Mutagenetix > Incidental Mutation

Incidental Mutation 'R4232:Garin3'

320919

Institutional Source

Beutler Lab

Gene Symbol

Garin3

Ensembl Gene

ENSMUSG00000020401

Gene Name

golgi associated RAB2 interactor 3

Synonyms

Fam71b, OTTMUSG00000005491

MMRRC Submission

041051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4232 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46295555-46298812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46298232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 512 (T512K)

Ref Sequence

ENSEMBL: ENSMUSP00000055079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063166]

AlphaFold

Q5STT6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063166
AA Change: T512K

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000055079
Gene: ENSMUSG00000020401
AA Change: T512K

Domain	Start	End	E-Value	Type
Pfam:DUF3699	120	192	1.2e-32	PFAM
low complexity region	241	361	N/A	INTRINSIC
low complexity region	497	523	N/A	INTRINSIC
low complexity region	551	575	N/A	INTRINSIC
SCOP:d1g7sa3	586	650	1e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139280

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (58/63)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Ajuba	T	C	14: 54,806,983 (GRCm39)	R490G	probably damaging	Het
Akap6	T	A	12: 53,186,454 (GRCm39)	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,891,948 (GRCm39)	V161A	probably damaging	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
Aven	A	G	2: 112,458,113 (GRCm39)	D167G	probably damaging	Het
Celsr2	A	G	3: 108,321,088 (GRCm39)	F575L	probably benign	Het
Cflar	A	T	1: 58,780,152 (GRCm39)	Q249L	possibly damaging	Het
Col7a1	G	A	9: 108,801,881 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,327,193 (GRCm39)	D944G	possibly damaging	Het
Dnah1	T	C	14: 31,026,873 (GRCm39)	N717S	probably benign	Het
Dnaja3	T	A	16: 4,517,735 (GRCm39)	N322K	possibly damaging	Het
Dnajb3	A	G	1: 88,132,974 (GRCm39)	S143P	possibly damaging	Het
Dtx3	A	G	10: 127,029,058 (GRCm39)	I60T	possibly damaging	Het
Dvl3	A	G	16: 20,342,983 (GRCm39)		probably benign	Het
Fkbp7	A	T	2: 76,493,661 (GRCm39)	D177E	possibly damaging	Het
Galnt7	T	C	8: 58,106,000 (GRCm39)	I5V	probably benign	Het
Helz2	A	T	2: 180,871,695 (GRCm39)	L2639Q	probably damaging	Het
Hnrnpr	T	C	4: 136,066,500 (GRCm39)	M394T	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kif14	T	A	1: 136,444,101 (GRCm39)	C1364*	probably null	Het
Macf1	T	C	4: 123,326,185 (GRCm39)	E5104G	probably damaging	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Mrtfa	T	A	15: 80,907,796 (GRCm39)	K29M	probably damaging	Het
Mtbp	CATGA	CATGAATGA	15: 55,484,073 (GRCm39)		probably null	Het
Nfkb1	A	G	3: 135,309,531 (GRCm39)	V521A	probably damaging	Het
Or2b7	T	C	13: 21,739,631 (GRCm39)	D187G	probably damaging	Het
Or7g32	G	T	9: 19,389,022 (GRCm39)	L175M	probably damaging	Het
P2rx6	T	C	16: 17,388,631 (GRCm39)	L335P	probably damaging	Het
Pcdhga5	A	G	18: 37,829,001 (GRCm39)	D483G	possibly damaging	Het
Pgpep1l	T	C	7: 67,886,827 (GRCm39)	T161A	probably benign	Het
Prss40	A	G	1: 34,599,873 (GRCm39)	V38A	probably benign	Het
Ptk2	C	A	15: 73,181,698 (GRCm39)	R104L	possibly damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rtp4	A	G	16: 23,431,833 (GRCm39)	N122D	possibly damaging	Het
Samd8	A	G	14: 21,830,213 (GRCm39)	Y213C	probably benign	Het
Shcbp1	T	A	8: 4,786,372 (GRCm39)	T577S	probably benign	Het
Tiprl	A	G	1: 165,050,156 (GRCm39)	V153A	probably damaging	Het
Tmprss7	A	T	16: 45,476,936 (GRCm39)	D775E	probably damaging	Het
Tnr	T	C	1: 159,713,785 (GRCm39)	S738P	possibly damaging	Het
Tsc22d4	T	C	5: 137,749,632 (GRCm39)		probably null	Het
Ttc21a	A	T	9: 119,771,684 (GRCm39)	H161L	probably benign	Het
Ubqln3	T	A	7: 103,791,010 (GRCm39)	E360V	probably benign	Het
Ugt1a10	C	A	1: 87,983,932 (GRCm39)	D243E	probably benign	Het
Vmn2r19	G	A	6: 123,306,871 (GRCm39)	V460I	probably benign	Het
Vmn2r58	T	A	7: 41,487,011 (GRCm39)	Y628F	possibly damaging	Het
Wnk1	A	T	6: 119,926,222 (GRCm39)	S1588T	possibly damaging	Het
Wscd2	A	G	5: 113,699,045 (GRCm39)	D200G	probably benign	Het
Zfp831	G	C	2: 174,547,447 (GRCm39)	W1543C	possibly damaging	Het

