Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02434:Garnl3'

293207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Garnl3

Ensembl Gene

ENSMUSG00000038860

Gene Name

GTPase activating RANGAP domain-like 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

IGL02434

Quality Score

Status

Chromosome

Chromosomal Location

32986224-33131654 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33054205 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 114 (N114I)

Ref Sequence

ENSEMBL: ENSMUSP00000119973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049618] [ENSMUST00000102810] [ENSMUST00000124000] [ENSMUST00000127509] [ENSMUST00000133135] [ENSMUST00000137381]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049618
AA Change: N73I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: N73I

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 damaging
Transcript: ENSMUST00000102810
AA Change: N69I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: N69I

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 benign
Transcript: ENSMUST00000124000

SMART Domains

Protein: ENSMUSP00000123601
Gene: ENSMUSG00000038860

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127509

Predicted Effect

probably damaging
Transcript: ENSMUST00000133135
AA Change: N114I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135296

Predicted Effect

probably damaging
Transcript: ENSMUST00000137381
AA Change: N114I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148043

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	A	15: 73,121,081	G525V	probably damaging	Het
Agxt2	T	C	15: 10,358,600	S2P	possibly damaging	Het
Atg2b	C	T	12: 105,639,207	V339I	probably benign	Het
Btc	T	A	5: 91,362,327	I136F	probably damaging	Het
Cemip	A	T	7: 83,955,284	M850K	probably damaging	Het
Cfap54	T	A	10: 93,066,754	T179S	probably benign	Het
Chd7	T	C	4: 8,752,145	L214P	probably benign	Het
Gm10010	G	T	6: 128,200,470		noncoding transcript	Het
Gstcd	A	G	3: 132,996,202		probably benign	Het
Htr2b	A	G	1: 86,110,770	V38A	probably benign	Het
Hyal4	G	A	6: 24,763,858	W339*	probably null	Het
Ifnb1	A	G	4: 88,522,518	V86A	probably damaging	Het
Itpr1	A	G	6: 108,489,922		probably null	Het
Jag1	T	C	2: 137,087,155	S794G	probably benign	Het
Kdm5c	T	A	X: 152,233,562	M1K	probably null	Het
Lct	A	G	1: 128,303,790	V774A	probably damaging	Het
Man2a2	G	A	7: 80,359,640	A822V	probably damaging	Het
Med14	A	T	X: 12,745,824	D371E	possibly damaging	Het
Nrcam	A	G	12: 44,590,243		probably benign	Het
Olfr116	T	A	17: 37,624,576	N20Y	possibly damaging	Het
Olfr670	A	T	7: 104,960,072	M220K	probably benign	Het
Olfr670	A	T	7: 104,960,074	Y219*	probably null	Het
Pitpnm1	C	T	19: 4,103,377	R178W	probably benign	Het
Prkcg	A	G	7: 3,318,890	I324V	probably benign	Het
Prpmp5	T	A	6: 132,312,376	R162W	unknown	Het
Prr30	A	T	14: 101,198,368	C253S	possibly damaging	Het
Ptgis	A	T	2: 167,240,342		probably null	Het
Rab11fip3	C	T	17: 26,068,835	A115T	possibly damaging	Het
Reps2	C	T	X: 162,526,257		probably null	Het
Rev3l	A	G	10: 39,822,591	D1028G	probably damaging	Het
Rsbn1l	T	C	5: 20,919,734	R357G	probably damaging	Het
Scn5a	A	G	9: 119,533,793	L587P	possibly damaging	Het
Tanc2	C	T	11: 105,780,042	T155I	probably benign	Het
Tfb2m	A	G	1: 179,532,135		probably benign	Het
Tfpi	A	G	2: 84,452,548		probably benign	Het
Tg	T	C	15: 66,764,342	S593P	probably damaging	Het
Unc13c	T	C	9: 73,932,628	S314G	probably benign	Het

Other mutations in Garnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Garnl3	APN	2	33006816	missense	probably damaging	1.00
IGL01601:Garnl3	APN	2	32997689	nonsense	probably null
IGL01981:Garnl3	APN	2	32997729	missense	probably damaging	0.98
IGL02209:Garnl3	APN	2	33085930	missense	probably damaging	0.99
IGL02512:Garnl3	APN	2	33031138	missense	probably damaging	1.00
IGL02947:Garnl3	APN	2	33046594	missense	probably damaging	1.00
PIT4403001:Garnl3	UTSW	2	32990758	missense	probably damaging	1.00
R0123:Garnl3	UTSW	2	33006804	missense	possibly damaging	0.92
R0134:Garnl3	UTSW	2	33006804	missense	possibly damaging	0.92
R0225:Garnl3	UTSW	2	33006804	missense	possibly damaging	0.92
R0551:Garnl3	UTSW	2	33016738	missense	probably damaging	1.00
R0691:Garnl3	UTSW	2	33085907	missense	probably damaging	1.00
R0693:Garnl3	UTSW	2	33085907	missense	probably damaging	1.00
R0737:Garnl3	UTSW	2	32990642	missense	probably damaging	0.98
R1350:Garnl3	UTSW	2	33052214	missense	probably damaging	1.00
R1691:Garnl3	UTSW	2	32997663	nonsense	probably null
R1791:Garnl3	UTSW	2	33034127	missense	probably benign	0.02
R1938:Garnl3	UTSW	2	33005200	missense	probably damaging	0.99
R2100:Garnl3	UTSW	2	33046645	missense	probably benign	0.35
R2316:Garnl3	UTSW	2	33005152	missense	probably damaging	1.00
R2353:Garnl3	UTSW	2	33064034	missense	probably damaging	1.00
R3161:Garnl3	UTSW	2	33034711	missense	probably damaging	1.00
R3839:Garnl3	UTSW	2	32989546	missense	probably benign	0.00
R3847:Garnl3	UTSW	2	32992228	missense	probably benign
R4871:Garnl3	UTSW	2	33087088	start codon destroyed	probably null	0.77
R5682:Garnl3	UTSW	2	33054173	missense	probably damaging	1.00
R5811:Garnl3	UTSW	2	33006899	missense	probably damaging	0.99
R6267:Garnl3	UTSW	2	33104880	missense	probably benign	0.20
R6502:Garnl3	UTSW	2	33006821	missense	possibly damaging	0.67
R6532:Garnl3	UTSW	2	33031119	missense	possibly damaging	0.87
R6639:Garnl3	UTSW	2	32989525	missense	possibly damaging	0.75
R6763:Garnl3	UTSW	2	33054196	missense	probably damaging	1.00
R6866:Garnl3	UTSW	2	33002773	splice site	probably null
R6913:Garnl3	UTSW	2	32986829	missense	possibly damaging	0.91
R7002:Garnl3	UTSW	2	33054193	missense	possibly damaging	0.65
R7168:Garnl3	UTSW	2	32995078	missense	probably damaging	1.00
R7341:Garnl3	UTSW	2	33034129	missense	probably damaging	1.00
R7746:Garnl3	UTSW	2	32992257	missense	probably damaging	1.00
X0022:Garnl3	UTSW	2	33022668	missense	probably damaging	1.00
X0023:Garnl3	UTSW	2	33026149	missense	probably damaging	1.00
X0024:Garnl3	UTSW	2	33005179	missense	probably damaging	0.98

Posted On

2015-04-16