Mutagenetix > Incidental Mutation

Incidental Mutation 'R1794:Rab7b'

202011

Institutional Source

Beutler Lab

Gene Symbol

Rab7b

Ensembl Gene

ENSMUSG00000052688

Gene Name

RAB7B, member RAS oncogene family

Synonyms

Rab7b, 5430435G22Rik

MMRRC Submission

039824-MU

Accession Numbers

Essential gene?

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

Stock #

R1794 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

131616433-131643177 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 131624806 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 null
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 null
Transcript: ENSMUST00000064679

SMART Domains

Protein: ENSMUSP00000065456
Gene: ENSMUSG00000052688

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

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000130848

Predicted Effect

probably null
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: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa7	A	G	14: 20,521,535 (GRCm39)	Y54H	unknown	Het
Arhgef3	A	G	14: 27,119,562 (GRCm39)	T331A	probably benign	Het
Arhgef40	G	T	14: 52,227,387 (GRCm39)	C477F	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a5	C	A	16: 29,140,527 (GRCm39)	R343L	probably damaging	Het
Brdt	ACAGCAGCAGCAGCAGC	ACAGCAGCAGCAGC	5: 107,507,719 (GRCm39)		probably benign	Het
Btbd2	G	T	10: 80,479,747 (GRCm39)	D426E	probably damaging	Het
Cabin1	A	C	10: 75,561,579 (GRCm39)	I974R	possibly damaging	Het
Cacna1i	G	A	15: 80,273,323 (GRCm39)	V1670M	probably damaging	Het
Cc2d2a	C	A	5: 43,845,594 (GRCm39)	Q288K	probably damaging	Het
Ccl20	T	A	1: 83,095,550 (GRCm39)	I37K	possibly damaging	Het
Cdcp1	A	G	9: 123,019,159 (GRCm39)	V40A	probably benign	Het
Cdcp1	T	C	9: 123,044,896 (GRCm39)	T27A	probably benign	Het
Cdh4	C	T	2: 179,528,635 (GRCm39)	T581I	probably damaging	Het
Cgn	A	G	3: 94,669,864 (GRCm39)		probably null	Het
Col7a1	G	A	9: 108,794,996 (GRCm39)	G1493D	unknown	Het
Creb3	A	G	4: 43,563,302 (GRCm39)	E133G	probably benign	Het
Dchs1	T	C	7: 105,420,927 (GRCm39)	T498A	probably benign	Het
Dis3l	A	C	9: 64,225,058 (GRCm39)	V413G	possibly damaging	Het
Dnah6	T	C	6: 73,001,941 (GRCm39)	E3865G	probably damaging	Het
Fam219b	A	G	9: 57,446,564 (GRCm39)	Y139C	probably damaging	Het
Fat3	A	T	9: 15,908,432 (GRCm39)	Y2523*	probably null	Het
Fat3	A	T	9: 15,908,434 (GRCm39)	Y2523N	probably benign	Het
Fmnl1	T	C	11: 103,087,973 (GRCm39)	S40P	probably benign	Het
Gm4792	T	C	10: 94,134,352 (GRCm39)	D6G	unknown	Het
Hhat	G	T	1: 192,376,214 (GRCm39)	Y306*	probably null	Het
Hmcn1	A	G	1: 150,474,036 (GRCm39)	I4802T	probably benign	Het
Hmcn1	G	A	1: 150,502,903 (GRCm39)	T3908I	probably damaging	Het
Hsph1	A	T	5: 149,554,238 (GRCm39)	N79K	probably damaging	Het
Ikbke	T	A	1: 131,186,955 (GRCm39)	Y579F	probably damaging	Het
