Mutagenetix > Incidental Mutation

Incidental Mutation 'R0268:Togaram2'

35114

Institutional Source

Beutler Lab

Gene Symbol

Togaram2

Ensembl Gene

ENSMUSG00000045761

Gene Name

TOG array regulator of axonemal microtubules 2

Synonyms

Fam179a, 4632412N22Rik

MMRRC Submission

038494-MU

Accession Numbers

Essential gene?

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

Stock #

R0268 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

71980256-72036664 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72004993 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 null
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

probably null
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 null
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

Meta Mutation Damage Score

0.9482

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 95.9%
20x: 93.0%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,274,027 (GRCm39)		noncoding transcript	Het
Aadacl4	A	T	4: 144,349,565 (GRCm39)	H274L	probably benign	Het
Aldh1a7	T	A	19: 20,686,866 (GRCm39)		probably null	Het
Ap3m1	A	C	14: 21,087,170 (GRCm39)		probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Avpr1a	T	C	10: 122,285,614 (GRCm39)	V302A	probably damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Cd209e	T	C	8: 3,899,125 (GRCm39)	I196V	probably benign	Het
Cdc42bpa	G	T	1: 179,983,347 (GRCm39)		probably benign	Het
Cdcp3	A	G	7: 130,839,905 (GRCm39)	D609G	probably damaging	Het
Clec16a	T	A	16: 10,462,692 (GRCm39)	L670*	probably null	Het
Cmtm2b	A	G	8: 105,049,066 (GRCm39)	E27G	probably damaging	Het
Col4a1	T	A	8: 11,317,588 (GRCm39)		probably benign	Het
Cyp26b1	A	T	6: 84,551,554 (GRCm39)	F221I	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dip2c	G	A	13: 9,687,186 (GRCm39)	R1270H	probably damaging	Het
Dlg1	T	C	16: 31,503,011 (GRCm39)	C73R	probably benign	Het
Dnah8	A	G	17: 30,988,681 (GRCm39)	D3217G	probably damaging	Het
Dtx1	T	C	5: 120,819,356 (GRCm39)	E614G	probably damaging	Het
Dut	C	A	2: 125,099,011 (GRCm39)	A166E	probably damaging	Het
Ebf1	C	A	11: 44,534,240 (GRCm39)	D166E	probably damaging	Het
Egln2	A	T	7: 26,864,672 (GRCm39)	D84E	possibly damaging	Het
Exosc7	T	A	9: 122,948,025 (GRCm39)	S65T	probably benign	Het
Fam83e	G	A	7: 45,376,334 (GRCm39)	R349Q	probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,884,868 (GRCm39)	N2582S	probably damaging	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gls	GGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTG	1: 52,271,853 (GRCm39)		probably benign	Het
Hcn4	A	C	9: 58,767,445 (GRCm39)	E1002A	unknown	Het
Hcrtr2	A	G	9: 76,135,470 (GRCm39)	V449A	probably benign	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	C	A	12: 51,815,890 (GRCm39)	S1394I	probably damaging	Het
Hecw2	A	G	1: 53,965,857 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itsn2	G	A	12: 4,750,333 (GRCm39)	R1199Q	probably benign	Het
Kcnj3	C	A	2: 55,484,971 (GRCm39)	Y356*	probably null	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Klhl35	T	A	7: 99,120,958 (GRCm39)	S409T	probably benign	Het
Krt16	T	A	11: 100,137,351 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,450,148 (GRCm39)	R516L	probably benign	Het
Lce3a	A	T	3: 92,833,038 (GRCm39)	C21S	unknown	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Map2	A	T	1: 66,419,881 (GRCm39)	K71*	probably null	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Mycbp2	T	A	14: 103,551,761 (GRCm39)	R157*	probably null	Het
Nat10	C	A	2: 103,558,262 (GRCm39)		probably benign	Het
Obscn	G	A	11: 58,958,098 (GRCm39)	T3810M	possibly damaging	Het
Or13a19	G	A	7: 139,903,068 (GRCm39)	S152N	possibly damaging	Het
Or1x6	T	A	11: 50,939,768 (GRCm39)	M278K	probably damaging	Het
Or5d35	A	T	2: 87,855,812 (GRCm39)	I249F	probably damaging	Het
Or5g29	A	G	2: 85,421,645 (GRCm39)	T254A	possibly damaging	Het
Or6c209	A	T	10: 129,483,045 (GRCm39)	D16V	possibly damaging	Het
Or7a38	C	T	10: 78,753,439 (GRCm39)	T255I	probably damaging	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgm2	T	A	5: 64,263,151 (GRCm39)	V266E	probably damaging	Het
Phip	G	A	9: 82,753,341 (GRCm39)	T1801I	probably damaging	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Ppp1r12a	T	A	10: 108,109,242 (GRCm39)		probably benign	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Ptprq	A	T	10: 107,541,409 (GRCm39)	D372E	probably benign	Het
Ptprr	G	A	10: 116,088,868 (GRCm39)	V340I	possibly damaging	Het
Qki	A	G	17: 10,428,575 (GRCm39)		probably benign	Het
Qpct	T	A	17: 79,385,081 (GRCm39)	D240E	probably benign	Het
Ren1	A	G	1: 133,283,349 (GRCm39)	T162A	possibly damaging	Het
Rif1	T	C	2: 51,980,298 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,890,460 (GRCm39)	V461A	probably damaging	Het
Saxo4	A	G	19: 10,454,449 (GRCm39)	V329A	possibly damaging	Het
Scgb1b24	G	A	7: 33,443,278 (GRCm39)	G19R	probably null	Het
Spen	A	T	4: 141,204,868 (GRCm39)	I1253N	unknown	Het
Sspo	C	A	6: 48,442,489 (GRCm39)	H1995N	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Trim65	T	A	11: 116,017,470 (GRCm39)		probably benign	Het
Trpm3	T	A	19: 22,874,885 (GRCm39)		probably null	Het
Ubxn7	T	C	16: 32,178,864 (GRCm39)	I87T	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r102	A	G	17: 19,898,112 (GRCm39)	T376A	probably benign	Het
Vmn2r105	A	T	17: 20,428,938 (GRCm39)	C713S	probably benign	Het
Zbtb45	C	T	7: 12,742,254 (GRCm39)	M1I	probably null	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	Het
Zfp932	T	C	5: 110,156,929 (GRCm39)	I176T	probably benign	Het
Zswim1	G	A	2: 164,668,046 (GRCm39)	E433K	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGCGTCAAAGCCTTTGGTTC -3'
(R):5'- AGCCTGGTTCAGCTAAGCCTCTTC -3'

Sequencing Primer
(F):5'- TTCCAGTTGTCAAGGCCAAG -3'
(R):5'- AGCTAAGCCTCTTCCCAGC -3'

Posted On

2013-05-09