Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Garnl3'

629177

Institutional Source

Beutler Lab

Gene Symbol

Garnl3

Ensembl Gene

ENSMUSG00000038860

Gene Name

GTPase activating RANGAP domain-like 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32986224-33131654 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 33018499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049618] [ENSMUST00000102810] [ENSMUST00000137381]

AlphaFold

Q3V0G7

Predicted Effect

probably null
Transcript: ENSMUST00000049618

SMART Domains

Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	202	383	3.4e-73	PFAM
Pfam:CNH	475	780	3.5e-67	PFAM
low complexity region	793	804	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102810

SMART Domains

Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	198	385	4.6e-67	PFAM
Pfam:CNH	471	776	1.8e-68	PFAM
low complexity region	789	800	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000137381

Predicted Effect

probably benign
Transcript: ENSMUST00000193171

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,083,123 (GRCm38)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,182,224 (GRCm38)		probably null	Het
Akap10	G	A	11: 61,930,054 (GRCm38)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,231,316 (GRCm38)	A27V	probably damaging	Het
Anxa8	A	G	14: 34,094,812 (GRCm38)	T246A	probably benign	Het
Arhgap5	A	G	12: 52,567,205 (GRCm38)	N1460S	probably benign	Het
Arid5b	T	G	10: 68,098,356 (GRCm38)	D572A	possibly damaging	Het
Atrn	T	A	2: 131,013,641 (GRCm38)	L1278Q	probably null	Het
AU040320	G	T	4: 126,832,160 (GRCm38)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,900,768 (GRCm38)	R2085W	probably damaging	Het
Bbx	A	T	16: 50,210,458 (GRCm38)	N649K	probably damaging	Het
BC034090	G	A	1: 155,225,286 (GRCm38)	P411S	probably damaging	Het
Calcoco2	A	T	11: 96,107,537 (GRCm38)	F20Y	probably damaging	Het
Carmil2	A	G	8: 105,686,761 (GRCm38)	R50G	probably damaging	Het
Catspere2	A	G	1: 178,046,959 (GRCm38)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,173,790 (GRCm38)	V739L	probably damaging	Het
Chit1	A	G	1: 134,144,027 (GRCm38)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,459,804 (GRCm38)	I185T	probably damaging	Het
Dctpp1	C	A	7: 127,259,389 (GRCm38)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,287,321 (GRCm38)	T760A	probably benign	Het
Dock10	C	T	1: 80,578,704 (GRCm38)	V552I	probably benign	Het
Dpcr1	T	C	17: 35,638,192 (GRCm38)	T172A	unknown	Het
Dpp8	A	G	9: 65,043,735 (GRCm38)	E151G	probably damaging	Het
Dvl2	G	C	11: 70,007,518 (GRCm38)	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,796,361 (GRCm38)	I539N	probably damaging	Het
Frat2	A	T	19: 41,847,838 (GRCm38)	L25H	probably damaging	Het
Gh	T	C	11: 106,301,427 (GRCm38)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,325,738 (GRCm38)	V61A	probably damaging	Het
Gm6614	T	G	6: 141,987,734 (GRCm38)	M462L	probably benign	Het
Gm9925	T	C	18: 74,065,487 (GRCm38)	V129A	unknown	Het
H2-M9	T	A	17: 36,642,133 (GRCm38)	E94V	probably benign	Het
Hira	A	T	16: 18,925,757 (GRCm38)	Q408L	probably benign	Het
Hook3	A	G	8: 26,088,058 (GRCm38)		probably null	Het
Ifi206	G	A	1: 173,481,158 (GRCm38)	P424L		Het
Impdh2	T	C	9: 108,563,325 (GRCm38)	V270A	probably benign	Het