Jak2	A	G	19: 29,276,957 (GRCm39)	D838G	probably benign	Het
Klhdc7b	T	C	15: 89,271,223 (GRCm39)	S702P	probably benign	Het
Lingo3	C	A	10: 80,671,432 (GRCm39)	R166L	probably benign	Het
Lins1	T	C	7: 66,361,657 (GRCm39)	F436S	probably damaging	Het
Lman1	T	C	18: 66,124,755 (GRCm39)	D328G	probably benign	Het
Lox	A	G	18: 52,661,379 (GRCm39)	C232R	probably damaging	Het
Lrrc59	T	C	11: 94,529,421 (GRCm39)	V165A	probably benign	Het
Map9	A	G	3: 82,287,528 (GRCm39)	D50G	probably damaging	Het
Marchf1	T	A	8: 66,839,594 (GRCm39)	Y126N	possibly damaging	Het
Mcf2l	T	C	8: 12,965,982 (GRCm39)	F3L	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nin	G	A	12: 70,090,569 (GRCm39)	Q949*	probably null	Het
Nlgn3	A	G	X: 100,363,639 (GRCm39)	H636R	probably benign	Het
Notch2	A	G	3: 98,006,863 (GRCm39)	D411G	possibly damaging	Het
Or4c52	A	G	2: 89,845,364 (GRCm39)	Y30C	probably damaging	Het
Or5b24	G	C	19: 12,912,332 (GRCm39)	A77P	probably damaging	Het
Pate7	T	A	9: 35,688,418 (GRCm39)	I56F	probably benign	Het
Plekha7	A	G	7: 115,739,916 (GRCm39)	V579A	probably damaging	Het
Prrc2c	T	C	1: 162,533,528 (GRCm39)		probably benign	Het
Reg3b	G	T	6: 78,349,197 (GRCm39)		probably null	Het
Rgs20	A	G	1: 4,980,795 (GRCm39)	Y177H	probably damaging	Het
Ripk3	G	T	14: 56,022,786 (GRCm39)	N379K	probably benign	Het
Rnf220	G	T	4: 117,164,765 (GRCm39)	Q7K	probably benign	Het
Ros1	T	A	10: 52,000,199 (GRCm39)	K1109*	probably null	Het
Slc22a7	T	G	17: 46,744,079 (GRCm39)	R460S	probably damaging	Het
Slc4a2	A	G	5: 24,644,326 (GRCm39)	M975V	probably damaging	Het
Slc4a3	A	T	1: 75,533,952 (GRCm39)	I1100F	probably damaging	Het
Smco1	A	G	16: 32,092,950 (GRCm39)	E207G	probably benign	Het
Snrnp200	A	G	2: 127,058,656 (GRCm39)	E369G	probably benign	Het
Spata31d1e	T	C	13: 59,890,434 (GRCm39)	E44G	probably benign	Het
Tcf4	T	A	18: 69,790,924 (GRCm39)	M178K	probably benign	Het
Tex2	T	C	11: 106,458,728 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,972,877 (GRCm39)	I521N	probably damaging	Het
Tmem203	A	G	2: 25,146,006 (GRCm39)	T109A	probably benign	Het
Tmem50b	T	C	16: 91,374,917 (GRCm39)	I126V	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,595,006 (GRCm39)	F3813L	probably benign	Het
Vmn1r203	C	T	13: 22,708,521 (GRCm39)	R101W	probably damaging	Het
Vmn2r79	G	A	7: 86,650,621 (GRCm39)	V136I	probably benign	Het
Wdr38	A	G	2: 38,890,741 (GRCm39)	Y205C	probably damaging	Het
Zfp248	A	G	6: 118,406,264 (GRCm39)	F442L	probably damaging	Het
Znrf4	A	G	17: 56,818,599 (GRCm39)	I236T	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
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
R9343:Rab7b	UTSW	1	131,639,540 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCCACGGGATACTAAATGC -3'
(R):5'- CAGAGTTGCAGAAGGGCTAC -3'

Sequencing Primer
(F):5'- GCCCACGGGATACTAAATGCTATTG -3'
(R):5'- AACCAAGAACCTTTTGCTAGCTTC -3'

Posted On

2014-06-23