Mutagenetix > Incidental Mutation

Incidental Mutation 'R8940:Garnl3'

680886

Institutional Source

Beutler Lab

Gene Symbol

Garnl3

Ensembl Gene

ENSMUSG00000038860

Gene Name

GTPase activating RANGAP domain-like 3

Synonyms

MMRRC Submission

068780-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R8940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32876236-33021666 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 32895241 bp (GRCm39)

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 benign
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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,241,068 (GRCm39)	S1709T	probably benign	Het
Abcc12	A	G	8: 87,287,440 (GRCm39)	V135A	probably benign	Het
Alkbh3	G	T	2: 93,838,391 (GRCm39)	P60H	probably damaging	Het
Armc3	A	C	2: 19,240,393 (GRCm39)	Y50S	probably damaging	Het
Arpc4	T	C	6: 113,362,599 (GRCm39)	V70A	probably benign	Het
Atp13a4	A	G	16: 29,273,508 (GRCm39)		probably null	Het
Bco1	A	T	8: 117,857,347 (GRCm39)	Y438F	probably benign	Het
Cacna1b	C	A	2: 24,653,084 (GRCm39)		probably benign	Het
Cdh17	C	T	4: 11,783,226 (GRCm39)	S189L	probably damaging	Het
Cltc	T	C	11: 86,621,072 (GRCm39)	T312A	probably benign	Het
Crym	T	A	7: 119,794,703 (GRCm39)	N172I	probably benign	Het
Depdc7	A	G	2: 104,554,913 (GRCm39)		probably null	Het
Dnhd1	T	A	7: 105,363,854 (GRCm39)		probably benign	Het
Dntt	T	A	19: 41,046,990 (GRCm39)		probably benign	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Fat2	A	T	11: 55,147,636 (GRCm39)	L3869M	possibly damaging	Het
Gldc	C	T	19: 30,128,884 (GRCm39)	M196I	probably benign	Het
Gm17078	C	T	14: 51,846,342 (GRCm39)	V120M	probably damaging	Het
Gm5157	G	A	7: 20,918,685 (GRCm39)	S286F	probably damaging	Het
Gm6337	C	T	14: 6,055,308 (GRCm38)	C187Y	probably damaging	Het
Golgb1	A	G	16: 36,736,759 (GRCm39)	D2002G	probably damaging	Het
Gpr179	T	C	11: 97,228,675 (GRCm39)	N1160S	probably damaging	Het
Gulo	A	G	14: 66,235,040 (GRCm39)	V227A	probably benign	Het
Hlcs	G	A	16: 94,032,085 (GRCm39)	A31V	probably benign	Het
Hs1bp3	T	C	12: 8,391,980 (GRCm39)	S361P	probably benign	Het
Ifi44	G	A	3: 151,454,946 (GRCm39)	P93L	probably benign	Het
Izumo2	T	A	7: 44,362,470 (GRCm39)	M78K	probably benign	Het
Lin54	T	C	5: 100,594,530 (GRCm39)	E545G	probably damaging	Het
Map3k13	A	T	16: 21,727,454 (GRCm39)	I439F	possibly damaging	Het
Matr3	T	G	18: 35,705,640 (GRCm39)	S188R	probably damaging	Het
Mug1	A	T	6: 121,858,642 (GRCm39)	H1120L		Het
Myef2l	A	T	3: 10,153,406 (GRCm39)	L58F	probably benign	Het
Ndst4	A	G	3: 125,474,802 (GRCm39)		probably benign	Het
Nlrp3	G	A	11: 59,455,870 (GRCm39)	V889M	probably benign	Het
