Mutagenetix > Incidental Mutation

Incidental Mutation 'R0523:Garin5b'

48706

Institutional Source

Beutler Lab

Gene Symbol

Garin5b

Ensembl Gene

ENSMUSG00000092518

Gene Name

golgi associated RAB2 interactor family member 5B

Synonyms

Fam71e2, 4930401F20Rik

MMRRC Submission

038716-MU

Accession Numbers

Essential gene?

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

Stock #

R0523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4756225-4774301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4762392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 246 (S246P)

Gene Model

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

AlphaFold

L7N480

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108580
AA Change: S246P

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: S246P

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

possibly damaging
Transcript: ENSMUST00000174409
AA Change: S246P

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: S246P

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,289 (GRCm39)	D807G	possibly damaging	Het
Actl9	T	A	17: 33,652,323 (GRCm39)	W128R	probably damaging	Het
Aggf1	T	C	13: 95,492,924 (GRCm39)	I562V	probably damaging	Het
Ano3	T	A	2: 110,715,200 (GRCm39)	E79D	probably benign	Het
Apobec1	T	A	6: 122,558,504 (GRCm39)	I84F	probably damaging	Het
Atp6v1b2	T	C	8: 69,562,637 (GRCm39)	F458L	possibly damaging	Het
Bco2	A	T	9: 50,445,926 (GRCm39)	V490E	probably damaging	Het
Catsperg1	G	A	7: 28,884,615 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,054,292 (GRCm39)	K111R	probably damaging	Het
Cfap54	T	C	10: 92,744,745 (GRCm39)		probably benign	Het
Cfap91	G	A	16: 38,148,736 (GRCm39)	P231S	probably damaging	Het
Cplane1	T	A	15: 8,223,870 (GRCm39)	Y878N	probably damaging	Het
Cpox	T	A	16: 58,495,608 (GRCm39)	C308*	probably null	Het
Cracdl	A	T	1: 37,683,710 (GRCm39)	M1K	probably null	Het
Ctnna3	T	G	10: 64,511,688 (GRCm39)	M626R	probably damaging	Het
Cyp2c68	T	C	19: 39,727,873 (GRCm39)	E93G	probably benign	Het
Cyp2s1	G	A	7: 25,505,475 (GRCm39)	R330W	probably damaging	Het
Diaph1	C	T	18: 37,989,553 (GRCm39)	V860I	possibly damaging	Het
Dicer1	A	G	12: 104,668,750 (GRCm39)	S1311P	probably damaging	Het
Dpyd	G	A	3: 118,692,852 (GRCm39)	R332K	probably benign	Het
E130308A19Rik	G	A	4: 59,719,716 (GRCm39)	R416H	probably damaging	Het
Eef1d	T	C	15: 75,775,005 (GRCm39)	D218G	probably benign	Het
Eif2ak1	T	C	5: 143,818,984 (GRCm39)	V215A	probably damaging	Het
Eif2ak4	T	C	2: 118,272,577 (GRCm39)		probably null	Het
Fcrl5	T	C	3: 87,365,099 (GRCm39)	S583P	possibly damaging	Het
Grid2ip	C	A	5: 143,358,798 (GRCm39)	Q29K	possibly damaging	Het
Htr1f	A	T	16: 64,746,262 (GRCm39)	N343K	probably damaging	Het
Hvcn1	T	C	5: 122,354,428 (GRCm39)		probably null	Het
Igf2r	T	C	17: 12,910,951 (GRCm39)	I1956V	probably benign	Het
Impdh2	A	T	9: 108,439,018 (GRCm39)		probably null	Het
Impdh2	C	T	9: 108,439,019 (GRCm39)	T96I	possibly damaging	Het
Lactb	C	G	9: 66,877,974 (GRCm39)	G285A	probably benign	Het
Lrrc43	T	C	5: 123,639,305 (GRCm39)	S445P	probably damaging	Het
Mapk12	T	G	15: 89,019,848 (GRCm39)	M120L	probably benign	Het
Mroh8	C	G	2: 157,065,956 (GRCm39)	A669P	probably damaging	Het
Mrpl38	A	C	11: 116,022,844 (GRCm39)	H373Q	probably benign	Het
