Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02884:Rab7b'

362924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab7b

Ensembl Gene

ENSMUSG00000052688

Gene Name

RAB7B, member RAS oncogene family

Synonyms

Rab7b, 5430435G22Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02884

Quality Score

Status

Chromosome

Chromosomal Location

131616433-131643177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131626280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 103 (R103G)

Ref Sequence

ENSEMBL: ENSMUSP00000065456 (fasta)

Gene Model

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

AlphaFold

Q8VEA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064664
AA Change: R103G

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

SMART Domains

Protein: ENSMUSP00000066452
Gene: ENSMUSG00000052688
AA Change: R103G

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 damaging
Transcript: ENSMUST00000064679
AA Change: R103G

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

SMART Domains

Protein: ENSMUSP00000065456
Gene: ENSMUSG00000052688
AA Change: R103G

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

noncoding transcript
Transcript: ENSMUST00000130848

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,178,302 (GRCm39)	I121V	probably benign	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Akap11	A	T	14: 78,736,402 (GRCm39)	M1797K	probably benign	Het
Akap6	T	A	12: 52,933,405 (GRCm39)	I299N	probably benign	Het
Akr1c12	A	T	13: 4,322,211 (GRCm39)	M277K	possibly damaging	Het
Ankrd17	A	T	5: 90,412,616 (GRCm39)	M1236K	probably damaging	Het
Arhgef11	A	G	3: 87,635,313 (GRCm39)	D874G	probably damaging	Het
Atg4b	T	C	1: 93,715,437 (GRCm39)		probably benign	Het
Bcl9	G	A	3: 97,117,368 (GRCm39)	P442L	probably damaging	Het
Ccdc107	A	T	4: 43,495,228 (GRCm39)	K98*	probably null	Het
Cenpl	A	G	1: 160,913,619 (GRCm39)	Q343R	probably benign	Het
Cep104	T	C	4: 154,074,319 (GRCm39)	C524R	probably damaging	Het
Clec3b	C	T	9: 122,985,827 (GRCm39)	T75I	probably benign	Het
Col13a1	A	T	10: 61,741,064 (GRCm39)		probably benign	Het
Crot	C	T	5: 9,028,197 (GRCm39)		probably null	Het
Ddo	G	A	10: 40,513,360 (GRCm39)	V101I	probably benign	Het
Disp2	T	C	2: 118,618,032 (GRCm39)		probably benign	Het
Dnmt3b	A	C	2: 153,516,297 (GRCm39)	Y474S	probably damaging	Het
Dpp6	T	A	5: 27,839,554 (GRCm39)	N298K	possibly damaging	Het
Fbf1	C	T	11: 116,037,339 (GRCm39)	E940K	probably damaging	Het
Fgd6	A	G	10: 93,881,501 (GRCm39)		probably benign	Het
H2-M10.2	T	C	17: 36,595,568 (GRCm39)	R241G	probably damaging	Het
Haghl	A	T	17: 26,002,072 (GRCm39)	F207Y	possibly damaging	Het
Helt	G	A	8: 46,745,620 (GRCm39)	R88C	probably damaging	Het
Igf2bp2	T	C	16: 21,981,635 (GRCm39)	K27E	probably benign	Het
Il1b	T	C	2: 129,207,022 (GRCm39)	H246R	probably benign	Het
Itprid1	T	C	6: 55,851,339 (GRCm39)		probably null	Het
Kcnu1	C	T	8: 26,411,556 (GRCm39)	S167L	probably damaging	Het
Kif16b	A	T	2: 142,544,534 (GRCm39)		probably benign	Het
Myh7	A	T	14: 55,230,276 (GRCm39)	S19T	probably benign	Het
Ncaph2	T	C	15: 89,248,447 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,101,951 (GRCm39)	L879P	probably damaging	Het
Nqo2	T	A	13: 34,156,344 (GRCm39)	N19K	probably damaging	Het
Or2r2	C	T	6: 42,463,540 (GRCm39)	V196M	probably damaging	Het
Osbpl1a	C	A	18: 12,952,635 (GRCm39)	G93*	probably null	Het
Pdxdc1	A	G	16: 13,661,659 (GRCm39)	F459L	possibly damaging	Het
Phc2	A	T	4: 128,601,809 (GRCm39)	H88L	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ptchd4	A	T	17: 42,813,340 (GRCm39)	T414S	possibly damaging	Het
Retnla	A	G	16: 48,662,943 (GRCm39)	Y3C	probably benign	Het
Samd7	G	A	3: 30,810,322 (GRCm39)	R113H	probably damaging	Het
Shisa9	G	A	16: 11,814,907 (GRCm39)		probably benign	Het
Soat1	A	T	1: 156,268,926 (GRCm39)	I208N	possibly damaging	Het
Stab1	C	A	14: 30,872,100 (GRCm39)		probably null	Het
Tti2	C	T	8: 31,641,505 (GRCm39)	L210F	possibly damaging	Het
Ube2v2	A	G	16: 15,374,349 (GRCm39)	V77A	probably benign	Het
Ubr5	T	C	15: 37,998,620 (GRCm39)	E1617G	probably damaging	Het
Vmn2r16	T	A	5: 109,508,757 (GRCm39)	I495K	possibly damaging	Het
Vwce	G	T	19: 10,623,943 (GRCm39)	R278L	possibly damaging	Het
Wdr26	C	T	1: 181,010,349 (GRCm39)	A551T	probably damaging	Het
Wee1	A	G	7: 109,725,269 (GRCm39)	I304V	probably benign	Het
Xrcc5	C	T	1: 72,385,396 (GRCm39)	H496Y	possibly damaging	Het
Zfp142	G	T	1: 74,611,142 (GRCm39)	S884R	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
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
R9343:Rab7b	UTSW	1	131,639,540 (GRCm39)	unclassified	probably benign

Posted On

2015-12-18