Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02209:Garnl3'

284618

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

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL02209

Quality Score

Status

Chromosome

Chromosomal Location

32986224-33131654 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33085930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 93 (D93G)

Ref Sequence

ENSEMBL: ENSMUSP00000123601 (fasta)

Gene Model

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

AlphaFold

Q3V0G7

Predicted Effect

probably benign
Transcript: ENSMUST00000049618
AA Change: D12G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: D12G

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
AA Change: D8G

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: D8G

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 damaging
Transcript: ENSMUST00000124000
AA Change: D93G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123601
Gene: ENSMUSG00000038860
AA Change: D93G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127509

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133135
AA Change: D53G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135296

Predicted Effect

probably benign
Transcript: ENSMUST00000137381
AA Change: D53G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

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
Abcf1	C	T	17: 35,964,009	R82Q	probably damaging	Het
Acmsd	A	G	1: 127,759,755	Y258C	probably damaging	Het
Anapc5	A	G	5: 122,800,613	I366T	possibly damaging	Het
Crkl	C	T	16: 17,469,234	T218I	probably benign	Het
Egf	A	T	3: 129,707,307	I213K	possibly damaging	Het
Fry	A	G	5: 150,437,026	T33A	probably benign	Het
Hook3	C	T	8: 26,070,265	D311N	probably damaging	Het
Iglv3	T	C	16: 19,241,670	T4A	probably benign	Het
Kctd17	A	G	15: 78,435,592	N70S	probably damaging	Het
Kmt2d	T	C	15: 98,854,567		probably benign	Het
Lrif1	A	C	3: 106,731,729	L18F	probably damaging	Het
Mfsd1	A	G	3: 67,598,132		probably benign	Het
Msh4	A	G	3: 153,888,862	Y101H	probably damaging	Het
Mycbpap	G	A	11: 94,509,882		probably benign	Het
Myt1	A	G	2: 181,797,234	D183G	probably benign	Het
Nppc	T	C	1: 86,669,665	*127W	probably null	Het
Olfr119	G	A	17: 37,700,992	M107I	probably damaging	Het
Olfr138	A	G	17: 38,275,232	I154V	probably benign	Het
Olfr356	C	T	2: 36,937,505	P129S	probably damaging	Het
Olfr641	T	G	7: 104,040,456	L220R	probably damaging	Het
Olfr918	T	C	9: 38,673,046	K146E	possibly damaging	Het
Pde5a	A	G	3: 122,825,015		probably benign	Het
Pkd1l3	T	C	8: 109,638,664	V1139A	probably damaging	Het
Pwwp2b	G	A	7: 139,255,105	R154Q	probably damaging	Het
Satb2	C	T	1: 56,871,518	V264I	probably damaging	Het
Slc6a2	T	A	8: 92,994,060	F435Y	probably benign	Het
Stmn2	T	C	3: 8,560,261		probably benign	Het
Synj1	A	G	16: 90,987,419	I277T	probably damaging	Het
Trio	C	T	15: 27,744,053	A2598T	probably damaging	Het
Tshz2	G	A	2: 169,884,764	V427M	probably damaging	Het
Utrn	A	G	10: 12,683,295	S1405P	probably damaging	Het
Vmn1r173	G	A	7: 23,703,161	V274I	probably benign	Het
Vmn2r116	T	C	17: 23,388,787	F443S	probably damaging	Het
Vps13d	C	A	4: 145,156,101	R974L	probably damaging	Het
Wapl	T	A	14: 34,677,261	S96T	possibly damaging	Het
Zfp516	A	G	18: 82,994,497	D1125G	probably benign	Het
Zfp692	C	T	11: 58,313,998	R395*	probably null	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
IGL02434:Garnl3	APN	2	33054205	missense	probably damaging	1.00
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
R7919:Garnl3	UTSW	2	33046599	missense	probably benign	0.38
R8079:Garnl3	UTSW	2	33018499	critical splice donor site	probably null
R8087:Garnl3	UTSW	2	33045536	missense	probably benign	0.01
R8123:Garnl3	UTSW	2	33104938	missense	probably damaging	0.97
R8170:Garnl3	UTSW	2	33015223	missense	possibly damaging	0.88
R8347:Garnl3	UTSW	2	33085891	missense	probably damaging	1.00
R8418:Garnl3	UTSW	2	33052146	missense	possibly damaging	0.73
R8679:Garnl3	UTSW	2	33026094	missense	probably damaging	1.00
R8940:Garnl3	UTSW	2	33005229	critical splice acceptor site	probably null
R9081:Garnl3	UTSW	2	33006908	missense	possibly damaging	0.90
R9183:Garnl3	UTSW	2	33005068	missense	probably damaging	1.00
R9213:Garnl3	UTSW	2	33005068	missense	probably damaging	1.00
R9219:Garnl3	UTSW	2	33085886	missense	probably damaging	1.00
R9453:Garnl3	UTSW	2	33003869	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