Mutagenetix > Incidental Mutation

Incidental Mutation 'R4508:Garin1b'

331064

Institutional Source

Beutler Lab

Gene Symbol

Garin1b

Ensembl Gene

ENSMUSG00000039742

Gene Name

golgi associated RAB2 interactor 1B

Synonyms

LOC330277, Fam71f1

MMRRC Submission

041757-MU

Accession Numbers

Essential gene?

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

Stock #

R4508 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29319139-29336018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29323764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000132703 (fasta)

Gene Model

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

AlphaFold

Q3UZD7

Predicted Effect

probably benign
Transcript: ENSMUST00000090487
AA Change: V163A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087973
Gene: ENSMUSG00000039742
AA Change: V163A

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: V163A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000126496
Gene: ENSMUSG00000039742
AA Change: V163A

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: V163A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132703
Gene: ENSMUSG00000039742
AA Change: V163A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171782

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,746,275 (GRCm39)		probably benign	Het
Amer3	A	G	1: 34,627,380 (GRCm39)	R540G	probably benign	Het
Ank	C	T	15: 27,565,063 (GRCm39)	R255W	probably damaging	Het
Ank3	A	C	10: 69,728,200 (GRCm39)	I629L	probably damaging	Het
Arhgap11a	T	A	2: 113,672,387 (GRCm39)	N194Y	probably damaging	Het
BB014433	T	C	8: 15,092,095 (GRCm39)	T253A	possibly damaging	Het
Ccdc40	C	A	11: 119,133,335 (GRCm39)	D534E	probably damaging	Het
Chrna2	C	A	14: 66,383,902 (GRCm39)	N106K	probably damaging	Het
Clec2f	C	A	6: 128,997,474 (GRCm39)		noncoding transcript	Het
Cnnm2	G	A	19: 46,865,709 (GRCm39)	D766N	probably benign	Het
Ctc1	A	G	11: 68,906,943 (GRCm39)		probably null	Het
Ddc	C	T	11: 11,769,393 (GRCm39)		probably null	Het
Doc2g	G	A	19: 4,054,036 (GRCm39)		probably benign	Het
Ep400	T	C	5: 110,851,481 (GRCm39)	T1334A	unknown	Het
Epdr1	T	C	13: 19,778,659 (GRCm39)	I44V	probably benign	Het
Fbp2	A	T	13: 62,989,679 (GRCm39)	I209N	probably damaging	Het
Get1	T	A	16: 95,946,899 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,120,807 (GRCm39)	Q375K	probably damaging	Het
Hc	A	C	2: 34,903,077 (GRCm39)	V1058G	possibly damaging	Het
Hydin	T	A	8: 111,245,886 (GRCm39)	S2200T	possibly damaging	Het
Kcnc1	C	T	7: 46,077,712 (GRCm39)	P505S	probably benign	Het
Kifc3	T	C	8: 95,834,048 (GRCm39)		probably null	Het
Klhl10	A	G	11: 100,333,002 (GRCm39)	E49G	possibly damaging	Het
Lhx5	T	C	5: 120,573,499 (GRCm39)	S161P	probably damaging	Het
Lilra6	G	T	7: 3,915,028 (GRCm39)	Y455*	probably null	Het
Lzts1	C	T	8: 69,588,270 (GRCm39)	R562H	probably benign	Het
Muc6	G	A	7: 141,226,356 (GRCm39)		probably benign	Het
Ogfod2	C	T	5: 124,251,317 (GRCm39)	Q74*	probably null	Het
Or4f56	A	C	2: 111,703,947 (GRCm39)	D84E	probably damaging	Het
Or5h17	T	A	16: 58,820,138 (GRCm39)	V30E	probably benign	Het
Polr2a	T	C	11: 69,633,385 (GRCm39)		probably null	Het
Ptpre	T	C	7: 135,270,832 (GRCm39)	L329P	probably damaging	Het
Rnh1	T	C	7: 140,744,456 (GRCm39)	Q73R	possibly damaging	Het
Scly	G	A	1: 91,236,047 (GRCm39)	V100I	possibly damaging	Het
Sos2	A	T	12: 69,682,435 (GRCm39)	L261*	probably null	Het
Sp1	A	C	15: 102,317,747 (GRCm39)	Q422P	possibly damaging	Het
Sp3	A	T	2: 72,800,741 (GRCm39)	F468Y	probably damaging	Het
Tenm2	T	C	11: 35,899,172 (GRCm39)	Y2662C	possibly damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmprss2	C	A	16: 97,371,627 (GRCm39)	G281C	probably damaging	Het
Tmprss6	A	T	15: 78,343,978 (GRCm39)	Y183N	probably damaging	Het
Ttn	A	T	2: 76,580,684 (GRCm39)	L23403Q	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r90	T	C	7: 14,296,084 (GRCm39)	N5D	probably benign	Het
Vps13b	A	G	15: 35,709,819 (GRCm39)	D1922G	possibly damaging	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
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
R9061:Garin1b	UTSW	6	29,323,902 (GRCm39)	missense	probably benign	0.27
X0065:Garin1b	UTSW	6	29,326,660 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGCTGGCCTGAAAATCATGG -3'
(R):5'- TGCAAAGGCTCTTGGGTACC -3'

Sequencing Primer
(F):5'- TGTATCTTAAGTGCCCCAAGG -3'
(R):5'- GTACCAGGCAGTGAGTGAC -3'

Posted On

2015-07-21