Mutagenetix > Incidental Mutations

Incidental Mutation 'R6682:Togaram2'

527559

Institutional Source

Beutler Lab

Gene Symbol

Togaram2

Ensembl Gene

ENSMUSG00000045761

Gene Name

TOG array regulator of axonemal microtubules 2

Synonyms

Fam179a, 4632412N22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6682 (G1)

Quality Score

214.009

Status

Not validated

Chromosome

Chromosomal Location

71673261-71729669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71704754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 476 (D476V)

Ref Sequence

ENSEMBL: ENSMUSP00000122691 (fasta)

Gene Model

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

AlphaFold

Q3TYG6

Predicted Effect

probably benign
Transcript: ENSMUST00000097284
AA Change: D476V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: D476V

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

probably benign
Transcript: ENSMUST00000144479
AA Change: D477V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: D477V

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: D476V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: D476V

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	C	1: 139,457,722	V368A	possibly damaging	Het
Bcl9l	A	G	9: 44,501,103	T92A	possibly damaging	Het
Celsr2	A	T	3: 108,400,501		probably null	Het
Cndp2	T	C	18: 84,677,330	K149E	probably benign	Het
Cnpy4	T	C	5: 138,187,722		probably null	Het
Cox6c	A	T	15: 35,938,173		probably null	Het
Cpt2	G	T	4: 107,904,430	S158R	probably damaging	Het
Dlgap1	A	G	17: 70,787,123	K813R	probably damaging	Het
Dock10	A	C	1: 80,512,621	L1927R	probably damaging	Het
Gak	T	A	5: 108,598,876	K430I	probably damaging	Het
Grik3	T	A	4: 125,650,466	Y327N	probably damaging	Het
Ldb3	T	A	14: 34,552,264	T334S	possibly damaging	Het
Ldlr	A	G	9: 21,732,375	D85G	probably benign	Het
Med26	T	A	8: 72,496,083	T391S	probably benign	Het
Mmp27	A	G	9: 7,573,605	T233A	probably benign	Het
Mob1a	A	G	6: 83,334,150	Y117C	possibly damaging	Het
Mrps35	A	T	6: 147,048,279	E97V	possibly damaging	Het
Msln	A	T	17: 25,753,019	S75T	probably damaging	Het
Myoz1	C	T	14: 20,653,619		probably null	Het
Nim1k	A	G	13: 119,712,188	I390T	probably benign	Het
Olfr1301	C	T	2: 111,754,635	P129S	probably damaging	Het
Olfr370	A	G	8: 83,541,558	H138R	probably benign	Het
Pclo	A	C	5: 14,539,879	Q731P	unknown	Het
Prl3d3	G	A	13: 27,161,040	E132K	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Ptpru	T	C	4: 131,820,782	M135V	probably benign	Het
Slc12a9	A	T	5: 137,327,401	L316Q	probably damaging	Het
Slc35f6	G	A	5: 30,657,420	M177I	possibly damaging	Het
Smc4	T	A	3: 69,007,241	S62R	probably damaging	Het
Tmem179	C	T	12: 112,503,280	D29N	probably benign	Het
Trpc4ap	C	T	2: 155,637,767		probably null	Het
Trpm8	C	A	1: 88,326,502	T149K	probably damaging	Het
Uhmk1	C	T	1: 170,212,235		probably null	Het
Vmn2r79	C	A	7: 87,004,162	T545K	possibly damaging	Het
Vmn2r95	C	A	17: 18,440,227	N300K	probably damaging	Het
Wdr41	G	A	13: 95,013,131	G419D	probably damaging	Het
Zc3hav1	A	T	6: 38,325,195	H597Q	probably benign	Het
Zfp704	T	C	3: 9,565,193	E36G	probably benign	Het
Zfp9	A	G	6: 118,467,241	V47A	possibly damaging	Het

