Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Togaram2'

541481

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: 0.067) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71673261-71729669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71729188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 891 (V891A)

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: V891A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: V891A

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: V911A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: V911A

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: V891A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: V891A

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

Meta Mutation Damage Score

0.1187

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably 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
R6682:Togaram2	UTSW	17	71704754	missense	probably benign	0.04
R6922:Togaram2	UTSW	17	71707134	missense	probably damaging	1.00
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
R9660:Togaram2	UTSW	17	71717370	missense	probably damaging	0.98
R9776:Togaram2	UTSW	17	71716513	missense	possibly damaging	0.94
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'- ATGGACCTACCTCATTTGCATTG -3'
(R):5'- AGGCTAAAAGTCCCTGCAGC -3'

Sequencing Primer
(F):5'- GCAGACCAATATTTCTCTTCAGATG -3'
(R):5'- TGACTGGCAGCGAAGTCCTG -3'

Posted On

2018-11-28