Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01298:Togaram2'

73202

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 #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

71980256-72036664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72023508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 788 (V788A)

Ref Sequence

ENSEMBL: ENSMUSP00000122691 (fasta)

Gene Model

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

AlphaFold

Q3TYG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097284
AA Change: V788A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: V788A

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

possibly damaging
Transcript: ENSMUST00000144479
AA Change: V808A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: V808A

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

possibly damaging
Transcript: ENSMUST00000153445
AA Change: V788A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: V788A

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: ENSMUST00000161407

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,169,326 (GRCm39)	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,652,040 (GRCm39)	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,760,544 (GRCm39)	N186T	probably benign	Het
Ank2	A	G	3: 126,753,369 (GRCm39)	V304A	possibly damaging	Het
Atg3	T	C	16: 44,992,036 (GRCm39)	M88T	possibly damaging	Het
Baz1a	G	T	12: 55,001,594 (GRCm39)	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,444,055 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,537,734 (GRCm39)	Y70H	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517 (GRCm39)	W19R	probably damaging	Het
Dock10	T	A	1: 80,508,962 (GRCm39)	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,738,920 (GRCm39)	D58Y	unknown	Het
Gm7168	A	T	17: 14,170,120 (GRCm39)	T496S	probably benign	Het
Gpc5	A	G	14: 115,636,600 (GRCm39)	S428G	probably benign	Het
Haus8	T	C	8: 71,705,757 (GRCm39)	E309G	probably damaging	Het
Ice1	A	G	13: 70,753,023 (GRCm39)	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,622,615 (GRCm39)	H121Q	probably benign	Het
Nwd1	T	C	8: 73,388,959 (GRCm39)	V170A	probably benign	Het
Or1j10	T	A	2: 36,267,460 (GRCm39)	M224K	probably benign	Het
Or6c3b	T	C	10: 129,527,898 (GRCm39)	Y4C	probably damaging	Het
Or8g24	G	A	9: 38,990,020 (GRCm39)	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,406,037 (GRCm39)	M96T	possibly damaging	Het
Pramel5	A	G	4: 143,997,732 (GRCm39)		probably benign	Het
Proc	T	C	18: 32,256,605 (GRCm39)	N354S	probably benign	Het
Prss40	T	G	1: 34,599,847 (GRCm39)	I47L	probably benign	Het
Tmprss7	T	C	16: 45,484,538 (GRCm39)	R541G	probably benign	Het
Trbv19	T	C	6: 41,155,838 (GRCm39)	Y70H	probably damaging	Het
Ttk	C	T	9: 83,747,195 (GRCm39)	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,254,690 (GRCm39)	T665A	probably benign	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
IGL01625:Togaram2	APN	17	72,021,693 (GRCm39)	missense	probably benign	0.06
IGL01691:Togaram2	APN	17	72,036,485 (GRCm39)	missense	probably null	0.02
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

2013-10-07