Mutagenetix > Incidental Mutation

Incidental Mutation 'R2857:Garin3'

252507

Institutional Source

Beutler Lab

Gene Symbol

Garin3

Ensembl Gene

ENSMUSG00000020401

Gene Name

golgi associated RAB2 interactor 3

Synonyms

Fam71b, OTTMUSG00000005491

MMRRC Submission

040447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46295555-46298812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46296039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 137 (I137T)

Ref Sequence

ENSEMBL: ENSMUSP00000055079 (fasta)

Gene Model

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

AlphaFold

Q5STT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000063166
AA Change: I137T

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

SMART Domains

Protein: ENSMUSP00000055079
Gene: ENSMUSG00000020401
AA Change: I137T

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: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330087D11Rik	A	T	7: 29,273,303 (GRCm39)		noncoding transcript	Het
Amfr	A	T	8: 94,731,842 (GRCm39)	N11K	probably damaging	Het
Bpifa6	G	A	2: 153,831,194 (GRCm39)	M253I	probably benign	Het
C330018D20Rik	A	G	18: 57,095,531 (GRCm39)	L18P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh23	C	T	10: 60,218,432 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,173,442 (GRCm39)	I249F	probably damaging	Het
Cfap54	C	T	10: 92,881,144 (GRCm39)	R348Q	probably damaging	Het
Cfap91	A	C	16: 38,123,075 (GRCm39)	L651R	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cuzd1	C	T	7: 130,917,863 (GRCm39)	V246M	probably damaging	Het
Ehd2	A	T	7: 15,698,054 (GRCm39)	V61E	probably damaging	Het
Erich5	C	T	15: 34,471,560 (GRCm39)	T263I	probably damaging	Het
Fbxo36	A	G	1: 84,874,316 (GRCm39)	K104R	probably benign	Het
Fibin	C	T	2: 110,192,542 (GRCm39)	R200H	probably damaging	Het
Gad2	A	C	2: 22,563,987 (GRCm39)	M397L	probably benign	Het
Iqgap3	C	A	3: 88,014,903 (GRCm39)	S873*	probably null	Het
Kcnh8	A	G	17: 53,284,961 (GRCm39)	D977G	probably benign	Het
Mau2	T	C	8: 70,472,474 (GRCm39)	M570V	probably benign	Het
Mrgprb4	T	A	7: 47,848,084 (GRCm39)	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,335,699 (GRCm39)	Y258H	probably damaging	Het
Nexn	C	T	3: 151,953,680 (GRCm39)	E247K	probably damaging	Het
Or11g27	T	A	14: 50,770,897 (GRCm39)	N9K	probably benign	Het
Or3a10	C	T	11: 73,935,653 (GRCm39)	G149D	possibly damaging	Het
Or9e1	T	A	11: 58,732,708 (GRCm39)	V256E	probably benign	Het
Phrf1	T	A	7: 140,839,593 (GRCm39)		probably benign	Het
Prc1	A	G	7: 79,961,969 (GRCm39)	N52S	probably damaging	Het
Psd	G	C	19: 46,312,859 (GRCm39)	S170R	probably benign	Het
Riok1	T	C	13: 38,233,053 (GRCm39)	F229L	probably damaging	Het
Slco1a7	A	G	6: 141,690,264 (GRCm39)	V163A	probably benign	Het
Stat2	A	G	10: 128,112,770 (GRCm39)		probably null	Het
Sycp3	A	G	10: 88,303,234 (GRCm39)	E166G	probably damaging	Het
Szt2	G	A	4: 118,226,599 (GRCm39)	T510I	probably damaging	Het
Trank1	A	T	9: 111,196,001 (GRCm39)	T1342S	probably benign	Het
Trav3-1	C	A	14: 52,818,515 (GRCm39)	A63E	probably benign	Het
Trim34b	A	T	7: 103,985,439 (GRCm39)	N358I	probably benign	Het
Trmt11	G	C	10: 30,423,744 (GRCm39)	P387R	probably damaging	Het
Vmn2r82	T	A	10: 79,217,090 (GRCm39)	I474N	probably damaging	Het
Vrk2	C	A	11: 26,433,324 (GRCm39)	S286I	possibly damaging	Het
Wdfy3	A	T	5: 102,023,796 (GRCm39)	I2451N	probably benign	Het
Zfp326	G	A	5: 106,036,395 (GRCm39)	R102H	probably benign	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
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
R4232:Garin3	UTSW	11	46,298,232 (GRCm39)	missense	possibly damaging	0.51
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'- ATGGTGACTGTGTGCATCGC -3'
(R):5'- TACAAGTGTGCTTTTGGTGTCAAC -3'

Sequencing Primer
(F):5'- GTGTGCATCGCATCTACCAG -3'
(R):5'- AACGCTTGTCTCGCCAGTG -3'

Posted On

2014-12-04