Mutagenetix > Incidental Mutation

Incidental Mutation 'R5459:Togaram1'

432941

Institutional Source

Beutler Lab

Gene Symbol

Togaram1

Ensembl Gene

ENSMUSG00000035614

Gene Name

TOG array regulator of axonemal microtubules 1

Synonyms

A430041B07Rik, Fam179b

MMRRC Submission

043022-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R5459 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65012578-65069347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65014510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 587 (E587G)

Ref Sequence

ENSEMBL: ENSMUSP00000070382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021331] [ENSMUST00000066296] [ENSMUST00000222508] [ENSMUST00000223166]

AlphaFold

Q6A070

Predicted Effect

probably benign
Transcript: ENSMUST00000021331

SMART Domains

Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948

Domain	Start	End	E-Value	Type
BTB	35	132	3.55e-30	SMART
BACK	137	239	1.83e-36	SMART
Kelch	284	331	3.52e-4	SMART
Kelch	332	386	4.23e-7	SMART
Kelch	387	433	1.99e-12	SMART
Kelch	434	479	1.64e-13	SMART
Kelch	480	526	5.12e-15	SMART
Kelch	527	571	5.29e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000066296
AA Change: E587G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: E587G

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
low complexity region	79	92	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
low complexity region	115	132	N/A	INTRINSIC
TOG	339	574	3.38e-23	SMART
low complexity region	804	815	N/A	INTRINSIC
low complexity region	988	1001	N/A	INTRINSIC
low complexity region	1011	1024	N/A	INTRINSIC
low complexity region	1033	1041	N/A	INTRINSIC
coiled coil region	1177	1206	N/A	INTRINSIC
TOG	1251	1486	4.37e-8	SMART
TOG	1533	1776	1.53e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000221836
AA Change: E560G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221957

Predicted Effect

probably benign
Transcript: ENSMUST00000222508

Predicted Effect

probably damaging
Transcript: ENSMUST00000223166
AA Change: E587G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	A	G	17: 35,879,079 (GRCm39)	E139G	possibly damaging	Het
Abcc6	T	C	7: 45,631,607 (GRCm39)	N1223S	probably benign	Het
Adamts3	A	T	5: 89,839,332 (GRCm39)		probably null	Het
Aloxe3	T	A	11: 69,023,654 (GRCm39)	F259Y	possibly damaging	Het
Armc9	G	A	1: 86,135,694 (GRCm39)	R550Q	probably damaging	Het
Ctnnd2	A	G	15: 30,887,334 (GRCm39)	D787G	probably damaging	Het
Dnah7b	A	G	1: 46,148,472 (GRCm39)	I283V	probably null	Het
Ebf2	A	G	14: 67,472,650 (GRCm39)	M23V	probably benign	Het
Fbxw11	T	C	11: 32,689,191 (GRCm39)	V438A	possibly damaging	Het
Fcrla	G	A	1: 170,745,738 (GRCm39)	T348M	possibly damaging	Het
Gpr179	A	T	11: 97,227,483 (GRCm39)	H1557Q	probably benign	Het
Gpr87	A	G	3: 59,087,148 (GRCm39)	V119A	possibly damaging	Het
Grep1	C	T	17: 23,930,817 (GRCm39)		probably benign	Het
Hfm1	A	G	5: 107,052,629 (GRCm39)	S285P	probably damaging	Het
Hs3st5	T	C	10: 36,704,742 (GRCm39)	V15A	possibly damaging	Het
Hyal5	C	T	6: 24,891,250 (GRCm39)	H355Y	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Map4k3	T	A	17: 80,917,216 (GRCm39)	N587Y	probably damaging	Het
Mcm3ap	T	A	10: 76,332,316 (GRCm39)	L1211*	probably null	Het
Mcmdc2	A	G	1: 10,007,309 (GRCm39)	I620V	probably benign	Het
Mical2	C	T	7: 111,981,444 (GRCm39)	H539Y	probably benign	Het
Myo9a	T	C	9: 59,791,803 (GRCm39)	L1802P	probably damaging	Het
Neto2	T	A	8: 86,397,112 (GRCm39)	I47F	probably benign	Het
Oog3	G	A	4: 143,885,815 (GRCm39)	T261I	probably benign	Het
Or5b95	A	G	19: 12,657,799 (GRCm39)	E109G	probably damaging	Het
Pdilt	A	G	7: 119,086,158 (GRCm39)	L519P	probably benign	Het
Pnpla6	A	T	8: 3,585,829 (GRCm39)	M844L	probably benign	Het
Polk	C	T	13: 96,631,984 (GRCm39)	G250R	probably damaging	Het
Rasal2	A	G	1: 156,985,231 (GRCm39)	S839P	probably damaging	Het
Siae	T	C	9: 37,528,119 (GRCm39)	Y31H	probably damaging	Het
Slc27a2	T	C	2: 126,422,912 (GRCm39)	V379A	probably damaging	Het
Snx9	C	T	17: 5,970,913 (GRCm39)	T418M	probably damaging	Het
Spata31e2	A	C	1: 26,724,272 (GRCm39)	S303A	probably damaging	Het
Srp72	A	G	5: 77,132,185 (GRCm39)	T258A	probably benign	Het
Tango6	T	A	8: 107,576,921 (GRCm39)	D1058E	probably damaging	Het
Tecpr1	T	A	5: 144,144,234 (GRCm39)	Y656F	probably damaging	Het
Tnik	T	A	3: 28,715,890 (GRCm39)	I1168K	probably damaging	Het
Tyw1	A	C	5: 130,303,547 (GRCm39)	D305A	probably damaging	Het
Vmn1r19	T	A	6: 57,381,475 (GRCm39)	Y9*	probably null	Het
Zkscan3	A	T	13: 21,578,982 (GRCm39)	V142E	probably damaging	Het

