Mutagenetix > Incidental Mutation

Incidental Mutation 'R8743:Garin5b'

663343

Institutional Source

Beutler Lab

Gene Symbol

Garin5b

Ensembl Gene

ENSMUSG00000092518

Gene Name

golgi associated RAB2 interactor family member 5B

Synonyms

Fam71e2, 4930401F20Rik

MMRRC Submission

068588-MU

Accession Numbers

Essential gene?

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

Stock #

R8743 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4756225-4774301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4760814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 633 (T633S)

Ref Sequence

ENSEMBL: ENSMUSP00000133885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063324] [ENSMUST00000163574] [ENSMUST00000174409] [ENSMUST00000182048] [ENSMUST00000182111] [ENSMUST00000182173] [ENSMUST00000182738] [ENSMUST00000183334] [ENSMUST00000183971] [ENSMUST00000184143]

AlphaFold

L7N480

Predicted Effect

probably benign
Transcript: ENSMUST00000063324

SMART Domains

Protein: ENSMUSP00000064988
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

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

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: T633S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182048

SMART Domains

Protein: ENSMUSP00000138765
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182111

SMART Domains

Protein: ENSMUSP00000138709
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182173

SMART Domains

Protein: ENSMUSP00000138288
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	74	5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182738

SMART Domains

Protein: ENSMUSP00000138744
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	74	5.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183334

Predicted Effect

probably benign
Transcript: ENSMUST00000183971

SMART Domains

Protein: ENSMUSP00000138911
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	75	1.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184143

