Mutagenetix > Incidental Mutation

Incidental Mutation 'R2272:Garin5b'

242559

Institutional Source

Beutler Lab

Gene Symbol

Garin5b

Ensembl Gene

ENSMUSG00000092518

Gene Name

golgi associated RAB2 interactor family member 5B

Synonyms

Fam71e2, 4930401F20Rik

MMRRC Submission

040272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R2272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4756225-4774301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4761186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 509 (T509S)

Ref Sequence

ENSEMBL: ENSMUSP00000133885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163574] [ENSMUST00000174409]

AlphaFold

L7N480

Predicted Effect

probably benign
Transcript: ENSMUST00000108580
AA Change: T509S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: T509S

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
Pfam:DUF3699	99	172	6.5e-23	PFAM
low complexity region	282	296	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163574

SMART Domains

Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174409
AA Change: T509S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: T509S

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
Pfam:DUF3699	93	168	5.8e-24	PFAM
low complexity region	277	291	N/A	INTRINSIC
low complexity region	679	692	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Ago1	C	A	4: 126,347,443 (GRCm39)	M435I	probably benign	Het
Apol7b	G	A	15: 77,307,910 (GRCm39)	A195V	probably damaging	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atg2b	C	T	12: 105,604,267 (GRCm39)	V1545I	probably benign	Het
Atp4a	C	A	7: 30,414,925 (GRCm39)	S238*	probably null	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Brinp3	A	G	1: 146,777,142 (GRCm39)	R530G	possibly damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnah10	A	G	5: 124,808,530 (GRCm39)	N195S	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Hydin	A	T	8: 111,035,764 (GRCm39)	I152L	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnq3	T	A	15: 65,900,529 (GRCm39)	D242V	probably damaging	Het
Klhl1	T	C	14: 96,755,344 (GRCm39)	D137G	probably benign	Het
Lama5	T	C	2: 179,820,396 (GRCm39)	D3282G	possibly damaging	Het
Lhx8	A	G	3: 154,022,399 (GRCm39)	L254S	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matn4	A	T	2: 164,239,162 (GRCm39)	C232S	possibly damaging	Het
Mios	C	T	6: 8,226,865 (GRCm39)	R614C	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Mycbp2	T	C	14: 103,381,774 (GRCm39)	H3612R	probably null	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Myo7b	C	T	18: 32,110,096 (GRCm39)	S1122N	probably benign	Het
Myo9a	T	A	9: 59,722,584 (GRCm39)	F549I	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Neil1	A	G	9: 57,054,069 (GRCm39)	S84P	probably damaging	Het
Nfix	A	G	8: 85,453,804 (GRCm39)	I256T	probably damaging	Het
Nlrp4f	A	T	13: 65,342,222 (GRCm39)	D474E	probably benign	Het
Or5ac21	T	G	16: 59,123,807 (GRCm39)	M98R	possibly damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pcnx1	T	C	12: 82,042,088 (GRCm39)	V2240A	probably benign	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Prss54	C	T	8: 96,297,735 (GRCm39)	W45*	probably null	Het
Psg29	A	T	7: 16,944,621 (GRCm39)	N377I	probably benign	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Serpinb9c	C	T	13: 33,338,524 (GRCm39)	G125E	probably damaging	Het
Skint4	A	G	4: 111,977,065 (GRCm39)	T152A	probably benign	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
Ttn	T	A	2: 76,594,864 (GRCm39)	E20394V	probably damaging	Het
Ugt2b36	A	G	5: 87,214,114 (GRCm39)	V510A	possibly damaging	Het
Usf1	T	C	1: 171,245,628 (GRCm39)	L291P	possibly damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r172	A	C	7: 23,359,616 (GRCm39)	D167A	probably damaging	Het
Wnt10b	T	A	15: 98,672,228 (GRCm39)	Q163L	probably damaging	Het

