Mutagenetix > Incidental Mutations

Incidental Mutation 'R7784:Rabgap1'

599424

Institutional Source

Beutler Lab

Gene Symbol

Rabgap1

Ensembl Gene

ENSMUSG00000035437

Gene Name

RAB GTPase activating protein 1

Synonyms

Gapcena

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37443279-37566454 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37487532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 347 (S347N)

Ref Sequence

ENSEMBL: ENSMUSP00000061624 (fasta)

Gene Model

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

AlphaFold

A2AWA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061179
AA Change: S347N

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: S347N

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: S347N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: S347N

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

possibly damaging
Transcript: ENSMUST00000112920
AA Change: S347N

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: S347N

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

possibly damaging
Transcript: ENSMUST00000133434
AA Change: S347N

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121963
Gene: ENSMUSG00000035437
AA Change: S347N

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	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
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
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
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
Z1176:Rabgap1	UTSW	2	37560544	missense	probably benign	0.06
Z1177:Rabgap1	UTSW	2	37469528	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCTAACAAAGAACTTGCCATTG -3'
(R):5'- AGACTTGTAACTCCCATGTCCC -3'

Sequencing Primer
(F):5'- CTAACAAAGAACTTGCCATTGAAAGG -3'
(R):5'- GCTTTGTTGCTTACACAAACAC -3'

Posted On

2019-11-26