Or1x6	A	G	11: 50,939,455 (GRCm39)	I174V	probably benign	Het
Or2r2	A	G	6: 42,463,212 (GRCm39)	M305T	probably benign	Het
Or5g29	A	G	2: 85,421,528 (GRCm39)	I215V	probably benign	Het
Or5m5	A	T	2: 85,814,543 (GRCm39)	M120L	probably benign	Het
Or8d4	T	A	9: 40,038,480 (GRCm39)	Y259F	probably damaging	Het
P4hb	A	T	11: 120,458,828 (GRCm39)	D182E	probably benign	Het
Pcdh10	A	G	3: 45,338,620 (GRCm39)	T926A	possibly damaging	Het
Pikfyve	T	C	1: 65,286,129 (GRCm39)	S1078P	probably benign	Het
Plcl2	A	T	17: 50,915,790 (GRCm39)	D933V	probably damaging	Het
Pramel7	G	A	2: 87,321,612 (GRCm39)	T141I	probably benign	Het
Prepl	A	T	17: 85,376,354 (GRCm39)	C567S	probably damaging	Het
Prpsap1	A	T	11: 116,370,615 (GRCm39)	M114K	probably damaging	Het
Ptk2b	A	C	14: 66,407,685 (GRCm39)		probably null	Het
Rest	T	C	5: 77,430,715 (GRCm39)	F1045L	possibly damaging	Het
Rnf19a	A	G	15: 36,260,284 (GRCm39)	C254R	probably damaging	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Rsf1	GGCG	GGCGACTGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Setdb1	T	A	3: 95,263,483 (GRCm39)	M8L	probably benign	Het
Setdb2	A	G	14: 59,646,956 (GRCm39)	S536P	probably damaging	Het
Sipa1l1	T	C	12: 82,404,040 (GRCm39)	L511P	probably damaging	Het
Slc12a9	T	A	5: 137,326,755 (GRCm39)	H234L	probably benign	Het
Slc35e2	G	T	4: 155,694,542 (GRCm39)	G30W	probably damaging	Het
Slc6a15	T	C	10: 103,229,357 (GRCm39)	V132A	probably damaging	Het
Slc7a10	A	G	7: 34,899,875 (GRCm39)	T486A	probably benign	Het
Smc5	T	C	19: 23,237,126 (GRCm39)	Y235C	probably benign	Het
Sorcs3	T	C	19: 48,784,908 (GRCm39)		probably null	Het
Spata21	T	C	4: 140,832,216 (GRCm39)	L459P	probably damaging	Het
Tbc1d9	A	G	8: 83,981,452 (GRCm39)	I706M	probably damaging	Het
Tcp11	T	A	17: 28,299,204 (GRCm39)	E17V	probably damaging	Het
Tiparp	A	G	3: 65,439,299 (GRCm39)	D23G	probably benign	Het
Tmem108	A	G	9: 103,377,156 (GRCm39)	S98P	possibly damaging	Het
Tmem35b	A	G	4: 127,021,673 (GRCm39)	D56G	probably damaging	Het
Tnr	G	C	1: 159,685,867 (GRCm39)	G366A	probably damaging	Het
Ttc3	A	G	16: 94,230,358 (GRCm39)	S852G	possibly damaging	Het
Ttn	G	A	2: 76,596,938 (GRCm39)	L19992F	probably damaging	Het
Ush2a	T	A	1: 188,132,505 (GRCm39)	M909K	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Wif1	A	G	10: 120,935,684 (GRCm39)	H333R	probably benign	Het
Zfp119a	A	G	17: 56,172,551 (GRCm39)	C431R	probably damaging	Het
Zfp345	G	A	2: 150,314,277 (GRCm39)	P420L	probably benign	Het
Zfp608	C	T	18: 55,033,301 (GRCm39)	D411N	possibly damaging	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp74	A	G	7: 29,634,772 (GRCm39)	V312A	possibly damaging	Het

