Mutagenetix > Incidental Mutation

Incidental Mutation 'R2414:Togaram2'

250122

Institutional Source

Beutler Lab

Gene Symbol

Togaram2

Ensembl Gene

ENSMUSG00000045761

Gene Name

TOG array regulator of axonemal microtubules 2

Synonyms

Fam179a, 4632412N22Rik

MMRRC Submission

040378-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71980256-72036664 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 72023304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122691 (fasta)

Gene Model

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

AlphaFold

Q3TYG6

Predicted Effect

probably benign
Transcript: ENSMUST00000097284

SMART Domains

Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761

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 benign
Transcript: ENSMUST00000144479

SMART Domains

Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761

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

SMART Domains

Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	C	A	9: 121,738,040 (GRCm39)	S138R	probably damaging	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
Arfgef2	A	G	2: 166,687,424 (GRCm39)	E216G	probably benign	Het
Aspscr1	T	C	11: 120,580,048 (GRCm39)	S196P	probably benign	Het
AU040320	A	T	4: 126,762,484 (GRCm39)		probably null	Het
BC002059	T	C	17: 17,193,932 (GRCm39)		noncoding transcript	Het
Cep112	A	G	11: 108,643,408 (GRCm39)	N799S	possibly damaging	Het
Cilp	A	G	9: 65,181,927 (GRCm39)		probably benign	Het
Cpn2	T	C	16: 30,079,392 (GRCm39)	E103G	probably benign	Het
Cpt1b	G	A	15: 89,304,283 (GRCm39)		probably benign	Het
Epor	T	A	9: 21,870,785 (GRCm39)	D365V	probably damaging	Het
H2bc21	T	A	3: 96,128,750 (GRCm39)	I90N	possibly damaging	Het
Hip1r	T	C	5: 124,139,306 (GRCm39)	Y900H	probably damaging	Het
Hoxc9	A	T	15: 102,892,540 (GRCm39)	N251I	probably damaging	Het
Hpd	C	T	5: 123,315,587 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,688,711 (GRCm39)	I197L	probably benign	Het
Msi2	A	G	11: 88,607,373 (GRCm39)	V78A	probably damaging	Het
Myh4	A	G	11: 67,141,594 (GRCm39)	I818V	probably benign	Het
Nol4	T	C	18: 22,956,629 (GRCm39)		probably null	Het
Plekha5	A	G	6: 140,496,582 (GRCm39)	N362S	probably damaging	Het
Polr1b	A	G	2: 128,945,054 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,289,831 (GRCm39)		probably null	Het
Sgsm3	A	G	15: 80,890,946 (GRCm39)	N136D	probably benign	Het
Slco1a5	A	G	6: 142,181,976 (GRCm39)	C583R	probably damaging	Het
Surf1	A	G	2: 26,806,295 (GRCm39)	W13R	probably damaging	Het
Tesk2	T	C	4: 116,658,954 (GRCm39)	W276R	possibly damaging	Het
Tmem8b	A	G	4: 43,673,892 (GRCm39)		probably benign	Het
Ttll11	A	G	2: 35,869,546 (GRCm39)	S31P	unknown	Het
Ttll8	A	G	15: 88,820,336 (GRCm39)		probably benign	Het
Tub	A	G	7: 108,626,240 (GRCm39)	K259E	probably damaging	Het
Ube2o	T	C	11: 116,439,683 (GRCm39)	I162M	probably benign	Het
Vamp8	C	T	6: 72,365,326 (GRCm39)	M1I	probably null	Het
Zfp503	C	A	14: 22,036,032 (GRCm39)	G295*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCCTCAGAAAAGGGAAATGC -3'
(R):5'- TGGCCTTGCAGTACTCAAGG -3'

Sequencing Primer
(F):5'- GAAGAGAGAACCTTGCTTACTGTCC -3'
(R):5'- TGCAGTACTCAAGGAGCTTC -3'

Posted On

2014-11-12