Mutagenetix > Incidental Mutation

Incidental Mutation 'R7816:Rabgap1'

601507

Institutional Source

Beutler Lab

Gene Symbol

Rabgap1

Ensembl Gene

ENSMUSG00000035437

Gene Name

RAB GTPase activating protein 1

Synonyms

Gapcena

MMRRC Submission

045870-MU

Accession Numbers

Essential gene?

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

Stock #

R7816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37333291-37456466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37453476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 968 (R968L)

Ref Sequence

ENSEMBL: ENSMUSP00000108542 (fasta)

Gene Model

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

AlphaFold

A2AWA9

Predicted Effect

probably benign
Transcript: ENSMUST00000061179
AA Change: R968L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: R968L

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 benign
Transcript: ENSMUST00000112920
AA Change: R968L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: R968L

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,331,588 (GRCm39)	S1321P	probably benign	Het
Abcb1a	T	C	5: 8,736,132 (GRCm39)	V175A	possibly damaging	Het
Adamts20	T	A	15: 94,220,725 (GRCm39)	M1403L	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Amotl2	T	A	9: 102,608,853 (GRCm39)	I789K	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcar3	C	T	3: 122,220,343 (GRCm39)	T80I	probably benign	Het
Bcas1	G	T	2: 170,248,347 (GRCm39)	F181L	probably benign	Het
Cacnb1	T	C	11: 97,896,115 (GRCm39)	E389G	probably damaging	Het
Cd52	A	T	4: 133,821,199 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Coro2a	T	C	4: 46,546,809 (GRCm39)	D182G	probably benign	Het
Crp	T	C	1: 172,526,277 (GRCm39)	S121P	possibly damaging	Het
Csnka2ip	T	C	16: 64,299,852 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,448,413 (GRCm39)	D82G	probably damaging	Het
Cyp2b9	A	G	7: 25,900,517 (GRCm39)	N385S	probably benign	Het
Dppa1	A	G	11: 46,507,003 (GRCm39)	S26P	possibly damaging	Het
Eif4e3	T	C	6: 99,617,599 (GRCm39)	R91G	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Fbxl13	T	C	5: 21,748,785 (GRCm39)	Y378C	probably benign	Het
Glis2	G	A	16: 4,431,328 (GRCm39)	R285H	probably damaging	Het
Gm17174	T	A	14: 51,829,569 (GRCm39)		probably benign	Het
Golga1	G	A	2: 38,942,110 (GRCm39)	S102F	probably damaging	Het
Hdac1	A	T	4: 129,411,888 (GRCm39)	Y336N	probably damaging	Het
Hfe	G	T	13: 23,888,382 (GRCm39)	T168K	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-56	T	C	12: 115,206,846 (GRCm39)	S4G	probably benign	Het
Ino80d	A	G	1: 63,125,556 (GRCm39)	Y74H	probably damaging	Het
Ints1	A	T	5: 139,757,134 (GRCm39)	H427Q	possibly damaging	Het
Itpkb	T	A	1: 180,241,454 (GRCm39)	V708E	probably damaging	Het
Jmjd4	G	T	11: 59,341,162 (GRCm39)	G31V	probably benign	Het
Kcnh5	C	T	12: 75,023,457 (GRCm39)	C537Y	probably damaging	Het
Kcnj11	A	T	7: 45,749,281 (GRCm39)	L14Q	probably damaging	Het
Lipo4	A	T	19: 33,491,642 (GRCm39)	W114R	probably damaging	Het
Lrrc9	T	A	12: 72,542,466 (GRCm39)	I1096N	probably damaging	Het
Lyzl6	C	T	11: 103,527,680 (GRCm39)	V15I	probably benign	Het
Map4k4	A	G	1: 40,053,368 (GRCm39)	T856A	possibly damaging	Het
Mks1	T	A	11: 87,751,542 (GRCm39)	W346R	probably damaging	Het
Mtmr14	T	C	6: 113,243,263 (GRCm39)	Y32H	probably damaging	Het
Muc13	A	G	16: 33,619,386 (GRCm39)	S45G	unknown	Het
Mx2	G	A	16: 97,346,812 (GRCm39)	G93D	probably damaging	Het
Noc4l	A	T	5: 110,797,539 (GRCm39)	V365E	probably benign	Het
Odf2l	T	C	3: 144,856,776 (GRCm39)	I577T	probably damaging	Het
Or4l1	T	C	14: 50,166,622 (GRCm39)	I126M	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnoc	A	T	14: 65,639,307 (GRCm39)	I186N	possibly damaging	Het
Pou4f3	A	G	18: 42,528,251 (GRCm39)	I65V	probably benign	Het
Pramel23	G	T	4: 143,424,764 (GRCm39)	N226K	probably benign	Het
Prss1l	T	C	6: 41,371,707 (GRCm39)	L51P	probably damaging	Het
Ptpn21	G	A	12: 98,648,791 (GRCm39)	A955V	probably damaging	Het
Rarres1	T	C	3: 67,386,677 (GRCm39)	N282S	probably damaging	Het
Rgs17	T	C	10: 5,791,501 (GRCm39)	N72S	probably benign	Het
Rp1	T	A	1: 4,417,926 (GRCm39)	N1062I	probably damaging	Het
Rpn1	T	A	6: 88,080,378 (GRCm39)	V559D	possibly damaging	Het
Rrbp1	A	T	2: 143,830,855 (GRCm39)	N437K	probably damaging	Het
Rtn4r	C	A	16: 17,969,399 (GRCm39)	Q276K	probably benign	Het
Rwdd4a	T	C	8: 47,990,335 (GRCm39)	S16P	probably damaging	Het
S1pr1	A	G	3: 115,505,947 (GRCm39)	S216P	possibly damaging	Het
Scn8a	C	A	15: 100,908,917 (GRCm39)	T795K	possibly damaging	Het
Spryd3	A	C	15: 102,026,141 (GRCm39)	F401C	probably damaging	Het
Stk36	G	T	1: 74,650,328 (GRCm39)	E287*	probably null	Het
Tbc1d1	G	T	5: 64,507,095 (GRCm39)	S1104I	probably damaging	Het
Tex15	A	G	8: 34,071,683 (GRCm39)	D2410G	probably benign	Het
Tmem92	T	A	11: 94,669,784 (GRCm39)	I116F	possibly damaging	Het
Trp53bp2	A	G	1: 182,276,260 (GRCm39)	E747G	probably damaging	Het
Trp63	A	T	16: 25,707,990 (GRCm39)	D562V	probably damaging	Het
Ttc21b	A	G	2: 66,077,705 (GRCm39)	Y167H	possibly damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Uggt1	G	A	1: 36,202,396 (GRCm39)	S1067F	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,476 (GRCm39)	Y423N	probably benign	Het
Vmn2r111	A	G	17: 22,792,083 (GRCm39)	Y58H	probably damaging	Het
Ypel3	T	A	7: 126,377,013 (GRCm39)	V2E	probably damaging	Het
Ythdf3	T	C	3: 16,243,681 (GRCm39)	V34A	probably damaging	Het
Zfp180	A	T	7: 23,804,570 (GRCm39)	S330C	probably damaging	Het
Zfp292	G	A	4: 34,809,865 (GRCm39)	P1060S	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	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
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
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'- CCTCACAGTGTACAGTGGATCAAG -3'
(R):5'- ACCTGGATCTTGCATTCAGC -3'

Sequencing Primer
(F):5'- CCAAGGTCACCAGACTTT -3'
(R):5'- GCTTCTACCAGCTGCAGTTTGG -3'

Posted On

2019-12-03