,246 (GRCm39)	I56T	probably benign	Het
Ppat	A	G	5: 77,063,884 (GRCm39)	I422T	probably benign	Het
Prkcg	T	A	7: 3,359,124 (GRCm39)	S110R	possibly damaging	Het
Rnf152	A	T	1: 105,212,251 (GRCm39)	L102Q		Het
Samd12	A	G	15: 53,583,088 (GRCm39)	V82A	probably damaging	Het
Serpina1e	T	A	12: 103,917,299 (GRCm39)	R123S	probably benign	Het
Slit1	T	A	19: 41,615,737 (GRCm39)	N794I	probably damaging	Het
Surf6	T	C	2: 26,783,006 (GRCm39)	K154R	probably damaging	Het
Tln2	C	T	9: 67,230,353 (GRCm39)	A71T	probably benign	Het
Trim3	A	G	7: 105,260,673 (GRCm39)	Y649H	probably benign	Het
Ttll7	T	A	3: 146,667,497 (GRCm39)	W808R	probably damaging	Het
Tvp23a	T	C	16: 10,245,287 (GRCm39)	D104G	probably damaging	Het
Upp2	A	G	2: 58,645,339 (GRCm39)		probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r119	A	G	7: 20,746,358 (GRCm39)	V8A	probably benign	Het
Vmn1r209	T	A	13: 22,990,546 (GRCm39)	H48L	probably damaging	Het
Wdr11	T	C	7: 129,232,523 (GRCm39)		probably null	Het
Zcchc17	T	C	4: 130,210,546 (GRCm39)	D207G	probably damaging	Het
Zfp78	T	C	7: 6,381,942 (GRCm39)	S331P	probably damaging	Het

Other mutations in Rab7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Rab7b	APN	1	131,626,329 (GRCm39)	missense	possibly damaging	0.93
IGL02884:Rab7b	APN	1	131,626,280 (GRCm39)	missense	probably damaging	1.00
Seven_up	UTSW	1	131,626,164 (GRCm39)	missense	probably damaging	1.00
uncola	UTSW	1	131,626,372 (GRCm39)	splice site	probably null
R0131:Rab7b	UTSW	1	131,626,293 (GRCm39)	missense	probably damaging	1.00
R0366:Rab7b	UTSW	1	131,626,242 (GRCm39)	missense	probably damaging	1.00
R1794:Rab7b	UTSW	1	131,624,806 (GRCm39)	critical splice donor site	probably null
R2140:Rab7b	UTSW	1	131,626,157 (GRCm39)	missense	probably damaging	1.00
R4589:Rab7b	UTSW	1	131,633,385 (GRCm39)	missense	probably benign	0.32
R5420:Rab7b	UTSW	1	131,626,164 (GRCm39)	missense	probably damaging	1.00
R6030:Rab7b	UTSW	1	131,626,299 (GRCm39)	missense	probably damaging	1.00
R6030:Rab7b	UTSW	1	131,626,299 (GRCm39)	missense	probably damaging	1.00
R6171:Rab7b	UTSW	1	131,626,372 (GRCm39)	splice site	probably null
R7542:Rab7b	UTSW	1	131,639,379 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGGCTGTGAACACTGAC -3'
(R):5'- CCATGTTCTGACTGCTGAGG -3'

Sequencing Primer
(F):5'- AGGCTGTGAACACTGACTCCTC -3'
(R):5'- TGAGGGAATCAGACCTGCATCTC -3'

Posted On

2022-11-09