Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Rabgap1l'

186058

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabgap1l

Ensembl Gene

ENSMUSG00000026721

Gene Name

RAB GTPase activating protein 1-like

Synonyms

Hh1, 8430421H08Rik, 5830411O09Rik, 9630005B12Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

160219174-160793211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 160738970 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 58 (C58Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028049] [ENSMUST00000193810] [ENSMUST00000195442]

Predicted Effect

probably benign
Transcript: ENSMUST00000028049
AA Change: C86Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: C86Y

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
PTB	127	260	4.47e-20	SMART
Pfam:DUF3694	290	421	8.1e-41	PFAM
low complexity region	483	496	N/A	INTRINSIC
TBC	535	747	5.13e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193810
AA Change: C86Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141749
Gene: ENSMUSG00000026721
AA Change: C86Y

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
Blast:PTB	127	147	6e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000195442
AA Change: C58Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: C58Y

Domain	Start	End	E-Value	Type
low complexity region	85	96	N/A	INTRINSIC
PTB	99	232	4.47e-20	SMART
Pfam:DUF3694	262	394	1.4e-42	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap insertion are viable, fertile and overtly normal with no alterations in hematopoietic progenitor cell numbers or types. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Rabgap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Rabgap1l	APN	1	160738969	missense	probably benign	0.02
IGL01309:Rabgap1l	APN	1	160700798	missense	probably benign	0.00
IGL01448:Rabgap1l	APN	1	160740745	splice site	probably benign
IGL01886:Rabgap1l	APN	1	160342042	missense	probably damaging	1.00
IGL02010:Rabgap1l	APN	1	160472071	missense	probably damaging	0.99
IGL02800:Rabgap1l	APN	1	160472053	missense	possibly damaging	0.73
IGL03343:Rabgap1l	APN	1	160443283	missense	probably benign
IGL03388:Rabgap1l	APN	1	160733523	splice site	probably null
IGL03406:Rabgap1l	APN	1	160722169	missense	probably damaging	1.00
R0047:Rabgap1l	UTSW	1	160231789	splice site	probably benign
R0047:Rabgap1l	UTSW	1	160231789	splice site	probably benign
R0048:Rabgap1l	UTSW	1	160627369	splice site	probably benign
R0099:Rabgap1l	UTSW	1	160682116	missense	possibly damaging	0.89
R0201:Rabgap1l	UTSW	1	160453745	splice site	probably benign
R0432:Rabgap1l	UTSW	1	160722205	missense	probably benign	0.10
R1104:Rabgap1l	UTSW	1	160231875	splice site	probably benign
R1220:Rabgap1l	UTSW	1	160738909	missense	probably damaging	1.00
R1485:Rabgap1l	UTSW	1	160733680	missense	probably benign	0.06
R1569:Rabgap1l	UTSW	1	160702390	missense	probably benign	0.08
R1907:Rabgap1l	UTSW	1	160645310	missense	probably benign	0.07
R2128:Rabgap1l	UTSW	1	160738957	missense	probably benign	0.00
R2129:Rabgap1l	UTSW	1	160738957	missense	probably benign	0.00
R2177:Rabgap1l	UTSW	1	160724062	missense	possibly damaging	0.89
R4636:Rabgap1l	UTSW	1	160342090	synonymous	probably null
R4722:Rabgap1l	UTSW	1	160342164	missense	possibly damaging	0.81
R4743:Rabgap1l	UTSW	1	160453783	missense	probably damaging	1.00
R4913:Rabgap1l	UTSW	1	160238541	missense	probably damaging	1.00
R4915:Rabgap1l	UTSW	1	160441842	missense	probably benign	0.01
R5035:Rabgap1l	UTSW	1	160724036	missense	probably damaging	1.00
R5087:Rabgap1l	UTSW	1	160722239	missense	probably damaging	1.00
R5437:Rabgap1l	UTSW	1	160722147	missense	probably damaging	1.00
R5507:Rabgap1l	UTSW	1	160351328	missense	possibly damaging	0.83
R5619:Rabgap1l	UTSW	1	160238572	missense	probably benign	0.00
R5691:Rabgap1l	UTSW	1	160735684	missense	probably damaging	1.00
R5837:Rabgap1l	UTSW	1	160307222	utr 3 prime	probably benign
R5881:Rabgap1l	UTSW	1	160342113	missense	probably damaging	1.00
R6045:Rabgap1l	UTSW	1	160645323	missense	probably benign	0.00
R6243:Rabgap1l	UTSW	1	160645307	critical splice donor site	probably null
R6294:Rabgap1l	UTSW	1	160231849	missense	probably benign	0.14
R6452:Rabgap1l	UTSW	1	160453761	missense	probably damaging	1.00
R6802:Rabgap1l	UTSW	1	160733680	missense	probably benign	0.06
R6945:Rabgap1l	UTSW	1	160682182	missense	probably benign	0.29
R7014:Rabgap1l	UTSW	1	160342072	missense	probably damaging	1.00
R7062:Rabgap1l	UTSW	1	160226650	missense	probably benign
R7089:Rabgap1l	UTSW	1	160724172	nonsense	probably null
R7170:Rabgap1l	UTSW	1	160645365	missense	probably damaging	1.00
R7172:Rabgap1l	UTSW	1	160733586	missense	probably benign	0.05
R7303:Rabgap1l	UTSW	1	160682097	missense	probably benign	0.01
R7357:Rabgap1l	UTSW	1	160342038	missense	probably damaging	1.00
R7466:Rabgap1l	UTSW	1	160226484	critical splice donor site	probably null
R7501:Rabgap1l	UTSW	1	160700788	missense	probably damaging	0.98
R7565:Rabgap1l	UTSW	1	160251417	missense
R7582:Rabgap1l	UTSW	1	160682084	missense	probably benign

Posted On

2014-05-07