Mutagenetix > Incidental Mutation

Incidental Mutation 'R0403:Rab44'

35740

Institutional Source

Beutler Lab

Gene Symbol

Rab44

Ensembl Gene

ENSMUSG00000064147

Gene Name

RAB44, member RAS oncogene family

Synonyms

9830134C10Rik

MMRRC Submission

038608-MU

Accession Numbers

Essential gene?

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

Stock #

R0403 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

29333119-29367954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29364235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 603 (T603K)

Ref Sequence

ENSEMBL: ENSMUSP00000085253 (fasta)

Gene Model

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

AlphaFold

Q8CB87

Predicted Effect

probably damaging
Transcript: ENSMUST00000087942
AA Change: T603K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: T603K

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

Meta Mutation Damage Score

0.2014

Coding Region Coverage

1x: 98.0%
3x: 96.8%
10x: 93.2%
20x: 83.7%

Validation Efficiency

97% (110/113)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,864,706 (GRCm39)		probably null	Het
Adgrg3	C	T	8: 95,763,550 (GRCm39)	L284F	probably benign	Het
Alkbh8	T	A	9: 3,385,469 (GRCm39)	V587E	probably damaging	Het
Ap4b1	T	A	3: 103,728,712 (GRCm39)	M590K	probably benign	Het
Ap4b1	T	A	3: 103,726,155 (GRCm39)	C244S	probably damaging	Het
Arhgap15	C	T	2: 43,953,778 (GRCm39)	T168I	probably damaging	Het
Atp8b1	A	G	18: 64,673,381 (GRCm39)	V997A	probably damaging	Het
Atrn	G	A	2: 130,748,779 (GRCm39)	C100Y	probably damaging	Het
Baiap2l2	C	A	15: 79,155,416 (GRCm39)	A151S	probably benign	Het
Baz2b	A	T	2: 59,799,721 (GRCm39)	D199E	possibly damaging	Het
Bmal2	T	A	6: 146,724,153 (GRCm39)	H348Q	probably damaging	Het
Cblb	A	G	16: 51,972,989 (GRCm39)	D440G	probably benign	Het
Cdon	T	C	9: 35,384,796 (GRCm39)	V694A	probably benign	Het
Cep250	A	T	2: 155,834,269 (GRCm39)	R2065W	probably damaging	Het
Ces2b	G	T	8: 105,560,577 (GRCm39)	A131S	probably damaging	Het
Chrna9	A	T	5: 66,125,235 (GRCm39)	T59S	possibly damaging	Het
Cog3	T	A	14: 75,979,767 (GRCm39)		probably benign	Het
Cpa1	G	A	6: 30,641,856 (GRCm39)	V227I	probably benign	Het
Cyp3a25	A	T	5: 145,935,323 (GRCm39)	C98S	probably damaging	Het
D8Ertd738e	C	T	8: 84,976,230 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,447,575 (GRCm39)		probably benign	Het
Dhx16	T	C	17: 36,193,942 (GRCm39)		probably null	Het
Dnah9	T	A	11: 65,975,615 (GRCm39)	Q1478L	possibly damaging	Het
Dock10	T	C	1: 80,501,787 (GRCm39)	Y1434C	possibly damaging	Het
Enpp3	T	A	10: 24,680,334 (GRCm39)	D325V	probably damaging	Het
Entpd6	C	A	2: 150,602,090 (GRCm39)	T194K	possibly damaging	Het
Fat2	A	T	11: 55,161,175 (GRCm39)	V3185E	probably benign	Het
Flrt1	A	G	19: 7,073,284 (GRCm39)	L421P	probably benign	Het
Fmn2	A	T	1: 174,521,844 (GRCm39)	Q1292L	probably damaging	Het
Fndc1	T	C	17: 7,972,555 (GRCm39)	D1459G	probably damaging	Het
Fndc1	T	C	17: 7,994,420 (GRCm39)		probably null	Het
Fzr1	A	G	10: 81,205,202 (GRCm39)	S265P	possibly damaging	Het
Gpr142	G	A	11: 114,696,855 (GRCm39)	V134M	probably damaging	Het
Grid2ip	G	T	5: 143,343,375 (GRCm39)	V24L	possibly damaging	Het
Herc2	G	A	7: 55,809,165 (GRCm39)	R2555H	probably damaging	Het
Hpdl	A	T	4: 116,677,676 (GRCm39)	Y262N	possibly damaging	Het
Htr3a	A	G	9: 48,819,959 (GRCm39)	V57A	probably damaging	Het
Igfbp7	T	C	5: 77,503,438 (GRCm39)	I186V	probably benign	Het
Itga2b	C	T	11: 102,358,152 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,014,009 (GRCm39)	D736A	possibly damaging	Het
Itpkc	T	A	7: 26,907,770 (GRCm39)	M645L	probably benign	Het
Jchain	T	C	5: 88,669,237 (GRCm39)	R139G	probably benign	Het
Kif13a	A	G	13: 46,944,877 (GRCm39)	V908A	probably damaging	Het
Kif1b	T	A	4: 149,266,424 (GRCm39)	K389*	probably null	Het
Klhl12	T	C	1: 134,413,594 (GRCm39)	Y360H	possibly damaging	Het
