Mutagenetix > Incidental Mutation

Incidental Mutation 'R9061:Garin1b'

688971

Institutional Source

Beutler Lab

Gene Symbol

Garin1b

Ensembl Gene

ENSMUSG00000039742

Gene Name

golgi associated RAB2 interactor 1B

Synonyms

LOC330277, Fam71f1

MMRRC Submission

068887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29319139-29336018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29323902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 209 (T209I)

Ref Sequence

ENSEMBL: ENSMUSP00000126496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090487] [ENSMUST00000163229] [ENSMUST00000164560] [ENSMUST00000166462]

AlphaFold

Q3UZD7

Predicted Effect

probably benign
Transcript: ENSMUST00000090487
AA Change: T209I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087973
Gene: ENSMUSG00000039742
AA Change: T209I

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
Pfam:DUF3699	136	210	5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163229

SMART Domains

Protein: ENSMUSP00000132402
Gene: ENSMUSG00000039742

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164560
AA Change: T209I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126496
Gene: ENSMUSG00000039742
AA Change: T209I

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
Pfam:DUF3699	137	208	7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166462
AA Change: T209I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132703
Gene: ENSMUSG00000039742
AA Change: T209I

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
Pfam:DUF3699	136	210	3.1e-29	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,133 (GRCm39)	M1T	probably null	Het
Abca13	A	G	11: 9,227,847 (GRCm39)	E630G	probably benign	Het
Abcf2	T	A	5: 24,778,504 (GRCm39)	H218L	possibly damaging	Het
Abo	A	T	2: 26,733,395 (GRCm39)	M268K	probably benign	Het
Ankrd33	G	T	15: 101,014,029 (GRCm39)		probably benign	Het
Apc	G	C	18: 34,446,251 (GRCm39)	R1049T	probably damaging	Het
Atg16l2	T	C	7: 100,941,338 (GRCm39)	K412E	probably damaging	Het
Cachd1	G	A	4: 100,809,202 (GRCm39)		probably null	Het
Ccdc152	T	G	15: 3,330,643 (GRCm39)	K11Q	probably damaging	Het
Ccdc38	T	A	10: 93,401,735 (GRCm39)	W232R	probably damaging	Het
Cluh	C	T	11: 74,551,192 (GRCm39)	P347L	possibly damaging	Het
Cntn3	A	G	6: 102,314,288 (GRCm39)	L142P	probably damaging	Het
Ctnnd2	T	A	15: 30,806,884 (GRCm39)	M601K	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,734 (GRCm39)	D209N	unknown	Het
Dcaf6	A	T	1: 165,164,332 (GRCm39)	N814K	probably damaging	Het
Dhx8	A	T	11: 101,632,406 (GRCm39)	D455V	possibly damaging	Het
Fcna	A	C	2: 25,514,956 (GRCm39)	L301W	possibly damaging	Het
Gdf9	T	G	11: 53,324,269 (GRCm39)	C13G	probably damaging	Het
Hells	T	A	19: 38,933,858 (GRCm39)	N226K	probably damaging	Het
Hes6	A	G	1: 91,340,061 (GRCm39)	S132P	probably damaging	Het
Ifi207	A	T	1: 173,564,153 (GRCm39)		probably benign	Het
Ighv16-1	A	T	12: 114,032,504 (GRCm39)	Y99*	probably null	Het
Kirrel2	T	C	7: 30,150,305 (GRCm39)	I508V	probably benign	Het
Klhl38	T	A	15: 58,186,022 (GRCm39)	I236F	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lamc1	A	T	1: 153,126,870 (GRCm39)	C425*	probably null	Het
Letm1	A	G	5: 33,918,213 (GRCm39)	F311L	probably damaging	Het
Lypd11	A	T	7: 24,422,173 (GRCm39)	I192N	possibly damaging	Het
Mapk8ip2	T	C	15: 89,342,016 (GRCm39)	V409A	possibly damaging	Het
Mybpc1	C	T	10: 88,391,501 (GRCm39)	C318Y	probably damaging	Het
Myo15a	A	G	11: 60,393,692 (GRCm39)	Y1141C		Het
Ndufv2	T	A	17: 66,390,475 (GRCm39)	D165V	probably damaging	Het
Nrde2	T	C	12: 100,110,123 (GRCm39)	K303E	probably benign	Het
Nup205	T	A	6: 35,196,808 (GRCm39)		probably benign	Het
Or1j12	A	G	2: 36,342,897 (GRCm39)	Q100R	probably damaging	Het
Or2f2	A	T	6: 42,767,141 (GRCm39)	H56L	probably damaging	Het
Or5b118	A	G	19: 13,448,523 (GRCm39)	N21S	probably damaging	Het
Otof	C	T	5: 30,546,001 (GRCm39)	V451I	possibly damaging	Het
Pask	G	A	1: 93,253,191 (GRCm39)	Q399*	probably null	Het
Pbk	T	A	14: 66,049,439 (GRCm39)	F39I	probably benign	Het
Pdzd2	T	C	15: 12,374,753 (GRCm39)	K1794R	possibly damaging	Het
Pibf1	T	C	14: 99,424,069 (GRCm39)		probably null	Het
Ppip5k2	G	A	1: 97,645,187 (GRCm39)	T1089I	probably damaging	Het
Ppp1cb	T	A	5: 32,635,492 (GRCm39)	F45L	possibly damaging	Het
Pramel21	T	G	4: 143,342,741 (GRCm39)	S283A	possibly damaging	Het
Samd4	T	C	14: 47,301,728 (GRCm39)	F344S	probably damaging	Het
Slc2a13	C	T	15: 91,234,333 (GRCm39)	M334I	possibly damaging	Het
Slc37a1	C	T	17: 31,556,365 (GRCm39)	A363V	probably damaging	Het
Slc8a3	T	A	12: 81,263,540 (GRCm39)	I616F	probably damaging	Het
Srcin1	A	G	11: 97,427,206 (GRCm39)	L257P	probably damaging	Het
Tarbp1	A	G	8: 127,173,880 (GRCm39)	F945L	probably damaging	Het
Thbs4	A	T	13: 92,911,187 (GRCm39)		probably null	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim62	G	A	4: 128,802,963 (GRCm39)	V338M	probably damaging	Het
Ttll9	C	T	2: 152,818,113 (GRCm39)	H20Y	possibly damaging	Het
Uevld	A	T	7: 46,587,806 (GRCm39)	I298N	probably damaging	Het
Zan	T	C	5: 137,462,653 (GRCm39)	E842G	probably damaging	Het
Zdbf2	T	G	1: 63,346,296 (GRCm39)	S1558R		Het

