Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01456:Rabgap1'

84774

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?

Probably non essential (E-score: 0.239) question?

Stock #

IGL01456

Quality Score

Status

Chromosome

Chromosomal Location

37333291-37456466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37431187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 746 (E746G)

Ref Sequence

ENSEMBL: ENSMUSP00000108542 (fasta)

Gene Model

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

AlphaFold

A2AWA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000061179
AA Change: E746G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: E746G

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: ENSMUST00000066055
AA Change: E746G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: E746G

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 damaging
Transcript: ENSMUST00000112920
AA Change: E746G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: E746G

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Akap13	T	C	7: 75,252,595 (GRCm39)	C242R	probably damaging	Het
Ap5z1	T	C	5: 142,453,791 (GRCm39)	L175P	probably damaging	Het
Arid1b	A	G	17: 5,341,510 (GRCm39)	E938G	probably damaging	Het
Arid4a	A	G	12: 71,114,036 (GRCm39)	N208D	probably benign	Het
Atr	A	G	9: 95,832,618 (GRCm39)	H2556R	possibly damaging	Het
Cald1	A	T	6: 34,741,931 (GRCm39)	D438V	probably damaging	Het
Dcbld2	C	T	16: 58,229,236 (GRCm39)	P40S	possibly damaging	Het
Dock8	G	A	19: 25,096,863 (GRCm39)	M590I	possibly damaging	Het
Gm1818	A	T	12: 48,602,583 (GRCm39)		noncoding transcript	Het
Hace1	A	G	10: 45,586,094 (GRCm39)		probably benign	Het
Igkv10-96	A	G	6: 68,609,086 (GRCm39)	Y70H	probably benign	Het
Kdm2a	G	T	19: 4,401,783 (GRCm39)	H200Q	probably damaging	Het
Ldha	A	G	7: 46,499,602 (GRCm39)	D111G	possibly damaging	Het
Map7	A	G	10: 20,149,550 (GRCm39)	E567G	unknown	Het
Nbeal1	G	T	1: 60,269,787 (GRCm39)	L375F	probably damaging	Het
Nectin3	T	C	16: 46,279,216 (GRCm39)	E254G	probably benign	Het
Nlrp4b	A	T	7: 10,448,150 (GRCm39)	I118F	probably benign	Het
Pkhd1	A	T	1: 20,269,683 (GRCm39)	V3287D	probably damaging	Het
Ptpre	T	G	7: 135,271,531 (GRCm39)	V375G	probably damaging	Het
Sh2b2	C	T	5: 136,253,321 (GRCm39)	C311Y	probably damaging	Het
Skor1	G	A	9: 63,052,772 (GRCm39)	T399I	probably damaging	Het
Sptbn2	A	G	19: 4,796,777 (GRCm39)	T1792A	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tln1	G	A	4: 43,543,432 (GRCm39)		probably benign	Het
Tmc7	C	A	7: 118,146,533 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tpte	A	G	8: 22,835,068 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,097,211 (GRCm39)	R1228W	probably damaging	Het
Vipr1	C	T	9: 121,494,244 (GRCm39)	T275M	probably damaging	Het
Vmn1r177	G	T	7: 23,565,753 (GRCm39)	P41Q	possibly damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het