Klhl14	A	G	18: 21,651,965 (GRCm38)	I135T	probably benign	Het
Klra10	C	A	6: 130,275,775 (GRCm38)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,302,732 (GRCm38)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,888,390 (GRCm38)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,029,552 (GRCm38)	G424C	probably damaging	Het
Limch1	A	G	5: 67,046,753 (GRCm38)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,565,530 (GRCm38)		probably null	Het
Lrrc17	C	T	5: 21,561,071 (GRCm38)	R184W	probably damaging	Het
Mllt10	A	G	2: 18,123,756 (GRCm38)	N183D	probably damaging	Het
Mterf2	C	T	10: 85,120,163 (GRCm38)	G199D	probably damaging	Het
Nat8f4	A	T	6: 85,900,994 (GRCm38)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,937,532 (GRCm38)	E238*	probably null	Het
Nop14	A	T	5: 34,654,461 (GRCm38)	L194H	probably damaging	Het
Obscn	T	C	11: 59,081,905 (GRCm38)	E2105G	possibly damaging	Het
Olfr1009	A	T	2: 85,722,043 (GRCm38)	T213S	probably benign	Het
Olfr1079	T	A	2: 86,538,381 (GRCm38)	H176L	possibly damaging	Het
Olfr1457	A	C	19: 13,095,284 (GRCm38)	Y121*	probably null	Het
Olfr829	A	T	9: 18,857,429 (GRCm38)	Y259F	possibly damaging	Het
Pbx3	C	T	2: 34,178,228 (GRCm38)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,146,144 (GRCm38)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,763 (GRCm38)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,045,832 (GRCm38)	S257T	probably damaging	Het
Pclo	A	T	5: 14,540,458 (GRCm38)	H924L	unknown	Het
Per3	T	A	4: 151,042,678 (GRCm38)	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,303,060 (GRCm38)	M1270K		Het
Plec	G	A	15: 76,179,550 (GRCm38)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,147,335 (GRCm38)	K198M	probably damaging	Het
Prc1	T	A	7: 80,304,767 (GRCm38)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,357,505 (GRCm38)	T57A	probably damaging	Het
Repin1	G	T	6: 48,597,345 (GRCm38)	E403*	probably null	Het
Robo4	A	G	9: 37,402,635 (GRCm38)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,785,677 (GRCm38)	V79I	probably benign	Het
Rsph3a	A	G	17: 7,979,188 (GRCm38)	K466E	probably benign	Het
Scly	A	T	1: 91,308,367 (GRCm38)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,785,053 (GRCm38)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,706,857 (GRCm38)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,992,452 (GRCm38)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,473,455 (GRCm38)	R13Q	unknown	Het
Smarcad1	A	G	6: 65,052,782 (GRCm38)	D118G	possibly damaging	Het
Sos2	T	C	12: 69,607,215 (GRCm38)	T788A	probably damaging	Het
Syvn1	A	G	19: 6,048,366 (GRCm38)	E75G	probably null	Het
Thpo	T	C	16: 20,726,394 (GRCm38)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,744,736 (GRCm38)	E78V	possibly damaging	Het
Uap1	A	G	1: 170,158,763 (GRCm38)	S217P	probably damaging	Het
Unc45a	T	G	7: 80,331,562 (GRCm38)	R497S	probably damaging	Het
Upf1	A	G	8: 70,338,884 (GRCm38)		probably null	Het
Usp47	A	T	7: 112,046,970 (GRCm38)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,218,772 (GRCm38)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,537,445 (GRCm38)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,115,471 (GRCm38)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,459,452 (GRCm38)		probably benign	Het