Myocd	A	G	11: 65,071,728 (GRCm39)	V740A	probably damaging	Het
Naprt	A	G	15: 75,764,314 (GRCm39)	F300S	probably damaging	Het
Ncam2	T	C	16: 81,258,531 (GRCm39)	I271T	probably damaging	Het
Nek4	A	G	14: 30,701,995 (GRCm39)	T582A	probably benign	Het
Notch2	C	T	3: 97,978,286 (GRCm39)	T89I	probably benign	Het
Notch2	G	A	3: 98,018,914 (GRCm39)	R692H	probably benign	Het
Nt5c3	A	T	6: 56,860,666 (GRCm39)	N296K	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Oas3	T	C	5: 120,904,209 (GRCm39)	Q555R	unknown	Het
Or2ag17	A	G	7: 106,389,533 (GRCm39)	V225A	probably damaging	Het
Or5p69	A	T	7: 107,967,438 (GRCm39)	H247L	probably damaging	Het
Or9g19	T	A	2: 85,600,273 (GRCm39)	S43T	probably benign	Het
P3h1	C	A	4: 119,098,727 (GRCm39)	Q410K	probably benign	Het
Pax3	A	G	1: 78,172,078 (GRCm39)	V44A	possibly damaging	Het
Pde1c	T	A	6: 56,151,926 (GRCm39)	L252F	probably damaging	Het
Pdzd7	T	A	19: 45,024,529 (GRCm39)	T497S	probably benign	Het
Piezo2	T	C	18: 63,155,552 (GRCm39)	T253A	probably damaging	Het
Pipox	T	C	11: 77,782,965 (GRCm39)	E79G	probably damaging	Het
Pole	G	T	5: 110,451,459 (GRCm39)	M829I	probably damaging	Het
Ppp1r12c	A	T	7: 4,492,771 (GRCm39)	L156Q	probably damaging	Het
Psme2b	T	G	11: 48,836,609 (GRCm39)	T113P	probably damaging	Het
Ptprq	A	G	10: 107,416,081 (GRCm39)	I1739T	possibly damaging	Het
Qser1	T	C	2: 104,620,021 (GRCm39)	T174A	probably damaging	Het
Rcor3	T	G	1: 191,814,736 (GRCm39)	D81A	probably damaging	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Rnf11	T	C	4: 109,314,119 (GRCm39)	D90G	probably benign	Het
Sh3tc1	GCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCC	5: 35,881,410 (GRCm39)		probably benign	Het
Smad2	T	A	18: 76,395,623 (GRCm39)	S21T	probably benign	Het
Smc4	A	G	3: 68,933,221 (GRCm39)	D639G	probably damaging	Het
Smtn	A	T	11: 3,474,664 (GRCm39)	S716T	possibly damaging	Het
Smug1	G	T	15: 103,064,136 (GRCm39)	Q262K	probably benign	Het
Sspo	G	T	6: 48,428,794 (GRCm39)	G403V	probably benign	Het
Tas2r131	A	G	6: 132,934,414 (GRCm39)	F132L	possibly damaging	Het
Tgm3	T	C	2: 129,886,582 (GRCm39)		probably null	Het
Tigd2	C	T	6: 59,187,358 (GRCm39)	T75M	probably benign	Het
Tnfrsf13b	T	C	11: 61,038,413 (GRCm39)	V232A	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim47	A	G	11: 115,998,716 (GRCm39)	L301S	probably damaging	Het
Trim75	G	A	8: 65,436,442 (GRCm39)	H3Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Tsbp1	G	T	17: 34,664,473 (GRCm39)		probably null	Het
Ttc29	G	C	8: 79,003,466 (GRCm39)	L227F	probably benign	Het
Ttc39d	G	A	17: 80,523,886 (GRCm39)	D182N	possibly damaging	Het
Ttll10	T	A	4: 156,129,818 (GRCm39)	R164*	probably null	Het
Ufsp2	T	A	8: 46,449,780 (GRCm39)	D447E	probably benign	Het
Ugt2b37	T	A	5: 87,399,691 (GRCm39)	L272F	possibly damaging	Het
Vps13b	T	C	15: 35,472,196 (GRCm39)	V833A	probably benign	Het
Zbbx	T	C	3: 74,989,165 (GRCm39)	T308A	probably benign	Het
Zfp933	G	A	4: 147,910,919 (GRCm39)	Q226*	probably null	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
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
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'- AGAAGTCTGAGCCCTCTGGAAAAGG -3'
(R):5'- CCAGTTGAAGTTGCTGATCCCACC -3'

Sequencing Primer
(F):5'- GTGGGTATTGCTCATACCAGAAAC -3'
(R):5'- tatggggggcagggagg -3'

Posted On

2013-06-12