Other mutations in Rabgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Rabgap1	APN	2	37,359,558 (GRCm39)	missense	probably damaging	1.00
IGL01599:Rabgap1	APN	2	37,446,281 (GRCm39)	missense	probably damaging	1.00
IGL01834:Rabgap1	APN	2	37,454,773 (GRCm39)	intron	probably benign
IGL01940:Rabgap1	APN	2	37,377,079 (GRCm39)	missense	probably damaging	1.00
IGL02416:Rabgap1	APN	2	37,451,962 (GRCm39)	missense	probably benign	0.00
IGL02683:Rabgap1	APN	2	37,392,951 (GRCm39)	missense	probably damaging	1.00
IGL02755:Rabgap1	APN	2	37,427,326 (GRCm39)	missense	probably damaging	0.98
IGL02999:Rabgap1	APN	2	37,373,838 (GRCm39)	missense	possibly damaging	0.56
IGL03144:Rabgap1	APN	2	37,430,544 (GRCm39)	missense	probably damaging	0.99
Dread	UTSW	2	37,427,319 (GRCm39)	nonsense	probably null
Evanescence	UTSW	2	37,422,627 (GRCm39)	missense	probably damaging	1.00
foreboding	UTSW	2	37,422,531 (GRCm39)	missense	probably damaging	1.00
Temporality	UTSW	2	37,377,152 (GRCm39)	missense	probably damaging	0.96
IGL02796:Rabgap1	UTSW	2	37,362,318 (GRCm39)	missense	probably damaging	0.99
R0117:Rabgap1	UTSW	2	37,451,897 (GRCm39)	splice site	probably null
R0455:Rabgap1	UTSW	2	37,377,132 (GRCm39)	missense	probably damaging	1.00
R0569:Rabgap1	UTSW	2	37,379,729 (GRCm39)	intron	probably benign
R0586:Rabgap1	UTSW	2	37,433,235 (GRCm39)	missense	probably benign
R0962:Rabgap1	UTSW	2	37,450,481 (GRCm39)	intron	probably benign
R1055:Rabgap1	UTSW	2	37,382,080 (GRCm39)	missense	possibly damaging	0.91
R1086:Rabgap1	UTSW	2	37,359,458 (GRCm39)	missense	probably damaging	0.99
R1251:Rabgap1	UTSW	2	37,433,246 (GRCm39)	splice site	probably null
R1598:Rabgap1	UTSW	2	37,451,911 (GRCm39)	missense	probably damaging	1.00
R1924:Rabgap1	UTSW	2	37,385,771 (GRCm39)	critical splice donor site	probably null
R1957:Rabgap1	UTSW	2	37,373,774 (GRCm39)	missense	possibly damaging	0.93
R2134:Rabgap1	UTSW	2	37,453,499 (GRCm39)	nonsense	probably null
R2154:Rabgap1	UTSW	2	37,365,453 (GRCm39)	missense	probably damaging	1.00
R4328:Rabgap1	UTSW	2	37,422,627 (GRCm39)	missense	probably damaging	1.00
R4351:Rabgap1	UTSW	2	37,373,794 (GRCm39)	missense	probably benign
R4658:Rabgap1	UTSW	2	37,377,561 (GRCm39)	nonsense	probably null
R4821:Rabgap1	UTSW	2	37,422,531 (GRCm39)	missense	probably damaging	1.00
R4897:Rabgap1	UTSW	2	37,450,583 (GRCm39)	missense	probably benign	0.01
R5014:Rabgap1	UTSW	2	37,377,152 (GRCm39)	missense	probably damaging	1.00
R5252:Rabgap1	UTSW	2	37,365,369 (GRCm39)	missense	probably benign	0.11
R5392:Rabgap1	UTSW	2	37,359,501 (GRCm39)	missense	probably damaging	1.00
R5794:Rabgap1	UTSW	2	37,392,914 (GRCm39)	missense	probably benign	0.03
R5941:Rabgap1	UTSW	2	37,451,908 (GRCm39)	missense	possibly damaging	0.62
R6002:Rabgap1	UTSW	2	37,363,614 (GRCm39)	missense	probably benign	0.05
R6209:Rabgap1	UTSW	2	37,453,610 (GRCm39)	nonsense	probably null
R6317:Rabgap1	UTSW	2	37,432,659 (GRCm39)	missense	possibly damaging	0.88
R7011:Rabgap1	UTSW	2	37,430,492 (GRCm39)	missense	probably damaging	1.00
R7014:Rabgap1	UTSW	2	37,450,575 (GRCm39)	missense	probably benign	0.08
R7514:Rabgap1	UTSW	2	37,427,354 (GRCm39)	missense	probably damaging	1.00
R7543:Rabgap1	UTSW	2	37,359,444 (GRCm39)	missense	probably damaging	0.99
R7599:Rabgap1	UTSW	2	37,392,908 (GRCm39)	frame shift	probably null
R7709:Rabgap1	UTSW	2	37,427,339 (GRCm39)	missense	possibly damaging	0.89
R7784:Rabgap1	UTSW	2	37,377,544 (GRCm39)	missense	possibly damaging	0.91
R7816:Rabgap1	UTSW	2	37,453,476 (GRCm39)	missense	probably benign	0.01
R7834:Rabgap1	UTSW	2	37,359,419 (GRCm39)	intron	probably benign
R7869:Rabgap1	UTSW	2	37,377,142 (GRCm39)	missense	probably benign	0.31
R7888:Rabgap1	UTSW	2	37,427,319 (GRCm39)	nonsense	probably null
R7949:Rabgap1	UTSW	2	37,453,491 (GRCm39)	missense	probably benign	0.44
R8084:Rabgap1	UTSW	2	37,427,317 (GRCm39)	missense	probably damaging	1.00
R8333:Rabgap1	UTSW	2	37,385,710 (GRCm39)	missense	probably benign
R8440:Rabgap1	UTSW	2	37,432,692 (GRCm39)	critical splice donor site	probably null
R9210:Rabgap1	UTSW	2	37,377,152 (GRCm39)	missense	probably damaging	0.96
R9212:Rabgap1	UTSW	2	37,377,152 (GRCm39)	missense	probably damaging	0.96
R9574:Rabgap1	UTSW	2	37,433,246 (GRCm39)	splice site	probably null
Z1176:Rabgap1	UTSW	2	37,450,556 (GRCm39)	missense	probably benign	0.06
Z1177:Rabgap1	UTSW	2	37,359,540 (GRCm39)	missense	probably benign	0.00

Posted On

2013-11-11