Other mutations in Garnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Garnl3	APN	2	33,006,816 (GRCm38)	missense	probably damaging	1.00
IGL01601:Garnl3	APN	2	32,997,689 (GRCm38)	nonsense	probably null
IGL01981:Garnl3	APN	2	32,997,729 (GRCm38)	missense	probably damaging	0.98
IGL02209:Garnl3	APN	2	33,085,930 (GRCm38)	missense	probably damaging	0.99
IGL02434:Garnl3	APN	2	33,054,205 (GRCm38)	missense	probably damaging	1.00
IGL02512:Garnl3	APN	2	33,031,138 (GRCm38)	missense	probably damaging	1.00
IGL02947:Garnl3	APN	2	33,046,594 (GRCm38)	missense	probably damaging	1.00
PIT4403001:Garnl3	UTSW	2	32,990,758 (GRCm38)	missense	probably damaging	1.00
R0123:Garnl3	UTSW	2	33,006,804 (GRCm38)	missense	possibly damaging	0.92
R0134:Garnl3	UTSW	2	33,006,804 (GRCm38)	missense	possibly damaging	0.92
R0225:Garnl3	UTSW	2	33,006,804 (GRCm38)	missense	possibly damaging	0.92
R0551:Garnl3	UTSW	2	33,016,738 (GRCm38)	missense	probably damaging	1.00
R0691:Garnl3	UTSW	2	33,085,907 (GRCm38)	missense	probably damaging	1.00
R0693:Garnl3	UTSW	2	33,085,907 (GRCm38)	missense	probably damaging	1.00
R0737:Garnl3	UTSW	2	32,990,642 (GRCm38)	missense	probably damaging	0.98
R1350:Garnl3	UTSW	2	33,052,214 (GRCm38)	missense	probably damaging	1.00
R1691:Garnl3	UTSW	2	32,997,663 (GRCm38)	nonsense	probably null
R1791:Garnl3	UTSW	2	33,034,127 (GRCm38)	missense	probably benign	0.02
R1938:Garnl3	UTSW	2	33,005,200 (GRCm38)	missense	probably damaging	0.99
R2100:Garnl3	UTSW	2	33,046,645 (GRCm38)	missense	probably benign	0.35
R2316:Garnl3	UTSW	2	33,005,152 (GRCm38)	missense	probably damaging	1.00
R2353:Garnl3	UTSW	2	33,064,034 (GRCm38)	missense	probably damaging	1.00
R3161:Garnl3	UTSW	2	33,034,711 (GRCm38)	missense	probably damaging	1.00
R3839:Garnl3	UTSW	2	32,989,546 (GRCm38)	missense	probably benign	0.00
R3847:Garnl3	UTSW	2	32,992,228 (GRCm38)	missense	probably benign
R4871:Garnl3	UTSW	2	33,087,088 (GRCm38)	start codon destroyed	probably null	0.77
R5682:Garnl3	UTSW	2	33,054,173 (GRCm38)	missense	probably damaging	1.00
R5811:Garnl3	UTSW	2	33,006,899 (GRCm38)	missense	probably damaging	0.99
R6267:Garnl3	UTSW	2	33,104,880 (GRCm38)	missense	probably benign	0.20
R6502:Garnl3	UTSW	2	33,006,821 (GRCm38)	missense	possibly damaging	0.67
R6532:Garnl3	UTSW	2	33,031,119 (GRCm38)	missense	possibly damaging	0.87
R6639:Garnl3	UTSW	2	32,989,525 (GRCm38)	missense	possibly damaging	0.75
R6763:Garnl3	UTSW	2	33,054,196 (GRCm38)	missense	probably damaging	1.00
R6866:Garnl3	UTSW	2	33,002,773 (GRCm38)	splice site	probably null
R6913:Garnl3	UTSW	2	32,986,829 (GRCm38)	missense	possibly damaging	0.91
R7002:Garnl3	UTSW	2	33,054,193 (GRCm38)	missense	possibly damaging	0.65
R7168:Garnl3	UTSW	2	32,995,078 (GRCm38)	missense	probably damaging	1.00
R7341:Garnl3	UTSW	2	33,034,129 (GRCm38)	missense	probably damaging	1.00
R7746:Garnl3	UTSW	2	32,992,257 (GRCm38)	missense	probably damaging	1.00
R7919:Garnl3	UTSW	2	33,046,599 (GRCm38)	missense	probably benign	0.38
R8087:Garnl3	UTSW	2	33,045,536 (GRCm38)	missense	probably benign	0.01
R8123:Garnl3	UTSW	2	33,104,938 (GRCm38)	missense	probably damaging	0.97
R8170:Garnl3	UTSW	2	33,015,223 (GRCm38)	missense	possibly damaging	0.88
R8347:Garnl3	UTSW	2	33,085,891 (GRCm38)	missense	probably damaging	1.00
R8418:Garnl3	UTSW	2	33,052,146 (GRCm38)	missense	possibly damaging	0.73
R8679:Garnl3	UTSW	2	33,026,094 (GRCm38)	missense	probably damaging	1.00
R8940:Garnl3	UTSW	2	33,005,229 (GRCm38)	critical splice acceptor site	probably null
R9081:Garnl3	UTSW	2	33,006,908 (GRCm38)	missense	possibly damaging	0.90
R9183:Garnl3	UTSW	2	33,005,068 (GRCm38)	missense	probably damaging	1.00
R9213:Garnl3	UTSW	2	33,005,068 (GRCm38)	missense	probably damaging	1.00
R9219:Garnl3	UTSW	2	33,085,886 (GRCm38)	missense	probably damaging	1.00
R9453:Garnl3	UTSW	2	33,003,869 (GRCm38)	missense	probably damaging	1.00
X0022:Garnl3	UTSW	2	33,022,668 (GRCm38)	missense	probably damaging	1.00
X0023:Garnl3	UTSW	2	33,026,149 (GRCm38)	missense	probably damaging	1.00
X0024:Garnl3	UTSW	2	33,005,179 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCTACTGCTTTGTAGGGAC -3'
(R):5'- CTAGTATCATAATGGCTGGTGGC -3'

Sequencing Primer
(F):5'- GTAGGGACCACGTTGTTCTCTC -3'
(R):5'- TGGCATACACTGTGCAGACTCTG -3'

Posted On

2020-06-30