Other mutations in Togaram1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Togaram1	APN	12	65,053,173 (GRCm39)	missense	probably damaging	1.00
IGL01128:Togaram1	APN	12	65,027,650 (GRCm39)	missense	probably benign	0.01
IGL01406:Togaram1	APN	12	65,042,352 (GRCm39)	missense	possibly damaging	0.81
IGL01534:Togaram1	APN	12	65,013,321 (GRCm39)	missense	probably damaging	0.99
IGL01569:Togaram1	APN	12	65,029,436 (GRCm39)	missense	possibly damaging	0.81
IGL01927:Togaram1	APN	12	65,023,476 (GRCm39)	missense	probably benign	0.31
IGL02066:Togaram1	APN	12	65,030,195 (GRCm39)	missense	probably damaging	1.00
IGL02746:Togaram1	APN	12	65,013,270 (GRCm39)	nonsense	probably null
IGL02878:Togaram1	APN	12	65,039,400 (GRCm39)	missense	possibly damaging	0.60
IGL02947:Togaram1	APN	12	65,068,274 (GRCm39)	missense	probably damaging	1.00
IGL02961:Togaram1	APN	12	65,013,484 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Togaram1	UTSW	12	65,030,286 (GRCm39)	missense	probably damaging	1.00
R0483:Togaram1	UTSW	12	65,053,805 (GRCm39)	missense	probably damaging	1.00
R0519:Togaram1	UTSW	12	65,012,776 (GRCm39)	unclassified	probably benign
R0584:Togaram1	UTSW	12	65,014,279 (GRCm39)	missense	probably damaging	1.00
R0646:Togaram1	UTSW	12	65,068,240 (GRCm39)	missense	probably damaging	1.00
R0749:Togaram1	UTSW	12	65,029,472 (GRCm39)	missense	possibly damaging	0.87
R0891:Togaram1	UTSW	12	65,029,421 (GRCm39)	missense	probably benign	0.01
R1111:Togaram1	UTSW	12	65,053,115 (GRCm39)	missense	probably damaging	1.00
R1349:Togaram1	UTSW	12	65,057,919 (GRCm39)	missense	probably damaging	0.99
R1531:Togaram1	UTSW	12	65,013,039 (GRCm39)	missense	probably benign	0.01
R1618:Togaram1	UTSW	12	65,013,847 (GRCm39)	missense	possibly damaging	0.47
R1672:Togaram1	UTSW	12	65,068,342 (GRCm39)	missense	probably benign	0.00
R1789:Togaram1	UTSW	12	65,049,409 (GRCm39)	missense	possibly damaging	0.47
R1822:Togaram1	UTSW	12	65,042,409 (GRCm39)	missense	probably damaging	0.98
R1930:Togaram1	UTSW	12	65,013,709 (GRCm39)	missense	probably damaging	1.00
R1931:Togaram1	UTSW	12	65,013,709 (GRCm39)	missense	probably damaging	1.00
R2006:Togaram1	UTSW	12	65,065,914 (GRCm39)	missense	probably damaging	1.00
R2018:Togaram1	UTSW	12	65,049,433 (GRCm39)	missense	possibly damaging	0.76
R2304:Togaram1	UTSW	12	65,023,630 (GRCm39)	splice site	probably null
R2345:Togaram1	UTSW	12	65,055,406 (GRCm39)	missense	probably benign	0.05
R2407:Togaram1	UTSW	12	65,014,444 (GRCm39)	missense	probably damaging	1.00
R2853:Togaram1	UTSW	12	65,063,386 (GRCm39)	missense	probably benign	0.40
R3123:Togaram1	UTSW	12	65,013,118 (GRCm39)	missense	probably damaging	1.00
R3124:Togaram1	UTSW	12	65,013,118 (GRCm39)	missense	probably damaging	1.00
R3125:Togaram1	UTSW	12	65,013,118 (GRCm39)	missense	probably damaging	1.00
R3693:Togaram1	UTSW	12	65,030,283 (GRCm39)	missense	probably benign	0.34
R3857:Togaram1	UTSW	12	65,027,633 (GRCm39)	missense	possibly damaging	0.64
R3870:Togaram1	UTSW	12	65,049,419 (GRCm39)	missense	probably benign	0.00