Other mutations in Garin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:Garin3	APN	11	46,296,224 (GRCm39)	nonsense	probably null
IGL02375:Garin3	APN	11	46,297,379 (GRCm39)	missense	probably damaging	0.99
IGL02571:Garin3	APN	11	46,296,072 (GRCm39)	missense	probably damaging	0.99
R0013:Garin3	UTSW	11	46,297,631 (GRCm39)	missense	unknown
R1902:Garin3	UTSW	11	46,297,838 (GRCm39)	missense	probably benign	0.44
R1985:Garin3	UTSW	11	46,298,693 (GRCm39)	makesense	probably null
R2079:Garin3	UTSW	11	46,295,934 (GRCm39)	missense	probably benign	0.14
R2151:Garin3	UTSW	11	46,296,158 (GRCm39)	nonsense	probably null
R2857:Garin3	UTSW	11	46,296,039 (GRCm39)	missense	probably damaging	1.00
R2859:Garin3	UTSW	11	46,296,039 (GRCm39)	missense	probably damaging	1.00
R3807:Garin3	UTSW	11	46,295,780 (GRCm39)	missense	possibly damaging	0.77
R4342:Garin3	UTSW	11	46,298,043 (GRCm39)	missense	possibly damaging	0.67
R4679:Garin3	UTSW	11	46,295,640 (GRCm39)	missense	possibly damaging	0.68
R5119:Garin3	UTSW	11	46,297,863 (GRCm39)	missense	probably damaging	1.00
R5207:Garin3	UTSW	11	46,295,990 (GRCm39)	missense	probably benign	0.13
R5540:Garin3	UTSW	11	46,295,715 (GRCm39)	missense	probably damaging	0.99
R6618:Garin3	UTSW	11	46,298,126 (GRCm39)	missense	probably damaging	1.00
R6862:Garin3	UTSW	11	46,298,418 (GRCm39)	missense	possibly damaging	0.78
R7036:Garin3	UTSW	11	46,298,235 (GRCm39)	missense
R7489:Garin3	UTSW	11	46,298,268 (GRCm39)	missense
R7809:Garin3	UTSW	11	46,298,631 (GRCm39)	missense
R7822:Garin3	UTSW	11	46,295,730 (GRCm39)	missense
R7996:Garin3	UTSW	11	46,295,889 (GRCm39)	missense
R8984:Garin3	UTSW	11	46,295,695 (GRCm39)	nonsense	probably null
R9324:Garin3	UTSW	11	46,295,810 (GRCm39)	missense
R9532:Garin3	UTSW	11	46,297,673 (GRCm39)	missense
Z1088:Garin3	UTSW	11	46,298,550 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGAACGTGGCATTTGCAGG -3'
(R):5'- GTAGCTCTCTTACTCACAGACC -3'

Sequencing Primer
(F):5'- GGCAGCATCAAGACCAAGTCG -3'
(R):5'- AAGCCAGCTGGTGATCGGTTC -3'

Posted On

2015-06-12