Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02679:Rabl3'

303279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabl3

Ensembl Gene

ENSMUSG00000022827

Gene Name

RAB, member RAS oncogene family-like 3

Synonyms

4930553C05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02679

Quality Score

Status

Chromosome

Chromosomal Location

37360247-37392747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37362287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 42 (S42L)

Ref Sequence

ENSEMBL: ENSMUSP00000122441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023524] [ENSMUST00000023525] [ENSMUST00000130028]

AlphaFold

Q9D4V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023524
AA Change: S42L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023524
Gene: ENSMUSG00000022827
AA Change: S42L

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	8	128	8.5e-8	PFAM
Pfam:Roc	8	132	1.2e-16	PFAM
Pfam:Ras	8	178	7.9e-15	PFAM
Pfam:Gtr1_RagA	8	181	2.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023525

SMART Domains

Protein: ENSMUSP00000023525
Gene: ENSMUSG00000022828

Domain	Start	End	E-Value	Type
TFIIE	28	175	2.69e-74	SMART
low complexity region	221	233	N/A	INTRINSIC
low complexity region	332	351	N/A	INTRINSIC
Pfam:TFIIE-A_C	354	440	9.9e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128036

Predicted Effect

probably damaging
Transcript: ENSMUST00000130028
AA Change: S42L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122441
Gene: ENSMUSG00000022827
AA Change: S42L

Domain	Start	End	E-Value	Type
Pfam:Arf	1	126	3.3e-6	PFAM
Pfam:Gtr1_RagA	8	118	5.5e-8	PFAM
Pfam:MMR_HSR1	8	127	9.8e-8	PFAM
Pfam:Ras	8	128	9.5e-15	PFAM
Pfam:Miro	8	129	2.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130350

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	T	A	10: 81,018,813 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,296,542 (GRCm39)	Y302N	probably damaging	Het
Ankrd34c	A	T	9: 89,612,132 (GRCm39)	Y70N	probably damaging	Het
Asph	G	A	4: 9,601,349 (GRCm39)	P190S	possibly damaging	Het
Atp6v1h	T	C	1: 5,194,525 (GRCm39)	C235R	probably damaging	Het
Brwd1	A	G	16: 95,804,023 (GRCm39)	L2049P	probably benign	Het
Capn2	T	A	1: 182,300,149 (GRCm39)	I614F	probably benign	Het
Ccdc126	T	A	6: 49,310,995 (GRCm39)	M1K	probably null	Het
Cdh9	T	C	15: 16,832,316 (GRCm39)	I401T	probably damaging	Het
Cep57l1	T	C	10: 41,605,382 (GRCm39)	E121G	probably damaging	Het
Cfap46	A	G	7: 139,194,386 (GRCm39)	I2276T	probably damaging	Het
Cnnm3	T	C	1: 36,559,239 (GRCm39)	S490P	probably benign	Het
D430041D05Rik	C	T	2: 104,060,650 (GRCm39)	V731I	possibly damaging	Het
Dynlt2b	T	C	16: 32,244,125 (GRCm39)	V107A	possibly damaging	Het
Fgf3	C	A	7: 144,394,487 (GRCm39)	N100K	probably damaging	Het
Gas7	G	A	11: 67,566,553 (GRCm39)		probably null	Het
Gfm1	C	T	3: 67,382,100 (GRCm39)	P725S	possibly damaging	Het
Gimap4	T	A	6: 48,667,429 (GRCm39)	C61*	probably null	Het
Greb1	C	T	12: 16,758,724 (GRCm39)	R664Q	probably damaging	Het
Kpnb1	T	A	11: 97,068,086 (GRCm39)	I295F	possibly damaging	Het
Lamc3	A	G	2: 31,835,410 (GRCm39)	E1577G	probably benign	Het
Lrrk1	C	T	7: 65,924,620 (GRCm39)	V235M	probably damaging	Het
Meak7	A	T	8: 120,499,149 (GRCm39)	D114E	probably benign	Het
Mipol1	T	A	12: 57,352,829 (GRCm39)	V56E	possibly damaging	Het
Mycbp2	T	C	14: 103,442,621 (GRCm39)	I1927V	probably benign	Het
Ncaph	A	T	2: 126,966,784 (GRCm39)	N223K	possibly damaging	Het
Nipbl	A	G	15: 8,325,037 (GRCm39)	M2542T	probably benign	Het
Nolc1	C	A	19: 46,071,468 (GRCm39)		probably benign	Het
Or10j5	G	A	1: 172,784,743 (GRCm39)	C127Y	probably damaging	Het
Or51h1	A	G	7: 102,308,384 (GRCm39)	M119V	possibly damaging	Het
Pkhd1l1	T	C	15: 44,393,441 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,067,316 (GRCm39)	C306S	probably benign	Het
Ptpn13	A	T	5: 103,717,320 (GRCm39)	M1821L	possibly damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rfx3	G	A	19: 27,827,137 (GRCm39)	H150Y	possibly damaging	Het
Rngtt	A	G	4: 33,356,098 (GRCm39)	M312V	possibly damaging	Het
Slc10a2	T	A	8: 5,148,499 (GRCm39)	T149S	probably damaging	Het
Spata21	T	C	4: 140,838,576 (GRCm39)		probably benign	Het
Stx8	G	T	11: 67,860,598 (GRCm39)	W6C	probably damaging	Het
Tcn2	T	C	11: 3,877,504 (GRCm39)	E48G	possibly damaging	Het
Tecpr1	A	T	5: 144,143,364 (GRCm39)	N670K	probably benign	Het
Tmem255b	G	A	8: 13,507,055 (GRCm39)	M240I	probably benign	Het
Ubr4	G	A	4: 139,186,445 (GRCm39)	E651K	probably damaging	Het
Ubr5	T	C	15: 38,002,558 (GRCm39)	T1498A	probably benign	Het
Vmn2r95	G	A	17: 18,664,116 (GRCm39)	C445Y	probably damaging	Het
Zfp429	T	A	13: 67,547,855 (GRCm39)		probably benign	Het
Zfp804b	T	G	5: 6,821,392 (GRCm39)	D557A	possibly damaging	Het

Other mutations in Rabl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
xiamen	UTSW	16	37,362,293 (GRCm39)	missense	probably null	1.00
R1397:Rabl3	UTSW	16	37,360,336 (GRCm39)	splice site	probably benign
R1990:Rabl3	UTSW	16	37,384,079 (GRCm39)	missense	probably benign
R2125:Rabl3	UTSW	16	37,377,175 (GRCm39)	splice site	probably null
R2357:Rabl3	UTSW	16	37,362,293 (GRCm39)	missense	probably null	1.00
R4945:Rabl3	UTSW	16	37,362,220 (GRCm39)	missense	probably damaging	1.00
R7648:Rabl3	UTSW	16	37,384,120 (GRCm39)	missense	probably damaging	0.98
R8174:Rabl3	UTSW	16	37,377,225 (GRCm39)	missense	probably damaging	0.99
R9579:Rabl3	UTSW	16	37,362,230 (GRCm39)	missense	probably damaging	0.99
R9749:Rabl3	UTSW	16	37,377,190 (GRCm39)	missense	possibly damaging	0.87

Posted On

2015-04-16