Other mutations in Garnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Garnl3	APN	2	32,896,828 (GRCm39)	missense	probably damaging	1.00
IGL01601:Garnl3	APN	2	32,887,701 (GRCm39)	nonsense	probably null
IGL01981:Garnl3	APN	2	32,887,741 (GRCm39)	missense	probably damaging	0.98
IGL02209:Garnl3	APN	2	32,975,942 (GRCm39)	missense	probably damaging	0.99
IGL02434:Garnl3	APN	2	32,944,217 (GRCm39)	missense	probably damaging	1.00
IGL02512:Garnl3	APN	2	32,921,150 (GRCm39)	missense	probably damaging	1.00
IGL02947:Garnl3	APN	2	32,936,606 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Garnl3	UTSW	2	32,880,770 (GRCm39)	missense	probably damaging	1.00
R0123:Garnl3	UTSW	2	32,896,816 (GRCm39)	missense	possibly damaging	0.92
R0134:Garnl3	UTSW	2	32,896,816 (GRCm39)	missense	possibly damaging	0.92
R0225:Garnl3	UTSW	2	32,896,816 (GRCm39)	missense	possibly damaging	0.92
R0551:Garnl3	UTSW	2	32,906,750 (GRCm39)	missense	probably damaging	1.00
R0691:Garnl3	UTSW	2	32,975,919 (GRCm39)	missense	probably damaging	1.00
R0693:Garnl3	UTSW	2	32,975,919 (GRCm39)	missense	probably damaging	1.00
R0737:Garnl3	UTSW	2	32,880,654 (GRCm39)	missense	probably damaging	0.98
R1350:Garnl3	UTSW	2	32,942,226 (GRCm39)	missense	probably damaging	1.00
R1691:Garnl3	UTSW	2	32,887,675 (GRCm39)	nonsense	probably null
R1791:Garnl3	UTSW	2	32,924,139 (GRCm39)	missense	probably benign	0.02
R1938:Garnl3	UTSW	2	32,895,212 (GRCm39)	missense	probably damaging	0.99
R2100:Garnl3	UTSW	2	32,936,657 (GRCm39)	missense	probably benign	0.35
R2316:Garnl3	UTSW	2	32,895,164 (GRCm39)	missense	probably damaging	1.00
R2353:Garnl3	UTSW	2	32,954,046 (GRCm39)	missense	probably damaging	1.00
R3161:Garnl3	UTSW	2	32,924,723 (GRCm39)	missense	probably damaging	1.00
R3839:Garnl3	UTSW	2	32,879,558 (GRCm39)	missense	probably benign	0.00
R3847:Garnl3	UTSW	2	32,882,240 (GRCm39)	missense	probably benign
R4871:Garnl3	UTSW	2	32,977,100 (GRCm39)	start codon destroyed	probably null	0.77
R5682:Garnl3	UTSW	2	32,944,185 (GRCm39)	missense	probably damaging	1.00
R5811:Garnl3	UTSW	2	32,896,911 (GRCm39)	missense	probably damaging	0.99
R6267:Garnl3	UTSW	2	32,994,892 (GRCm39)	missense	probably benign	0.20
R6502:Garnl3	UTSW	2	32,896,833 (GRCm39)	missense	possibly damaging	0.67
R6532:Garnl3	UTSW	2	32,921,131 (GRCm39)	missense	possibly damaging	0.87
R6639:Garnl3	UTSW	2	32,879,537 (GRCm39)	missense	possibly damaging	0.75
R6763:Garnl3	UTSW	2	32,944,208 (GRCm39)	missense	probably damaging	1.00
R6866:Garnl3	UTSW	2	32,892,785 (GRCm39)	splice site	probably null
R6913:Garnl3	UTSW	2	32,876,841 (GRCm39)	missense	possibly damaging	0.91
R7002:Garnl3	UTSW	2	32,944,205 (GRCm39)	missense	possibly damaging	0.65
R7168:Garnl3	UTSW	2	32,885,090 (GRCm39)	missense	probably damaging	1.00
R7341:Garnl3	UTSW	2	32,924,141 (GRCm39)	missense	probably damaging	1.00
R7746:Garnl3	UTSW	2	32,882,269 (GRCm39)	missense	probably damaging	1.00
R7919:Garnl3	UTSW	2	32,936,611 (GRCm39)	missense	probably benign	0.38
R8079:Garnl3	UTSW	2	32,908,511 (GRCm39)	critical splice donor site	probably null
R8087:Garnl3	UTSW	2	32,935,548 (GRCm39)	missense	probably benign	0.01
R8123:Garnl3	UTSW	2	32,994,950 (GRCm39)	missense	probably damaging	0.97
R8170:Garnl3	UTSW	2	32,905,235 (GRCm39)	missense	possibly damaging	0.88
R8347:Garnl3	UTSW	2	32,975,903 (GRCm39)	missense	probably damaging	1.00
R8418:Garnl3	UTSW	2	32,942,158 (GRCm39)	missense	possibly damaging	0.73
R8679:Garnl3	UTSW	2	32,916,106 (GRCm39)	missense	probably damaging	1.00
R9081:Garnl3	UTSW	2	32,896,920 (GRCm39)	missense	possibly damaging	0.90
R9183:Garnl3	UTSW	2	32,895,080 (GRCm39)	missense	probably damaging	1.00
R9213:Garnl3	UTSW	2	32,895,080 (GRCm39)	missense	probably damaging	1.00
R9219:Garnl3	UTSW	2	32,975,898 (GRCm39)	missense	probably damaging	1.00
R9453:Garnl3	UTSW	2	32,893,881 (GRCm39)	missense	probably damaging	1.00
X0022:Garnl3	UTSW	2	32,912,680 (GRCm39)	missense	probably damaging	1.00
X0023:Garnl3	UTSW	2	32,916,161 (GRCm39)	missense	probably damaging	1.00
X0024:Garnl3	UTSW	2	32,895,191 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTACTGGAATTCCTCAACAGG -3'
(R):5'- AGGTTCATGCCTTTTCTAACCGTG -3'

Sequencing Primer
(F):5'- TCAACAGGAGACTCCGACAGG -3'
(R):5'- GCTGCCCATGTTCCAATGAAG -3'

Posted On

2021-08-31