R3871:Togaram1	UTSW	12	65,049,419 (GRCm39)	missense	probably benign	0.00
R4398:Togaram1	UTSW	12	65,027,630 (GRCm39)	missense	probably benign
R4578:Togaram1	UTSW	12	65,067,100 (GRCm39)	missense	probably damaging	1.00
R4579:Togaram1	UTSW	12	65,014,681 (GRCm39)	missense	probably damaging	1.00
R4621:Togaram1	UTSW	12	65,029,224 (GRCm39)	missense	possibly damaging	0.87
R4623:Togaram1	UTSW	12	65,029,224 (GRCm39)	missense	possibly damaging	0.87
R4655:Togaram1	UTSW	12	65,013,894 (GRCm39)	missense	possibly damaging	0.91
R5080:Togaram1	UTSW	12	65,030,177 (GRCm39)	missense	probably benign	0.02
R5652:Togaram1	UTSW	12	65,063,424 (GRCm39)	missense	probably benign	0.13
R5857:Togaram1	UTSW	12	65,042,331 (GRCm39)	missense	possibly damaging	0.64
R5997:Togaram1	UTSW	12	65,042,312 (GRCm39)	missense	probably benign	0.00
R6090:Togaram1	UTSW	12	65,014,575 (GRCm39)	missense	probably benign	0.07
R6117:Togaram1	UTSW	12	65,014,261 (GRCm39)	missense	probably damaging	1.00
R6221:Togaram1	UTSW	12	65,013,320 (GRCm39)	missense	probably damaging	1.00
R6505:Togaram1	UTSW	12	65,013,364 (GRCm39)	missense	possibly damaging	0.78
R6545:Togaram1	UTSW	12	65,024,981 (GRCm39)	missense	possibly damaging	0.90
R6706:Togaram1	UTSW	12	65,049,383 (GRCm39)	missense	probably benign	0.16
R7041:Togaram1	UTSW	12	65,067,160 (GRCm39)	missense	possibly damaging	0.76
R7199:Togaram1	UTSW	12	65,042,292 (GRCm39)	missense	probably benign
R7284:Togaram1	UTSW	12	65,055,454 (GRCm39)	missense	probably benign	0.09
R7451:Togaram1	UTSW	12	65,043,749 (GRCm39)	missense	probably damaging	1.00
R7504:Togaram1	UTSW	12	65,039,391 (GRCm39)	missense	possibly damaging	0.79
R7560:Togaram1	UTSW	12	65,057,916 (GRCm39)	missense	possibly damaging	0.52
R7802:Togaram1	UTSW	12	65,013,758 (GRCm39)	nonsense	probably null
R7842:Togaram1	UTSW	12	65,013,233 (GRCm39)	missense	probably damaging	1.00
R7922:Togaram1	UTSW	12	65,014,512 (GRCm39)	missense	probably damaging	1.00
R8174:Togaram1	UTSW	12	65,029,465 (GRCm39)	missense	possibly damaging	0.86
R8190:Togaram1	UTSW	12	65,053,686 (GRCm39)	missense	probably damaging	1.00
R8264:Togaram1	UTSW	12	65,042,330 (GRCm39)	missense	probably benign	0.00
R8466:Togaram1	UTSW	12	65,033,216 (GRCm39)	missense	probably benign	0.00
R8523:Togaram1	UTSW	12	65,067,088 (GRCm39)	missense	probably damaging	1.00
R8861:Togaram1	UTSW	12	65,027,406 (GRCm39)	missense	possibly damaging	0.88
R9213:Togaram1	UTSW	12	65,065,906 (GRCm39)	missense	possibly damaging	0.60
R9381:Togaram1	UTSW	12	65,014,204 (GRCm39)	missense	probably damaging	1.00
R9396:Togaram1	UTSW	12	65,014,429 (GRCm39)	missense	probably damaging	0.99
R9645:Togaram1	UTSW	12	65,066,082 (GRCm39)	nonsense	probably null
R9784:Togaram1	UTSW	12	65,014,168 (GRCm39)	nonsense	probably null
X0021:Togaram1	UTSW	12	65,012,958 (GRCm39)	missense	probably benign	0.00
Z1177:Togaram1	UTSW	12	65,012,982 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GCTCCAGCTCTTGTGGATAG -3'
(R):5'- CCCTTCGGGTACAGATAGTTGG -3'

Sequencing Primer
(F):5'- CTCTTGTGGATAGCAAACGC -3'
(R):5'- TGGACTGTAGGATCCATAAAGTTGC -3'

Posted On

2016-10-06