Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01691:Togaram2'

104123

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Togaram2

Ensembl Gene

ENSMUSG00000045761

Gene Name

TOG array regulator of axonemal microtubules 2

Synonyms

Fam179a, 4632412N22Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01691

Quality Score

Status

Chromosome

Chromosomal Location

71980256-72036664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72036485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1012 (M1012V)

Ref Sequence

ENSEMBL: ENSMUSP00000114359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097284] [ENSMUST00000144479] [ENSMUST00000153445]

AlphaFold

Q3TYG6

Predicted Effect

probably benign
Transcript: ENSMUST00000097284
AA Change: M992V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: M992V

Domain	Start	End	E-Value	Type
low complexity region	49	60	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
low complexity region	467	474	N/A	INTRINSIC
Pfam:CLASP_N	492	705	2.3e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129072

Predicted Effect

probably null
Transcript: ENSMUST00000144479
AA Change: M1012V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: M1012V

Domain	Start	End	E-Value	Type
low complexity region	50	61	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC
low complexity region	468	475	N/A	INTRINSIC
Pfam:CLASP_N	493	706	2.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153445
AA Change: M992V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: M992V

Domain	Start	End	E-Value	Type
low complexity region	49	60	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
low complexity region	467	474	N/A	INTRINSIC
Pfam:CLASP_N	492	705	2.3e-21	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	T	A	3: 32,774,349 (GRCm39)	M282K	possibly damaging	Het
Adam22	T	C	5: 8,142,742 (GRCm39)	N831S	probably damaging	Het
Adamdec1	C	T	14: 68,810,556 (GRCm39)	R200Q	probably damaging	Het
Asb15	A	G	6: 24,567,271 (GRCm39)	I531V	probably benign	Het
Btrc	T	A	19: 45,501,117 (GRCm39)	D223E	probably benign	Het
Ccdc30	T	A	4: 119,250,761 (GRCm39)	E161V	probably damaging	Het
Cd38	G	A	5: 44,060,928 (GRCm39)		probably benign	Het
Clec2d	T	C	6: 129,161,185 (GRCm39)	F94S	probably damaging	Het
Cwf19l1	C	T	19: 44,109,311 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,430,269 (GRCm39)	N96K	probably benign	Het
Ephb6	G	A	6: 41,591,449 (GRCm39)	R202H	probably benign	Het
Gm43191	T	A	3: 116,471,616 (GRCm39)	I218L	probably benign	Het
Gm7168	G	A	17: 14,169,140 (GRCm39)	S169N	probably damaging	Het
Gm7964	T	C	7: 83,405,344 (GRCm39)		noncoding transcript	Het
Kif20b	T	C	19: 34,913,143 (GRCm39)		probably benign	Het
Kmt2e	A	G	5: 23,702,089 (GRCm39)	T906A	probably benign	Het
Mboat2	A	G	12: 25,004,221 (GRCm39)	N341D	probably damaging	Het
Msh6	T	C	17: 88,292,907 (GRCm39)	V554A	probably benign	Het
Ndc80	T	C	17: 71,815,634 (GRCm39)	T384A	possibly damaging	Het
Or1af1	G	T	2: 37,110,038 (GRCm39)	C179F	probably damaging	Het
Or8g18	G	A	9: 39,149,315 (GRCm39)	T135I	probably benign	Het
Ptpn5	G	T	7: 46,732,906 (GRCm39)	H312Q	probably benign	Het
Rftn2	C	T	1: 55,253,445 (GRCm39)	V53I	probably damaging	Het
Rgs20	T	C	1: 4,987,145 (GRCm39)	T124A	probably benign	Het
Sox18	T	C	2: 181,313,143 (GRCm39)	S58G	possibly damaging	Het
Usp48	A	T	4: 137,350,583 (GRCm39)		probably null	Het

