Mutagenetix > Incidental Mutation

Incidental Mutation 'R1128:Rab44'

96436

Institutional Source

Beutler Lab

Gene Symbol

Rab44

Ensembl Gene

ENSMUSG00000064147

Gene Name

RAB44, member RAS oncogene family

Synonyms

9830134C10Rik

MMRRC Submission

039201-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29333119-29367954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29359435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 541 (V541A)

Ref Sequence

ENSEMBL: ENSMUSP00000085253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087942]

AlphaFold

Q8CB87

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087942
AA Change: V541A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: V541A

Domain	Start	End	E-Value	Type
coiled coil region	1	68	N/A	INTRINSIC
low complexity region	143	157	N/A	INTRINSIC
low complexity region	261	276	N/A	INTRINSIC
RAB	538	701	1.11e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147311

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Amhr2	A	T	15: 102,361,256 (GRCm39)	Q402L	probably benign	Het
Brip1	A	T	11: 85,955,763 (GRCm39)	L917M	possibly damaging	Het
Dennd5a	G	A	7: 109,520,541 (GRCm39)	R415*	probably null	Het
Eif2ak1	G	T	5: 143,835,994 (GRCm39)		probably null	Het
Golga4	G	A	9: 118,377,852 (GRCm39)	A458T	probably benign	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Ift88	C	T	14: 57,754,476 (GRCm39)	R762*	probably null	Het
Kansl2	A	T	15: 98,431,566 (GRCm39)	C28*	probably null	Het
Lct	T	C	1: 128,229,046 (GRCm39)	R816G	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Obscn	T	C	11: 58,919,769 (GRCm39)	N6809S	probably null	Het
Pak6	A	G	2: 118,526,990 (GRCm39)	T662A	probably benign	Het
Pglyrp3	T	C	3: 91,935,479 (GRCm39)	F243S	probably benign	Het
Slc39a6	G	T	18: 24,718,349 (GRCm39)	H569Q	probably damaging	Het
Slc4a7	T	C	14: 14,733,832 (GRCm38)	S87P	probably damaging	Het
Spocd1	T	C	4: 129,850,599 (GRCm39)	V875A	possibly damaging	Het
Tspan17	A	G	13: 54,942,984 (GRCm39)	D146G	probably damaging	Het

Other mutations in Rab44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Rab44	APN	17	29,358,711 (GRCm39)	missense	probably benign
IGL01545:Rab44	APN	17	29,366,351 (GRCm39)	missense	unknown
IGL02314:Rab44	APN	17	29,358,327 (GRCm39)	missense	probably benign	0.04
IGL02402:Rab44	APN	17	29,359,490 (GRCm39)	missense	probably benign	0.01
IGL02492:Rab44	APN	17	29,365,023 (GRCm39)	splice site	probably benign
R0018:Rab44	UTSW	17	29,358,354 (GRCm39)	missense	probably benign	0.03
R0135:Rab44	UTSW	17	29,357,106 (GRCm39)	missense	probably benign	0.01
R0193:Rab44	UTSW	17	29,359,281 (GRCm39)	missense	probably benign
R0398:Rab44	UTSW	17	29,364,344 (GRCm39)	splice site	probably benign
R0403:Rab44	UTSW	17	29,364,235 (GRCm39)	missense	probably damaging	1.00
R0608:Rab44	UTSW	17	29,366,317 (GRCm39)	splice site	probably null
R0631:Rab44	UTSW	17	29,358,118 (GRCm39)	missense	possibly damaging	0.91
R0762:Rab44	UTSW	17	29,364,244 (GRCm39)	missense	unknown
R1681:Rab44	UTSW	17	29,359,098 (GRCm39)	missense	possibly damaging	0.47
R1706:Rab44	UTSW	17	29,357,080 (GRCm39)	missense	probably damaging	1.00
R2679:Rab44	UTSW	17	29,363,451 (GRCm39)	splice site	probably null
R3500:Rab44	UTSW	17	29,357,041 (GRCm39)	missense	probably benign	0.09
R3709:Rab44	UTSW	17	29,358,843 (GRCm39)	missense	probably benign	0.08
R4497:Rab44	UTSW	17	29,358,871 (GRCm39)	missense	probably benign	0.04
R4655:Rab44	UTSW	17	29,358,168 (GRCm39)	missense	probably benign
R4833:Rab44	UTSW	17	29,355,311 (GRCm39)	missense	probably damaging	1.00
R4850:Rab44	UTSW	17	29,359,063 (GRCm39)	missense	possibly damaging	0.95
R4926:Rab44	UTSW	17	29,358,529 (GRCm39)	missense	probably benign	0.01
R5694:Rab44	UTSW	17	29,359,474 (GRCm39)	missense	probably damaging	1.00
R5694:Rab44	UTSW	17	29,364,940 (GRCm39)	missense	unknown
R5835:Rab44	UTSW	17	29,367,212 (GRCm39)	missense	probably benign	0.13
R6146:Rab44	UTSW	17	29,354,391 (GRCm39)	start gained	probably benign
R6629:Rab44	UTSW	17	29,354,754 (GRCm39)	start gained	probably benign
R6814:Rab44	UTSW	17	29,358,784 (GRCm39)	missense	probably benign	0.18
R6865:Rab44	UTSW	17	29,358,201 (GRCm39)	missense	probably benign
R6872:Rab44	UTSW	17	29,358,784 (GRCm39)	missense	probably benign	0.18
R7032:Rab44	UTSW	17	29,359,438 (GRCm39)	missense	unknown
R7058:Rab44	UTSW	17	29,357,150 (GRCm39)	splice site	probably null
R7207:Rab44	UTSW	17	29,357,013 (GRCm39)	nonsense	probably null
R7218:Rab44	UTSW	17	29,358,418 (GRCm39)	missense
R7418:Rab44	UTSW	17	29,359,470 (GRCm39)	missense	unknown
R7651:Rab44	UTSW	17	29,367,179 (GRCm39)	missense	unknown
R8336:Rab44	UTSW	17	29,367,249 (GRCm39)	makesense	probably null
R8406:Rab44	UTSW	17	29,359,294 (GRCm39)	missense	unknown
R8534:Rab44	UTSW	17	29,363,547 (GRCm39)	splice site	probably null
R8680:Rab44	UTSW	17	29,358,642 (GRCm39)	nonsense	probably null
R9267:Rab44	UTSW	17	29,354,338 (GRCm39)	start gained	probably benign
R9428:Rab44	UTSW	17	29,358,315 (GRCm39)	missense
R9438:Rab44	UTSW	17	29,364,226 (GRCm39)	missense	unknown
R9490:Rab44	UTSW	17	29,354,065 (GRCm39)	start gained	probably benign
R9573:Rab44	UTSW	17	29,364,277 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCATGGAATCACCCCAGCAAGATG -3'
(R):5'- TGCCTGTAATTAGAGGCGATTAGCG -3'

Sequencing Primer
(F):5'- TTACCCTGGCTGAGTCAGAAG -3'
(R):5'- GCGAAATGCTAAGATTATGCCC -3'

Posted On

2014-01-05