Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Rabgap1'

92028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabgap1

Ensembl Gene

ENSMUSG00000035437

Gene Name

RAB GTPase activating protein 1

Synonyms

Gapcena

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

37443279-37566454 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37556269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 859 (V859A)

Ref Sequence

ENSEMBL: ENSMUSP00000108542 (fasta)

Gene Model

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

AlphaFold

A2AWA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000061179
AA Change: V859A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: V859A

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 damaging
Transcript: ENSMUST00000112920
AA Change: V859A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: V859A

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: ENSMUST00000159092

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly damaging	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
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
Dread	UTSW	2	37537307	nonsense	probably null
Evanescence	UTSW	2	37532615	missense	probably damaging	1.00
foreboding	UTSW	2	37532519	missense	probably damaging	1.00
Temporality	UTSW	2	37487140	missense	probably damaging	0.96
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
R0569:Rabgap1	UTSW	2	37489717	intron	probably benign
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
R7949:Rabgap1	UTSW	2	37563479	missense	probably benign	0.44
R8084:Rabgap1	UTSW	2	37537305	missense	probably damaging	1.00
R8333:Rabgap1	UTSW	2	37495698	missense	probably benign
R8440:Rabgap1	UTSW	2	37542680	critical splice donor site	probably null
R9210:Rabgap1	UTSW	2	37487140	missense	probably damaging	0.96
R9212:Rabgap1	UTSW	2	37487140	missense	probably damaging	0.96
R9574:Rabgap1	UTSW	2	37543234	splice site	probably null
Z1176:Rabgap1	UTSW	2	37560544	missense	probably benign	0.06
Z1177:Rabgap1	UTSW	2	37469528	missense	probably benign	0.00

Posted On

2013-12-09