Mutagenetix > Incidental Mutations

Incidental Mutation 'R0569:Rabgap1'

46282

Institutional Source

Beutler Lab

Gene Symbol

Rabgap1

Ensembl Gene

ENSMUSG00000035437

Gene Name

RAB GTPase activating protein 1

Synonyms

Gapcena

MMRRC Submission

038760-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R0569 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

37443279-37566454 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 37489717 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000066055] [ENSMUST00000112920] [ENSMUST00000133434] [ENSMUST00000183690]

Predicted Effect

probably benign
Transcript: ENSMUST00000061179

SMART Domains

Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
PTB	138	271	2.99e-30	SMART
Pfam:DUF3694	301	433	1.1e-38	PFAM
low complexity region	449	460	N/A	INTRINSIC
low complexity region	473	481	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
TBC	558	770	9.27e-74	SMART
Blast:TBC	803	880	9e-33	BLAST
coiled coil region	986	1038	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066055

SMART Domains

Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
PTB	138	271	2.99e-30	SMART
Pfam:DUF3694	301	433	7.1e-39	PFAM
low complexity region	449	460	N/A	INTRINSIC
low complexity region	473	481	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
TBC	558	770	9.27e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112920

SMART Domains

Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
PTB	138	271	2.99e-30	SMART
Pfam:DUF3694	301	432	1.6e-35	PFAM
low complexity region	449	460	N/A	INTRINSIC
low complexity region	473	481	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
TBC	558	770	9.27e-74	SMART
Blast:TBC	803	880	9e-33	BLAST
coiled coil region	986	1038	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130601

Predicted Effect

probably benign
Transcript: ENSMUST00000133434

SMART Domains

Protein: ENSMUSP00000121963
Gene: ENSMUSG00000035437

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
PTB	138	271	2.99e-30	SMART
Pfam:DUF3694	301	433	7.2e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153145

Predicted Effect

probably benign
Transcript: ENSMUST00000183690

SMART Domains

Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915

Domain	Start	End	E-Value	Type
DZF	81	334	2.45e-168	SMART
DSRM	388	452	3.11e-16	SMART
low complexity region	474	497	N/A	INTRINSIC
DSRM	511	575	1.2e-22	SMART
low complexity region	578	593	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205186

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,484,480	I572M	possibly damaging	Het
4930447A16Rik	T	C	15: 37,425,619	M1T	probably null	Het
4930590J08Rik	C	A	6: 91,942,578	C739*	probably null	Het
Adcy1	T	A	11: 7,146,514	V634E	probably benign	Het
Ankfy1	T	A	11: 72,753,608	H710Q	possibly damaging	Het
Ankrd60	C	T	2: 173,571,066	V90M	probably damaging	Het
Asgr2	A	T	11: 70,097,877	Q132L	probably benign	Het
Cchcr1	T	A	17: 35,528,968		probably null	Het
Ces1h	T	C	8: 93,352,146	K523E	unknown	Het
Clec3a	G	T	8: 114,425,736	G161C	probably damaging	Het
Cracr2b	G	A	7: 141,464,935		probably benign	Het
Cyp2b10	A	T	7: 25,897,735	L17F	probably damaging	Het
Dhx29	T	A	13: 112,948,214	N655K	probably benign	Het
Dst	C	A	1: 34,293,427	L4748I	probably damaging	Het
Eif2b5	G	C	16: 20,502,553	L285F	probably benign	Het
Enox1	T	A	14: 77,637,677	D441E	probably damaging	Het
Fam110a	T	C	2: 151,970,484	E122G	probably damaging	Het
Fam161b	T	A	12: 84,348,639	E510V	probably damaging	Het
Gabrd	T	C	4: 155,385,423	Y443C	probably damaging	Het
Gcn1l1	T	G	5: 115,595,059	S1052A	probably benign	Het
Gnptab	A	G	10: 88,428,557	E279G	possibly damaging	Het
Hoxa6	T	A	6: 52,208,183		probably null	Het
Ibtk	T	A	9: 85,708,181		probably benign	Het
Il6ra	A	T	3: 89,877,842		probably null	Het
Iqgap3	C	T	3: 88,090,725		probably benign	Het
Kcnk2	A	C	1: 189,339,801	L110R	probably damaging	Het
Knl1	T	A	2: 119,097,435	V1919D	possibly damaging	Het
Lrp1b	A	T	2: 40,889,239	L2597Q	probably benign	Het
Magi3	A	G	3: 104,016,042	S1120P	probably benign	Het
Map3k8	T	C	18: 4,349,162	D52G	probably benign	Het
Mcat	C	T	15: 83,549,248	R198H	probably benign	Het
Mnd1	A	G	3: 84,104,979	V141A	probably benign	Het
Morc1	T	C	16: 48,587,122	L667P	probably benign	Het
Mrps6	A	G	16: 92,111,920	K125E	possibly damaging	Het
Mst1	T	C	9: 108,082,301	F262S	probably damaging	Het
Olfr1052	T	G	2: 86,298,597	I260M	probably damaging	Het
Olfr18	T	A	9: 20,314,579	I114F	probably damaging	Het
Pbsn	C	G	X: 77,853,440	G15A	possibly damaging	Het
Pcnx	T	C	12: 81,992,030	I2023T	probably benign	Het
Pds5a	T	G	5: 65,656,401	N247T	probably damaging	Het
Peak1	T	C	9: 56,260,089	Y185C	probably damaging	Het
Phkb	T	A	8: 86,017,402	I560N	probably damaging	Het
Plekhn1	T	C	4: 156,225,201	I160V	probably damaging	Het
Rdh10	T	G	1: 16,129,293	V241G	probably damaging	Het
Selenow	A	T	7: 15,920,117	C37S	probably benign	Het
Sema6a	A	T	18: 47,270,805		probably null	Het
Slc12a3	T	C	8: 94,330,525		probably null	Het
Slc22a21	T	G	11: 53,951,810	M498L	probably benign	Het
Spink5	A	T	18: 43,989,419	N317I	probably damaging	Het
Srek1	A	G	13: 103,748,862		probably benign	Het
Syt11	A	G	3: 88,747,923	V357A	probably benign	Het
Tcof1	T	A	18: 60,829,035	K707N	possibly damaging	Het
Tfip11	C	T	5: 112,328,094	R42C	probably damaging	Het
Trim39	T	C	17: 36,263,731	K260E	probably benign	Het
Ttn	T	C	2: 76,723,319	T22658A	possibly damaging	Het
Unc45b	C	T	11: 82,936,812		probably benign	Het
Vmn1r236	A	G	17: 21,286,910	I97V	probably benign	Het
Vps13c	T	C	9: 67,973,719	V657A	probably damaging	Het
Zkscan2	A	G	7: 123,498,675	V166A	probably benign	Het

