Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Rabgap1'

503304

Institutional Source

Beutler Lab

Gene Symbol

Rabgap1

Ensembl Gene

ENSMUSG00000035437

Gene Name

RAB GTPase activating protein 1

Synonyms

Gapcena

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37333291-37456466 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 37453610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1013 (K1013*)

Ref Sequence

ENSEMBL: ENSMUSP00000108542 (fasta)

Gene Model

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

AlphaFold

A2AWA9

Predicted Effect

probably null
Transcript: ENSMUST00000061179
AA Change: K1013*

SMART Domains

Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: K1013*

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 null
Transcript: ENSMUST00000112920
AA Change: K1013*

SMART Domains

Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: K1013*

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,519,230 (GRCm39)	V366D	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677 (GRCm39)	K528R	probably benign	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Jph1	C	A	1: 17,167,810 (GRCm39)	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matk	T	G	10: 81,095,422 (GRCm39)	W81G	probably damaging	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Mtr	A	G	13: 12,205,278 (GRCm39)	S1061P	probably benign	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
P4ha3	G	T	7: 99,966,292 (GRCm39)	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068 (GRCm39)	T671I	probably damaging	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	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
IGL01456:Rabgap1	APN	2	37,431,187 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GACAGAGTACCATCTTTGGAGG -3'
(R):5'- AGGATAAGTGTTCTCCGCAG -3'

Sequencing Primer
(F):5'- CTTCTGGTGTTCACTTCAGCAAAAGG -3'
(R):5'- CAGGAGGGCTGTGGTCAG -3'

Posted On

2018-02-27