Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00943:Togaram2'

29294

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 #

IGL00943

Quality Score

Status

Chromosome

Chromosomal Location

71980256-72036664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72031999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 873 (R873C)

Ref Sequence

ENSEMBL: ENSMUSP00000122691 (fasta)

Gene Model

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

AlphaFold

Q3TYG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000097284
AA Change: R873C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: R873C

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 damaging
Transcript: ENSMUST00000144479
AA Change: R893C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: R893C

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 damaging
Transcript: ENSMUST00000153445
AA Change: R873C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: R873C

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	A	G	2: 31,680,824 (GRCm39)	Y372C	probably damaging	Het
Carmil1	C	T	13: 24,295,869 (GRCm39)	V382M	possibly damaging	Het
Chkb	A	T	15: 89,312,951 (GRCm39)	V138E	probably damaging	Het
Col7a1	G	T	9: 108,806,765 (GRCm39)	G2434*	probably null	Het
Cpa3	A	G	3: 20,282,979 (GRCm39)	V156A	possibly damaging	Het
Dicer1	A	C	12: 104,663,031 (GRCm39)	S1517A	possibly damaging	Het
Dnajc14	T	G	10: 128,652,675 (GRCm39)	S578A	possibly damaging	Het
Dse	A	G	10: 34,038,801 (GRCm39)	Y201H	probably damaging	Het
Fam114a2	A	T	11: 57,405,099 (GRCm39)	M1K	probably null	Het
Gm4847	A	T	1: 166,469,922 (GRCm39)	S50R	probably benign	Het
Gpr156	A	G	16: 37,808,938 (GRCm39)	Y220C	probably damaging	Het
Grxcr1	T	C	5: 68,189,638 (GRCm39)		probably benign	Het
Hspg2	T	C	4: 137,289,512 (GRCm39)	V3824A	probably benign	Het
Ino80b	A	T	6: 83,101,129 (GRCm39)	L116Q	probably damaging	Het
Inpp5e	A	G	2: 26,290,163 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,658 (GRCm39)	C628R	probably damaging	Het
Maml1	A	G	11: 50,149,541 (GRCm39)	V733A	probably damaging	Het
Mcm9	A	G	10: 53,424,685 (GRCm39)	L635P	probably damaging	Het
Myh15	A	T	16: 48,986,176 (GRCm39)	I1549F	probably damaging	Het
Myo1b	T	A	1: 51,823,646 (GRCm39)	I414F	probably damaging	Het
Nlrc3	T	A	16: 3,782,981 (GRCm39)	I159F	possibly damaging	Het
Nvl	A	T	1: 180,929,199 (GRCm39)	D727E	possibly damaging	Het
Or1l4	T	C	2: 37,092,183 (GRCm39)	V310A	probably benign	Het
Pgs1	A	G	11: 117,896,366 (GRCm39)	I348V	probably benign	Het
Pkp1	A	T	1: 135,805,922 (GRCm39)	V592E	probably damaging	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Slc26a7	T	C	4: 14,506,477 (GRCm39)	D624G	probably benign	Het
Slc39a6	A	G	18: 24,722,802 (GRCm39)		probably null	Het
Sorbs1	T	C	19: 40,283,484 (GRCm39)		probably benign	Het
Tnfrsf19	A	T	14: 61,261,631 (GRCm39)	M56K	possibly damaging	Het
Tubgcp6	G	A	15: 89,006,600 (GRCm39)	R141*	probably null	Het
Vill	A	G	9: 118,892,380 (GRCm39)	E337G	probably damaging	Het
Vmn1r17	A	G	6: 57,338,185 (GRCm39)	L11S	possibly damaging	Het

Other mutations in Togaram2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-04-17