Mutagenetix > Incidental Mutations

Incidental Mutation 'R3500:Rab44'

273780

Institutional Source

Beutler Lab

Gene Symbol

Rab44

Ensembl Gene

ENSMUSG00000064147

Gene Name

RAB44, member RAS oncogene family

Synonyms

9830134C10Rik

MMRRC Submission

040663-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29135056-29148980 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29138067 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 57 (A57V)

Ref Sequence

ENSEMBL: ENSMUSP00000085253 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087942
AA Change: A57V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: A57V

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: ENSMUST00000132262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147311

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	T	4: 107,891,513	R83W	probably damaging	Het
Amhr2	A	G	15: 102,447,066	D188G	probably benign	Het
Arl15	G	A	13: 113,967,692	E102K	probably damaging	Het
Atp10d	C	T	5: 72,245,723	R319C	probably damaging	Het
Cetn4	A	T	3: 37,309,960	F34I	probably benign	Het
Chd8	G	T	14: 52,205,653	H510N	probably benign	Het
Chil5	T	C	3: 106,018,220	D157G	probably damaging	Het
Clcn1	T	C	6: 42,292,995	S251P	probably damaging	Het
Clstn3	A	T	6: 124,431,711	C881S	probably benign	Het
Cnot4	G	A	6: 35,080,141		probably benign	Het
Copg1	G	A	6: 87,895,923		probably benign	Het
Eftud2	A	G	11: 102,844,180	M631T	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Fancb	A	G	X: 164,996,108	T721A	probably damaging	Het
Fat2	A	G	11: 55,260,516	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,365,601	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184		probably benign	Het
Gata4	C	T	14: 63,200,533	G390S	possibly damaging	Het
Gm9396	C	A	3: 130,068,495		noncoding transcript	Het
Grid2	T	C	6: 63,503,399	S66P	probably damaging	Het
Hdac9	C	A	12: 34,437,353	M16I	probably benign	Het
Kmt2c	A	T	5: 25,299,479	D3610E	probably benign	Het
Lactb2	A	T	1: 13,660,449	M1K	probably null	Het
Ldhb	T	C	6: 142,501,447	D47G	probably damaging	Het
Map3k11	A	T	19: 5,690,247	M1L	probably benign	Het
Mecom	C	T	3: 29,980,912	R205H	probably damaging	Het
Mob1b	A	G	5: 88,749,620	D129G	probably benign	Het
Nbea	A	G	3: 55,681,010	V2436A	possibly damaging	Het
Neb	T	C	2: 52,325,785	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,212,860	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,707,940	R282*	probably null	Het
Olfr1189	A	G	2: 88,591,941	T46A	probably damaging	Het
Olfr1224-ps1	C	T	2: 89,157,059	G39R	probably damaging	Het
Olfr1317	T	C	2: 112,142,127	F61L	possibly damaging	Het
Olfr1426	A	G	19: 12,088,057	V245A	possibly damaging	Het
Olfr589	T	C	7: 103,155,090	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,497,479	L109*	probably null	Het
Plcg2	A	G	8: 117,612,978	M1043V	probably benign	Het
Podxl2	T	C	6: 88,842,918	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,881,512	T252A	probably benign	Het
Pramel6	A	G	2: 87,509,225	H111R	probably damaging	Het
Prr19	A	G	7: 25,303,267	E130G	probably damaging	Het
Rhbdl3	T	C	11: 80,319,705	F95L	probably damaging	Het
Sdk1	G	T	5: 142,006,616		probably benign	Het
Tas2r122	T	A	6: 132,711,560	K123N	probably damaging	Het
Tbpl2	C	T	2: 24,087,139	R289Q	probably benign	Het
Trpm2	A	G	10: 77,932,302	F788L	probably benign	Het
Ttn	G	A	2: 76,730,284	L29258F	probably damaging	Het
Ttn	G	T	2: 76,761,165	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,713,170	I335T	possibly damaging	Het

Other mutations in Rab44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Rab44	APN	17	29139737	missense	probably benign
IGL01545:Rab44	APN	17	29147377	missense	unknown
IGL02314:Rab44	APN	17	29139353	missense	probably benign	0.04
IGL02402:Rab44	APN	17	29140516	missense	probably benign	0.01
IGL02492:Rab44	APN	17	29146049	splice site	probably benign
R0018:Rab44	UTSW	17	29139380	missense	probably benign	0.03
R0135:Rab44	UTSW	17	29138132	missense	probably benign	0.01
R0193:Rab44	UTSW	17	29140307	missense	probably benign
R0398:Rab44	UTSW	17	29145370	splice site	probably benign
R0403:Rab44	UTSW	17	29145261	missense	probably damaging	1.00
R0608:Rab44	UTSW	17	29147343	splice site	probably null
R0631:Rab44	UTSW	17	29139144	missense	possibly damaging	0.91
R0762:Rab44	UTSW	17	29145270	missense	unknown
R1128:Rab44	UTSW	17	29140461	missense	possibly damaging	0.90
R1681:Rab44	UTSW	17	29140124	missense	possibly damaging	0.47
R1706:Rab44	UTSW	17	29138106	missense	probably damaging	1.00
R2679:Rab44	UTSW	17	29144477	splice site	probably null
R3709:Rab44	UTSW	17	29139869	missense	probably benign	0.08
R4497:Rab44	UTSW	17	29139897	missense	probably benign	0.04
R4655:Rab44	UTSW	17	29139194	missense	probably benign
R4833:Rab44	UTSW	17	29136337	missense	probably damaging	1.00
R4850:Rab44	UTSW	17	29140089	missense	possibly damaging	0.95
R4926:Rab44	UTSW	17	29139555	missense	probably benign	0.01
R5694:Rab44	UTSW	17	29140500	missense	probably damaging	1.00
R5694:Rab44	UTSW	17	29145966	missense	unknown
R5835:Rab44	UTSW	17	29148238	missense	probably benign	0.13
R6146:Rab44	UTSW	17	29135417	start gained	probably benign
R6629:Rab44	UTSW	17	29135780	start gained	probably benign
R6814:Rab44	UTSW	17	29139810	missense	probably benign	0.18
R6865:Rab44	UTSW	17	29139227	missense	probably benign
R6872:Rab44	UTSW	17	29139810	missense	probably benign	0.18
R7032:Rab44	UTSW	17	29140464	missense	unknown
R7058:Rab44	UTSW	17	29138176	splice site	probably null
R7207:Rab44	UTSW	17	29138039	nonsense	probably null
R7218:Rab44	UTSW	17	29139444	missense
R7418:Rab44	UTSW	17	29140496	missense	unknown
R7651:Rab44	UTSW	17	29148205	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGAAAAGCTACCTCCCATCCAATTG -3'
(R):5'- TCTGTGGAGAGCAGCCTTTC -3'

Sequencing Primer
(F):5'- CCAATTGGACTGTTTAAGCTGG -3'
(R):5'- TTTCCCGGCTCCGAGGAG -3'

Posted On

2015-04-02