Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Togaram2'

654963

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: 0.069) question?

Stock #

R8454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71673261-71729669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 71697878 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 310 (A310G)

Ref Sequence

ENSEMBL: ENSMUSP00000114359 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097284
AA Change: A309G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: A309G

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: A310G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: A310G

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: A309G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: A309G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Abcc10	C	A	17: 46,324,177	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cideb	T	A	14: 55,755,141	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Eml3	A	G	19: 8,934,994	H386R	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Fzd1	T	C	5: 4,757,336	Q82R	probably benign	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Glb1l2	C	A	9: 26,806,417		probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,724	A478T	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,887,486	H260R	probably benign	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	probably benign	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
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
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'- TGGCAATGCTAACTTCCCC -3'
(R):5'- TGCCGCACAGCAGATTTTAG -3'

Sequencing Primer
(F):5'- AACTTCCCCCTTAGGAAAGTGTGG -3'
(R):5'- TAGAAGCGTGCTTGTATCCAGCC -3'

Posted On

2020-10-20