Other mutations in Togaram2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Togaram2	APN	17	72,031,999 (GRCm39)	missense	probably damaging	1.00
IGL01298:Togaram2	APN	17	72,023,508 (GRCm39)	missense	possibly damaging	0.71
IGL01625:Togaram2	APN	17	72,021,693 (GRCm39)	missense	probably benign	0.06
IGL02165:Togaram2	APN	17	72,004,861 (GRCm39)	missense	probably benign	0.00
IGL02186:Togaram2	APN	17	71,992,166 (GRCm39)	missense	possibly damaging	0.64
IGL02664:Togaram2	APN	17	72,036,234 (GRCm39)	missense	probably damaging	0.97
IGL02712:Togaram2	APN	17	72,011,749 (GRCm39)	missense	probably benign	0.04
IGL03000:Togaram2	APN	17	72,024,365 (GRCm39)	missense	probably benign	0.08
IGL03209:Togaram2	APN	17	72,002,740 (GRCm39)	critical splice donor site	probably null
R0211:Togaram2	UTSW	17	72,036,243 (GRCm39)	missense	probably damaging	1.00
R0212:Togaram2	UTSW	17	72,031,978 (GRCm39)	missense	probably damaging	1.00
R0219:Togaram2	UTSW	17	72,021,225 (GRCm39)	splice site	probably benign
R0268:Togaram2	UTSW	17	72,004,993 (GRCm39)	critical splice donor site	probably null
R0617:Togaram2	UTSW	17	72,007,504 (GRCm39)	missense	possibly damaging	0.87
R0831:Togaram2	UTSW	17	72,023,439 (GRCm39)	missense	probably damaging	1.00
R0972:Togaram2	UTSW	17	72,014,309 (GRCm39)	missense	probably damaging	1.00
R1635:Togaram2	UTSW	17	72,004,846 (GRCm39)	missense	probably benign	0.05
R1799:Togaram2	UTSW	17	71,998,450 (GRCm39)	missense	probably damaging	1.00
R2062:Togaram2	UTSW	17	72,023,360 (GRCm39)	missense	probably benign	0.26
R2414:Togaram2	UTSW	17	72,023,304 (GRCm39)	intron	probably benign
R2866:Togaram2	UTSW	17	72,016,592 (GRCm39)	missense	probably benign	0.00
R2867:Togaram2	UTSW	17	72,016,592 (GRCm39)	missense	probably benign	0.00
R2867:Togaram2	UTSW	17	72,016,592 (GRCm39)	missense	probably benign	0.00
R4066:Togaram2	UTSW	17	72,023,233 (GRCm39)	intron	probably benign
R4807:Togaram2	UTSW	17	72,004,918 (GRCm39)	missense	probably damaging	1.00
R5659:Togaram2	UTSW	17	71,994,667 (GRCm39)	missense	probably damaging	0.96
R5680:Togaram2	UTSW	17	71,996,204 (GRCm39)	missense	probably benign	0.00
R5975:Togaram2	UTSW	17	72,036,200 (GRCm39)	missense	probably damaging	1.00
R5996:Togaram2	UTSW	17	72,011,778 (GRCm39)	missense	probably damaging	0.99
R6619:Togaram2	UTSW	17	71,996,266 (GRCm39)	missense	probably damaging	0.99
R6682:Togaram2	UTSW	17	72,011,749 (GRCm39)	missense	probably benign	0.04
R6922:Togaram2	UTSW	17	72,014,129 (GRCm39)	missense	probably damaging	1.00
R6956:Togaram2	UTSW	17	72,036,183 (GRCm39)	missense	probably benign	0.00
R6968:Togaram2	UTSW	17	72,016,608 (GRCm39)	missense	probably damaging	1.00
R7007:Togaram2	UTSW	17	72,016,638 (GRCm39)	missense	probably damaging	0.99
R7015:Togaram2	UTSW	17	72,016,563 (GRCm39)	missense	possibly damaging	0.62
R7140:Togaram2	UTSW	17	72,021,761 (GRCm39)	missense	probably benign	0.00
R7383:Togaram2	UTSW	17	72,007,512 (GRCm39)	missense	probably damaging	1.00
R7691:Togaram2	UTSW	17	72,023,405 (GRCm39)	missense	probably benign	0.16
R7778:Togaram2	UTSW	17	72,011,746 (GRCm39)	missense	probably benign	0.00
R7824:Togaram2	UTSW	17	72,011,746 (GRCm39)	missense	probably benign	0.00
R7862:Togaram2	UTSW	17	71,996,168 (GRCm39)	missense	probably benign	0.00
R7864:Togaram2	UTSW	17	72,007,935 (GRCm39)	missense	probably damaging	0.96
R7968:Togaram2	UTSW	17	72,024,428 (GRCm39)	missense	probably benign	0.18
R8125:Togaram2	UTSW	17	72,023,489 (GRCm39)	missense	probably benign	0.16
R8227:Togaram2	UTSW	17	72,021,237 (GRCm39)	nonsense	probably null
R8331:Togaram2	UTSW	17	72,036,221 (GRCm39)	missense	probably damaging	1.00
R8354:Togaram2	UTSW	17	72,004,873 (GRCm39)	missense	probably benign	0.00
R8454:Togaram2	UTSW	17	72,004,873 (GRCm39)	missense	probably benign	0.00
R9043:Togaram2	UTSW	17	71,993,699 (GRCm39)	missense	probably benign	0.00
R9050:Togaram2	UTSW	17	72,007,878 (GRCm39)	missense	probably damaging	1.00
R9303:Togaram2	UTSW	17	71,996,408 (GRCm39)	missense	probably damaging	0.97
R9305:Togaram2	UTSW	17	71,996,408 (GRCm39)	missense	probably damaging	0.97
R9458:Togaram2	UTSW	17	72,024,246 (GRCm39)	missense	possibly damaging	0.93
R9660:Togaram2	UTSW	17	72,024,365 (GRCm39)	missense	probably damaging	0.98
R9776:Togaram2	UTSW	17	72,023,508 (GRCm39)	missense	possibly damaging	0.94
X0063:Togaram2	UTSW	17	72,014,192 (GRCm39)	missense	possibly damaging	0.91
Z1088:Togaram2	UTSW	17	72,021,275 (GRCm39)	missense	possibly damaging	0.87
Z1177:Togaram2	UTSW	17	72,007,997 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-01-21