Other mutations in Togaram2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Togaram2	APN	17	71725004	missense	probably damaging	1.00
IGL01298:Togaram2	APN	17	71716513	missense	possibly damaging	0.71
IGL01625:Togaram2	APN	17	71714698	missense	probably benign	0.06
IGL01691:Togaram2	APN	17	71729490	missense	probably null	0.02
IGL02165:Togaram2	APN	17	71697866	missense	probably benign	0.00
IGL02186:Togaram2	APN	17	71685171	missense	possibly damaging	0.64
IGL02664:Togaram2	APN	17	71729239	missense	probably damaging	0.97
IGL02712:Togaram2	APN	17	71704754	missense	probably benign	0.04
IGL03000:Togaram2	APN	17	71717370	missense	probably benign	0.08
IGL03209:Togaram2	APN	17	71695745	critical splice donor site	probably null
R0211:Togaram2	UTSW	17	71729248	missense	probably damaging	1.00
R0212:Togaram2	UTSW	17	71724983	missense	probably damaging	1.00
R0219:Togaram2	UTSW	17	71714230	splice site	probably benign
R0268:Togaram2	UTSW	17	71697998	critical splice donor site	probably null
R0617:Togaram2	UTSW	17	71700509	missense	possibly damaging	0.87
R0831:Togaram2	UTSW	17	71716444	missense	probably damaging	1.00
R0972:Togaram2	UTSW	17	71707314	missense	probably damaging	1.00
R1635:Togaram2	UTSW	17	71697851	missense	probably benign	0.05
R1799:Togaram2	UTSW	17	71691455	missense	probably damaging	1.00
R2062:Togaram2	UTSW	17	71716365	missense	probably benign	0.26
R2414:Togaram2	UTSW	17	71716309	intron	probably benign
R2866:Togaram2	UTSW	17	71709597	missense	probably benign	0.00
R2867:Togaram2	UTSW	17	71709597	missense	probably benign	0.00
R2867:Togaram2	UTSW	17	71709597	missense	probably benign	0.00
R4066:Togaram2	UTSW	17	71716238	intron	probably benign
R4807:Togaram2	UTSW	17	71697923	missense	probably damaging	1.00
R5659:Togaram2	UTSW	17	71687672	missense	probably damaging	0.96
R5680:Togaram2	UTSW	17	71689209	missense	probably benign	0.00
R5975:Togaram2	UTSW	17	71729205	missense	probably damaging	1.00
R5996:Togaram2	UTSW	17	71704783	missense	probably damaging	0.99
R6619:Togaram2	UTSW	17	71689271	missense	probably damaging	0.99
R6922:Togaram2	UTSW	17	71707134	missense	probably damaging	1.00
R6956:Togaram2	UTSW	17	71729188	missense	probably benign	0.00
R6968:Togaram2	UTSW	17	71709613	missense	probably damaging	1.00
R7007:Togaram2	UTSW	17	71709643	missense	probably damaging	0.99
R7015:Togaram2	UTSW	17	71709568	missense	possibly damaging	0.62
R7140:Togaram2	UTSW	17	71714766	missense	probably benign	0.00
R7383:Togaram2	UTSW	17	71700517	missense	probably damaging	1.00
R7691:Togaram2	UTSW	17	71716410	missense	probably benign	0.16
R7778:Togaram2	UTSW	17	71704751	missense	probably benign	0.00
R7824:Togaram2	UTSW	17	71704751	missense	probably benign	0.00
R7862:Togaram2	UTSW	17	71689173	missense	probably benign	0.00
R7864:Togaram2	UTSW	17	71700940	missense	probably damaging	0.96
R7968:Togaram2	UTSW	17	71717433	missense	probably benign	0.18
R8125:Togaram2	UTSW	17	71716494	missense	probably benign	0.16
R8331:Togaram2	UTSW	17	71729226	missense	probably damaging	1.00
R8354:Togaram2	UTSW	17	71697878	missense	probably benign	0.00
R8454:Togaram2	UTSW	17	71697878	missense	probably benign	0.00
R9043:Togaram2	UTSW	17	71686704	missense	probably benign	0.00
R9050:Togaram2	UTSW	17	71700883	missense	probably damaging	1.00
R9303:Togaram2	UTSW	17	71689413	missense	probably damaging	0.97
R9305:Togaram2	UTSW	17	71689413	missense	probably damaging	0.97
R9458:Togaram2	UTSW	17	71717251	missense	possibly damaging	0.93
X0063:Togaram2	UTSW	17	71707197	missense	possibly damaging	0.91
Z1088:Togaram2	UTSW	17	71714280	missense	possibly damaging	0.87
Z1177:Togaram2	UTSW	17	71701002	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTTGGCACCGGAATGAATAG -3'
(R):5'- GGACATCTTCTGTAGCCCTC -3'

Sequencing Primer
(F):5'- GCCAGGCTCTTCAGTGTCTG -3'
(R):5'- TGTAGCCCTCCTAAATATCACCC -3'

Posted On

2018-07-23