Mutagenetix > Incidental Mutations

Incidental Mutation 'R5975:Togaram2'

471731

Institutional Source

Beutler Lab

Gene Symbol

Togaram2

Ensembl Gene

ENSMUSG00000045761

Gene Name

TOG array regulator of axonemal microtubules 2

Synonyms

Fam179a, 4632412N22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5975 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

71673261-71729669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71729205 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 897 (Y897H)

Ref Sequence

ENSEMBL: ENSMUSP00000122691 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097284
AA Change: Y897H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: Y897H

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 damaging
Transcript: ENSMUST00000144479
AA Change: Y917H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: Y917H

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 damaging
Transcript: ENSMUST00000153445
AA Change: Y897H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: Y897H

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

0.1681

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	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
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
R8454: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'- GGACCTACCTCATTTGCATTGG -3'
(R):5'- AGGCTAAAAGTCCCTGCAGC -3'

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

Posted On

2017-03-31