SMART Domains

Protein: ENSMUSP00000139239
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	60	2.1e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,264 (GRCm39)	C468S	probably damaging	Het
Adamts7	G	A	9: 90,077,296 (GRCm39)	R1321H	probably damaging	Het
Adra2c	T	C	5: 35,437,792 (GRCm39)	V188A	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ap1g1	A	G	8: 110,564,423 (GRCm39)	N323D	probably damaging	Het
Arhgap15	A	T	2: 43,638,876 (GRCm39)		probably benign	Het
Arhgef33	T	C	17: 80,667,882 (GRCm39)		probably null	Het
Armc1	C	T	3: 19,211,700 (GRCm39)	C40Y	probably benign	Het
Arsk	C	A	13: 76,214,928 (GRCm39)	V309F	probably damaging	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Cacna1s	T	C	1: 136,033,286 (GRCm39)	L1237P	probably damaging	Het
Ccnt2	A	G	1: 127,702,020 (GRCm39)	E19G	probably damaging	Het
Ccr2	A	C	9: 123,906,131 (GRCm39)	Y137S	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cfh	A	T	1: 140,046,323 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,450,862 (GRCm39)	V662E	probably benign	Het
Cnga4	A	G	7: 105,057,220 (GRCm39)	D544G	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Coro6	T	A	11: 77,357,265 (GRCm39)	I158N	probably damaging	Het
Cpa1	A	G	6: 30,642,992 (GRCm39)	S307G	probably damaging	Het
Depdc5	T	A	5: 33,081,587 (GRCm39)	M583K	probably benign	Het
Dock2	G	T	11: 34,223,252 (GRCm39)	S1170*	probably null	Het
Dusp16	A	T	6: 134,694,933 (GRCm39)	S633T	probably benign	Het
Esco1	T	C	18: 10,572,123 (GRCm39)	E739G	probably damaging	Het
Fam193a	T	A	5: 34,577,501 (GRCm39)		probably null	Het
Fat4	G	A	3: 38,942,592 (GRCm39)	S495N	probably benign	Het
Galnt10	A	G	11: 57,675,409 (GRCm39)	Y556C	probably damaging	Het
Gc	A	T	5: 89,591,311 (GRCm39)	D142E	probably benign	Het
Gda	A	T	19: 21,377,952 (GRCm39)	F369Y	probably damaging	Het
Glce	A	T	9: 61,968,103 (GRCm39)	S349R	probably benign	Het
Glp2r	A	G	11: 67,612,901 (GRCm39)	L351P	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Gxylt2	A	T	6: 100,764,284 (GRCm39)	Y323F	probably benign	Het
Hmmr	T	C	11: 40,598,858 (GRCm39)	N589D	probably damaging	Het
Hsd17b3	A	C	13: 64,210,712 (GRCm39)	D214E	probably benign	Het
Kat6a	A	G	8: 23,429,022 (GRCm39)	D1459G	possibly damaging	Het
Lad1	G	A	1: 135,758,933 (GRCm39)	R465H	probably benign	Het
Lcmt1	T	A	7: 122,999,691 (GRCm39)	D46E	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Mylk	G	T	16: 34,741,427 (GRCm39)	R796L	probably benign	Het
Nat8l	T	A	5: 34,154,510 (GRCm39)	L108Q	probably damaging	Het
Nlrp5	T	C	7: 23,118,172 (GRCm39)	V632A	probably benign	Het
Nr3c2	A	G	8: 77,636,387 (GRCm39)	E496G	probably damaging	Het
Nucb2	A	G	7: 116,128,065 (GRCm39)	D258G	probably damaging	Het
Or8b12	G	T	9: 37,658,174 (GRCm39)	C248F	probably benign	Het
Or8b56	A	T	9: 38,738,995 (GRCm39)	I3F	probably benign	Het
Papln	A	G	12: 83,829,764 (GRCm39)	K962E	probably damaging	Het
Pcdha8	T	A	18: 37,127,372 (GRCm39)	M618K	probably benign	Het
Pclo	A	G	5: 14,764,580 (GRCm39)	D1066G		Het
Phip	A	T	9: 82,809,140 (GRCm39)	M446K	probably benign	Het
Pkn3	A	G	2: 29,973,318 (GRCm39)	K380R	probably benign	Het
Potefam1	T	C	2: 111,000,017 (GRCm39)	T198A	unknown	Het
Ppa1	C	A	10: 61,496,758 (GRCm39)	A82E	possibly damaging	Het
Prune2	A	C	19: 17,096,920 (GRCm39)	D808A	probably benign	Het
Psme4	T	G	11: 30,828,467 (GRCm39)	L1829R	probably damaging	Het
Rtp4	A	C	16: 23,431,866 (GRCm39)	K133Q	possibly damaging	Het
Scaf11	C	T	15: 96,313,669 (GRCm39)	A1371T	probably benign	Het
Serpinb9g	A	T	13: 33,678,931 (GRCm39)	H267L	probably benign	Het
Slc47a2	T	G	11: 61,233,588 (GRCm39)	D6A	probably benign	Het
Slco1a4	A	T	6: 141,765,255 (GRCm39)	V329D	possibly damaging	Het
Smg6	T	C	11: 74,820,859 (GRCm39)	S377P	probably benign	Het
Spata31g1	A	G	4: 42,971,030 (GRCm39)	H121R	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Taar2	A	T	10: 23,817,369 (GRCm39)	Y303F	probably damaging	Het
Tgm6	A	G	2: 129,985,418 (GRCm39)	D407G	probably damaging	Het
Twf2	A	G	9: 106,090,010 (GRCm39)	E153G	possibly damaging	Het
Upb1	A	G	10: 75,275,710 (GRCm39)	Y365C	probably damaging	Het
Vmn2r4	A	T	3: 64,317,247 (GRCm39)	S164T	possibly damaging	Het
Wtip	C	T	7: 33,824,979 (GRCm39)	G202R	possibly damaging	Het
Zfhx4	G	A	3: 5,309,084 (GRCm39)	C770Y	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
R2272: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
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'- AGACACATTGGAAGCCACAG -3'
(R):5'- CAGGAACCTGTGCTGTTAGTG -3'

Sequencing Primer
(F):5'- CACATTGGAAGCCACAGAGAATG -3'
(R):5'- CAGTGGTAGATGTGAGGGCCC -3'

Posted On

2021-03-08