Knop1	G	A	7: 118,452,276 (GRCm39)	R148W	probably damaging	Het
Lpar1	T	A	4: 58,487,191 (GRCm39)	N27Y	probably damaging	Het
Lpar2	T	A	8: 70,276,802 (GRCm39)	V197D	probably damaging	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Lum	G	T	10: 97,407,905 (GRCm39)	V337F	probably benign	Het
Mag	T	C	7: 30,606,405 (GRCm39)	D344G	probably damaging	Het
Maip1	G	A	1: 57,446,355 (GRCm39)	A142T	probably benign	Het
Mlh3	A	G	12: 85,315,742 (GRCm39)	V148A	possibly damaging	Het
Nav3	A	G	10: 109,602,964 (GRCm39)	V1195A	probably damaging	Het
Ncor2	A	G	5: 125,110,401 (GRCm39)	S868P	possibly damaging	Het
Nek1	A	G	8: 61,559,889 (GRCm39)	E907G	probably damaging	Het
Nfam1	G	A	15: 82,900,580 (GRCm39)	T134I	probably benign	Het
Nr0b2	T	C	4: 133,281,070 (GRCm39)	V112A	probably damaging	Het
Nrp1	A	G	8: 129,184,450 (GRCm39)	N365S	probably damaging	Het
Nrsn2	T	C	2: 152,211,710 (GRCm39)	Y107C	probably damaging	Het
Ntng1	G	A	3: 109,841,927 (GRCm39)	A282V	probably damaging	Het
Nxf1	T	C	19: 8,742,392 (GRCm39)	I337T	probably damaging	Het
Obscn	C	T	11: 58,967,366 (GRCm39)	G479D	probably damaging	Het
Oprd1	T	A	4: 131,841,079 (GRCm39)	D293V	probably benign	Het
Or13a17	T	C	7: 140,271,222 (GRCm39)	S135P	possibly damaging	Het
P3h2	T	G	16: 25,788,700 (GRCm39)	N586H	possibly damaging	Het
Pcid2	T	C	8: 13,135,367 (GRCm39)	Y214C	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Ppic	C	A	18: 53,544,143 (GRCm39)	G81W	probably damaging	Het
Ppp2r1a	C	A	17: 21,177,303 (GRCm39)	P246T	probably damaging	Het
Ppp4r4	T	G	12: 103,550,361 (GRCm39)	S46A	probably benign	Het
Pramel31	A	G	4: 144,089,216 (GRCm39)	N178S	probably benign	Het
Prkce	A	G	17: 86,476,081 (GRCm39)	T21A	probably damaging	Het
Prkg2	T	C	5: 99,142,504 (GRCm39)	E210G	possibly damaging	Het
Prss35	A	G	9: 86,638,090 (GRCm39)	M287V	probably damaging	Het
Psd	G	A	19: 46,309,411 (GRCm39)		probably benign	Het
Ptch2	A	T	4: 116,968,036 (GRCm39)	K843*	probably null	Het
Rasal3	T	A	17: 32,611,764 (GRCm39)		probably null	Het
Rbbp6	A	G	7: 122,591,519 (GRCm39)	T526A	probably damaging	Het
Ros1	A	T	10: 52,019,534 (GRCm39)		probably benign	Het
Sec24b	T	A	3: 129,783,325 (GRCm39)	L1104F	possibly damaging	Het
Sec24b	A	G	3: 129,793,183 (GRCm39)	S685P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setmar	A	T	6: 108,052,923 (GRCm39)	H139L	probably benign	Het
Slc28a2b	T	C	2: 122,352,335 (GRCm39)	L364S	probably damaging	Het
Slc4a7	T	C	14: 14,766,808 (GRCm38)	V710A	probably benign	Het
Smarcc1	T	A	9: 110,066,876 (GRCm39)		probably null	Het
Smchd1	G	A	17: 71,701,897 (GRCm39)	L1032F	probably damaging	Het
Speg	T	C	1: 75,407,428 (GRCm39)		probably benign	Het
Tasor2	A	T	13: 3,632,052 (GRCm39)	Y816*	probably null	Het
Tcea1	C	G	1: 4,959,726 (GRCm39)	R134G	probably benign	Het
Tchhl1	C	T	3: 93,378,336 (GRCm39)	Q347*	probably null	Het
Tecrl	A	T	5: 83,502,605 (GRCm39)		probably benign	Het
Tepsin	T	C	11: 119,984,508 (GRCm39)		probably benign	Het
Tmem40	G	A	6: 115,710,946 (GRCm39)		probably benign	Het
Tpr	G	A	1: 150,283,165 (GRCm39)		probably benign	Het
Ttll12	A	T	15: 83,464,859 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,739,952 (GRCm39)	D3529V	probably benign	Het
Usp34	T	A	11: 23,283,838 (GRCm39)	H177Q	possibly damaging	Het
Vsig10	T	A	5: 117,476,526 (GRCm39)	S327T	probably benign	Het
Zbtb4	T	A	11: 69,668,465 (GRCm39)	M396K	probably damaging	Het
Zfp352	C	T	4: 90,113,246 (GRCm39)	T462I	possibly damaging	Het
Zfp385b	T	C	2: 77,307,189 (GRCm39)	M145V	probably damaging	Het
Zfp780b	C	A	7: 27,671,114 (GRCm39)	V65F	possibly 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
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
R1128:Rab44	UTSW	17	29,359,435 (GRCm39)	missense	possibly damaging	0.90
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'- TGTCCCCACTGAAGCAATAACACTG -3'
(R):5'- CTTCCTCTGGGTTCCAAAACCTGAG -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- GTTCCAAAACCTGAGGCCAG -3'

Posted On

2013-05-09