Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Rabgap1'

587876

Institutional Source

Beutler Lab

Gene Symbol

Rabgap1

Ensembl Gene

ENSMUSG00000035437

Gene Name

RAB GTPase activating protein 1

Synonyms

Gapcena

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7599 (G1)

Quality Score

102.467

Status

Not validated

Chromosome

Chromosomal Location

37443279-37566454 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGGGG to TGGG at 37502896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000061624 (fasta)

Gene Model

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

AlphaFold

A2AWA9

Predicted Effect

probably null
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 null
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 null
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

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: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,381,835	H321L	probably damaging	Het
Adamts3	T	C	5: 89,861,397	S136G	probably benign	Het
Apba3	T	A	10: 81,272,346	N445K	probably damaging	Het
Aqp6	A	G	15: 99,603,771	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,500,343	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,214,151	I379T	probably damaging	Het
Ccdc169	A	G	3: 55,140,109	D7G	probably damaging	Het
Cyp2f2	T	A	7: 27,131,359		probably null	Het
Daam2	T	A	17: 49,480,727	K453*	probably null	Het
Dennd4c	T	C	4: 86,811,612	L817P	probably damaging	Het
Efcab6	T	A	15: 83,870,988	R1376W	probably damaging	Het
Esrra	G	T	19: 6,913,846	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,226,876	V392E	probably damaging	Het
Fanca	A	G	8: 123,271,260	V1229A	probably benign	Het
Fdps	G	T	3: 89,099,386	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,627,589	D1269E	probably benign	Het
Foxred1	G	A	9: 35,205,636	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,967,624	V226I	possibly damaging	Het
Gcnt2	C	A	13: 40,860,867	C171*	probably null	Het
Glyat	C	A	19: 12,639,808	A8E	probably damaging	Het
Golgb1	C	A	16: 36,875,396	R86S	unknown	Het
Hc	T	A	2: 35,050,419	T136S	probably damaging	Het
Hdac1	G	T	4: 129,517,466	S421*	probably null	Het
Hmcn2	G	T	2: 31,356,286	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,193,587	N54S	probably benign	Het
Impad1	G	A	4: 4,778,207	T177I	probably damaging	Het
Itgae	T	A	11: 73,121,960	V706E	possibly damaging	Het
Itgax	G	A	7: 128,148,090	V992M	probably damaging	Het
Klk10	A	G	7: 43,784,427	D221G	probably benign	Het
Klkb1	T	C	8: 45,278,113	I205V	probably benign	Het
Kpna2	T	C	11: 106,998,757	N8S	probably null	Het
L3mbtl1	A	C	2: 162,964,514	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,661,549	C4181Y		Het
Mcat	T	C	15: 83,547,671	Y332C	probably damaging	Het
Mecom	T	C	3: 29,956,385	D648G	probably damaging	Het
Mesp2	A	T	7: 79,810,969	D14V	probably damaging	Het
Mlh3	A	T	12: 85,268,199	Y404*	probably null	Het
Mterf3	A	T	13: 66,917,148	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,512,062	V602A	probably benign	Het
Olfr1247	T	A	2: 89,609,227	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,374,660	F209L	probably damaging	Het
Pmp22	C	A	11: 63,158,348	A139D	probably damaging	Het
Polr2e	T	C	10: 80,038,570	D34G	possibly damaging	Het
Ppard	T	A	17: 28,297,117	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,850,745	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,519	A1536V	not run	Het
Retreg1	T	A	15: 25,971,641	D222E	probably benign	Het
Rmnd1	T	C	10: 4,413,404	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sall3	C	T	18: 80,972,052	R887H	possibly damaging	Het
Samd3	A	G	10: 26,263,813	D281G	probably benign	Het
Scube1	T	A	15: 83,613,452	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 130,040,811		probably benign	Het
Slc2a2	A	G	3: 28,698,017	M1V	probably null	Het
Slc39a2	A	T	14: 51,895,031	T144S	probably benign	Het
Slc5a9	T	C	4: 111,877,740	H619R	probably benign	Het
Slco4a1	T	C	2: 180,471,255	F427L	probably benign	Het
Snapc3	C	A	4: 83,417,836	Y28*	probably null	Het
St3gal6	C	T	16: 58,473,437	R243H	probably benign	Het
Stat2	T	A	10: 128,277,197	N119K	possibly damaging	Het
Syne2	G	C	12: 75,966,371	V2779L	probably benign	Het
Tacc1	T	A	8: 25,201,285	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,151,833	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,680	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,986,224	I18T	probably benign	Het
Wdr35	G	C	12: 9,024,886	A1000P	probably benign	Het
Wnk1	C	A	6: 119,929,828	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,994,613	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,437,833	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,331,856	K265R	probably benign	Het
Zfp575	T	C	7: 24,586,668	D21G	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACGTTCCTTTACTAGACTCTTGGG -3'
(R):5'- TCCTGAGTGAGATCTTATTTGCAG -3'

Sequencing Primer
(F):5'- GTGACATGGTTTTGAACATAAAACTG -3'
(R):5'- GCAGATCTCTGTTATTGGTTCCAG -3'

Posted On

2019-10-24