Other mutations in Garin5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Garin5b	APN	7	4,760,526 (GRCm39)	missense	probably damaging	0.99
IGL01622:Garin5b	APN	7	4,761,722 (GRCm39)	missense	probably benign	0.16
IGL01623:Garin5b	APN	7	4,761,722 (GRCm39)	missense	probably benign	0.16
IGL01944:Garin5b	APN	7	4,773,694 (GRCm39)	missense	possibly damaging	0.94
IGL03013:Garin5b	APN	7	4,761,632 (GRCm39)	missense	probably benign	0.14
IGL03029:Garin5b	APN	7	4,760,839 (GRCm39)	missense	possibly damaging	0.78
R0153:Garin5b	UTSW	7	4,773,286 (GRCm39)	missense	probably damaging	0.99
R0523:Garin5b	UTSW	7	4,762,392 (GRCm39)	missense	possibly damaging	0.74
R0981:Garin5b	UTSW	7	4,760,588 (GRCm39)	splice site	probably null
R1428:Garin5b	UTSW	7	4,760,687 (GRCm39)	missense	possibly damaging	0.68
R1736:Garin5b	UTSW	7	4,761,153 (GRCm39)	missense	probably damaging	1.00
R1929:Garin5b	UTSW	7	4,761,186 (GRCm39)	missense	probably benign	0.00
R1993:Garin5b	UTSW	7	4,761,017 (GRCm39)	missense	probably damaging	1.00
R2016:Garin5b	UTSW	7	4,762,397 (GRCm39)	missense	probably damaging	1.00
R2256:Garin5b	UTSW	7	4,774,020 (GRCm39)	missense	probably benign	0.01
R2270:Garin5b	UTSW	7	4,761,186 (GRCm39)	missense	probably benign	0.00
R2271:Garin5b	UTSW	7	4,761,186 (GRCm39)	missense	probably benign	0.00
R4288:Garin5b	UTSW	7	4,773,722 (GRCm39)	missense	possibly damaging	0.91
R4653:Garin5b	UTSW	7	4,761,054 (GRCm39)	missense	possibly damaging	0.95
R4812:Garin5b	UTSW	7	4,762,071 (GRCm39)	missense	probably damaging	1.00
R4860:Garin5b	UTSW	7	4,760,468 (GRCm39)	critical splice donor site	probably null
R4860:Garin5b	UTSW	7	4,760,468 (GRCm39)	critical splice donor site	probably null
R5037:Garin5b	UTSW	7	4,761,575 (GRCm39)	missense	possibly damaging	0.64
R5044:Garin5b	UTSW	7	4,761,660 (GRCm39)	missense	probably benign	0.00
R5491:Garin5b	UTSW	7	4,760,925 (GRCm39)	missense	probably benign	0.05
R5559:Garin5b	UTSW	7	4,761,449 (GRCm39)	missense	probably damaging	1.00
R5919:Garin5b	UTSW	7	4,773,385 (GRCm39)	missense	possibly damaging	0.92
R6025:Garin5b	UTSW	7	4,761,143 (GRCm39)	missense	probably benign	0.01
R6038:Garin5b	UTSW	7	4,756,594 (GRCm39)	splice site	probably null
R6038:Garin5b	UTSW	7	4,756,594 (GRCm39)	splice site	probably null
R6164:Garin5b	UTSW	7	4,773,677 (GRCm39)	missense	probably damaging	0.99
R6371:Garin5b	UTSW	7	4,762,358 (GRCm39)	missense	probably benign	0.06
R6470:Garin5b	UTSW	7	4,760,850 (GRCm39)	missense	probably benign	0.16
R6546:Garin5b	UTSW	7	4,761,464 (GRCm39)	missense	probably benign	0.06
R6603:Garin5b	UTSW	7	4,761,431 (GRCm39)	missense	possibly damaging	0.95
R7037:Garin5b	UTSW	7	4,761,584 (GRCm39)	utr 3 prime	probably benign
R7381:Garin5b	UTSW	7	4,760,681 (GRCm39)	missense
R8743:Garin5b	UTSW	7	4,760,814 (GRCm39)	missense
R9066:Garin5b	UTSW	7	4,773,518 (GRCm39)	intron	probably benign
R9072:Garin5b	UTSW	7	4,762,253 (GRCm39)	missense
R9138:Garin5b	UTSW	7	4,773,406 (GRCm39)	missense
R9352:Garin5b	UTSW	7	4,761,605 (GRCm39)	missense
R9373:Garin5b	UTSW	7	4,760,712 (GRCm39)	missense
R9462:Garin5b	UTSW	7	4,761,330 (GRCm39)	missense
Z1177:Garin5b	UTSW	7	4,760,727 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCTTCTTGGTAGTGGCAAAG -3'
(R):5'- CAGGTGCACTTGGCCATTTC -3'

Sequencing Primer
(F):5'- ATGGTCTGGGCCCTCACATC -3'
(R):5'- AGGTGCACTTGGCCATTTCTTTAAG -3'

Posted On

2014-10-16