Other mutations in Rabgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Rabgap1	APN	2	37469546	missense	probably damaging	1.00
IGL01456:Rabgap1	APN	2	37541175	missense	probably damaging	0.99
IGL01599:Rabgap1	APN	2	37556269	missense	probably damaging	1.00
IGL01834:Rabgap1	APN	2	37564761	intron	probably benign
IGL01940:Rabgap1	APN	2	37487067	missense	probably damaging	1.00
IGL02416:Rabgap1	APN	2	37561950	missense	probably benign	0.00
IGL02683:Rabgap1	APN	2	37502939	missense	probably damaging	1.00
IGL02755:Rabgap1	APN	2	37537314	missense	probably damaging	0.98
IGL02999:Rabgap1	APN	2	37483826	missense	possibly damaging	0.56
IGL03144:Rabgap1	APN	2	37540532	missense	probably damaging	0.99
IGL02796:Rabgap1	UTSW	2	37472306	missense	probably damaging	0.99
R0117:Rabgap1	UTSW	2	37561885	splice site	probably null
R0455:Rabgap1	UTSW	2	37487120	missense	probably damaging	1.00
R0586:Rabgap1	UTSW	2	37543223	missense	probably benign
R0962:Rabgap1	UTSW	2	37560469	intron	probably benign
R1055:Rabgap1	UTSW	2	37492068	missense	possibly damaging	0.91
R1086:Rabgap1	UTSW	2	37469446	missense	probably damaging	0.99
R1251:Rabgap1	UTSW	2	37543234	splice site	probably null
R1598:Rabgap1	UTSW	2	37561899	missense	probably damaging	1.00
R1924:Rabgap1	UTSW	2	37495759	critical splice donor site	probably null
R1957:Rabgap1	UTSW	2	37483762	missense	possibly damaging	0.93
R2134:Rabgap1	UTSW	2	37563487	nonsense	probably null
R2154:Rabgap1	UTSW	2	37475441	missense	probably damaging	1.00
R4328:Rabgap1	UTSW	2	37532615	missense	probably damaging	1.00
R4351:Rabgap1	UTSW	2	37483782	missense	probably benign
R4658:Rabgap1	UTSW	2	37487549	nonsense	probably null
R4821:Rabgap1	UTSW	2	37532519	missense	probably damaging	1.00
R4897:Rabgap1	UTSW	2	37560571	missense	probably benign	0.01
R5014:Rabgap1	UTSW	2	37487140	missense	probably damaging	1.00
R5252:Rabgap1	UTSW	2	37475357	missense	probably benign	0.11
R5392:Rabgap1	UTSW	2	37469489	missense	probably damaging	1.00
R5794:Rabgap1	UTSW	2	37502902	missense	probably benign	0.03
R5941:Rabgap1	UTSW	2	37561896	missense	possibly damaging	0.62
R6002:Rabgap1	UTSW	2	37473602	missense	probably benign	0.05
R6209:Rabgap1	UTSW	2	37563598	nonsense	probably null
R6317:Rabgap1	UTSW	2	37542647	missense	possibly damaging	0.88
R7011:Rabgap1	UTSW	2	37540480	missense	probably damaging	1.00
R7014:Rabgap1	UTSW	2	37560563	missense	probably benign	0.08
R7514:Rabgap1	UTSW	2	37537342	missense	probably damaging	1.00
R7543:Rabgap1	UTSW	2	37469432	missense	probably damaging	0.99
R7599:Rabgap1	UTSW	2	37502896	frame shift	probably null
R7709:Rabgap1	UTSW	2	37537327	missense	possibly damaging	0.89
R7784:Rabgap1	UTSW	2	37487532	missense	possibly damaging	0.91
R7816:Rabgap1	UTSW	2	37563464	missense	probably benign	0.01
R7834:Rabgap1	UTSW	2	37469407	intron	probably benign
R7869:Rabgap1	UTSW	2	37487130	missense	probably benign	0.31
R7888:Rabgap1	UTSW	2	37537307	nonsense	probably null
R7917:Rabgap1	UTSW	2	37469407	intron	probably benign
R7952:Rabgap1	UTSW	2	37487130	missense	probably benign	0.31
R7971:Rabgap1	UTSW	2	37537307	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGATACAACGTGGTCAGTTAGACTTT -3'
(R):5'- TCAGTATGagctaggcagtggtgg -3'

Sequencing Primer
(F):5'- GTTAGACTTTTCACATGGACCCAG -3'
(R):5'- accctctcttctgacctctac -3'

Posted On

2013-06-11