Other mutations in Garin1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Garin1b	APN	6	29,320,700 (GRCm39)	missense	probably damaging	0.99
IGL02342:Garin1b	APN	6	29,323,829 (GRCm39)	missense	possibly damaging	0.87
R0402:Garin1b	UTSW	6	29,323,901 (GRCm39)	missense	probably benign	0.01
R0467:Garin1b	UTSW	6	29,326,606 (GRCm39)	missense	probably damaging	1.00
R0610:Garin1b	UTSW	6	29,326,576 (GRCm39)	missense	probably benign	0.01
R1773:Garin1b	UTSW	6	29,334,152 (GRCm39)	missense	possibly damaging	0.83
R1950:Garin1b	UTSW	6	29,335,815 (GRCm39)	splice site	probably null
R4259:Garin1b	UTSW	6	29,320,800 (GRCm39)	missense	probably damaging	1.00
R4305:Garin1b	UTSW	6	29,326,611 (GRCm39)	missense	probably damaging	1.00
R4351:Garin1b	UTSW	6	29,320,800 (GRCm39)	missense	probably damaging	1.00
R4508:Garin1b	UTSW	6	29,323,764 (GRCm39)	missense	probably benign	0.04
R5014:Garin1b	UTSW	6	29,326,723 (GRCm39)	intron	probably benign
R5249:Garin1b	UTSW	6	29,323,896 (GRCm39)	missense	probably damaging	1.00
R5506:Garin1b	UTSW	6	29,319,297 (GRCm39)	missense	probably damaging	1.00
R6212:Garin1b	UTSW	6	29,319,373 (GRCm39)	missense	probably damaging	1.00
R6456:Garin1b	UTSW	6	29,334,045 (GRCm39)	missense	probably benign
R6949:Garin1b	UTSW	6	29,323,905 (GRCm39)	missense	probably damaging	1.00
R7047:Garin1b	UTSW	6	29,323,809 (GRCm39)	missense	probably damaging	1.00
R7562:Garin1b	UTSW	6	29,323,833 (GRCm39)	missense	probably damaging	1.00
R8346:Garin1b	UTSW	6	29,334,030 (GRCm39)	missense	probably damaging	1.00
X0065:Garin1b	UTSW	6	29,326,660 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTGAAGTTTGTGGAGCTCC -3'
(R):5'- AGCAAATGTACTTAGCAAGGGC -3'

Sequencing Primer
(F):5'- TTGAGGACAGTCACCGA -3'
(R):5'- ATAAGTGCTACCGTGTCTGGAAC -3'

Posted On

2021-11-19