Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Togaram1'

215387

Institutional Source

Beutler Lab

Gene Symbol

Togaram1

Ensembl Gene

ENSMUSG00000035614

Gene Name

TOG array regulator of axonemal microtubules 1

Synonyms

Fam179b, A430041B07Rik

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64965804-65022573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64966935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 320 (Y320C)

Ref Sequence

ENSEMBL: ENSMUSP00000152616 (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: Y320C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: Y320C

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: Y293C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221957

Predicted Effect

probably benign
Transcript: ENSMUST00000222508

Predicted Effect

probably damaging
Transcript: ENSMUST00000223166
AA Change: Y320C

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

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
Aak1	T	G	6: 86,956,336	S430A	unknown	Het
Abhd16a	T	A	17: 35,101,015	F337L	probably benign	Het
Acsl1	C	A	8: 46,530,986	A514E	probably benign	Het
Adam29	T	C	8: 55,873,089	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,599	Q647K	probably benign	Het
Adamts20	T	A	15: 94,404,010	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,342,411	E961G	possibly damaging	Het
AU022751	T	C	X: 6,082,763	E66G	probably benign	Het
AW011738	T	C	4: 156,203,540		probably benign	Het
Bcl9	T	C	3: 97,205,144	M1332V	probably damaging	Het
Birc6	T	C	17: 74,565,982	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,332	I139F	probably damaging	Het
Col4a4	A	C	1: 82,466,600		probably null	Het
Coro2a	A	T	4: 46,539,138	*544R	probably null	Het
Cox15	C	T	19: 43,746,785	R181H	probably benign	Het
Ddx23	G	A	15: 98,650,718	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,133,252	N278D	probably benign	Het
Dgkh	T	C	14: 78,616,505	I265V	probably damaging	Het
Diexf	T	A	1: 193,118,309	K401I	probably damaging	Het
Dpp3	A	T	19: 4,917,860		probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Ece1	A	G	4: 137,938,763	K306R	probably benign	Het
Eif4b	T	C	15: 102,088,976	S309P	unknown	Het
Eml3	G	A	19: 8,937,143	V507M	probably benign	Het
Fat1	C	T	8: 45,044,228	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,907	I309L	probably damaging	Het
Fsip2	T	A	2: 82,986,733	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,638,237	K206E	probably damaging	Het
Gfm1	A	G	3: 67,456,585	K465E	probably benign	Het
Gpld1	A	T	13: 24,943,710	I32L	possibly damaging	Het
Hist1h4k	A	T	13: 21,750,512		probably null	Het
Hoxd12	A	G	2: 74,675,513	T143A	probably benign	Het
Hoxd12	A	G	2: 74,675,531	T149A	probably benign	Het
Hspg2	T	A	4: 137,540,230	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,541,222	N287I	probably damaging	Het
Itga4	G	A	2: 79,313,844		probably null	Het
Itpr2	A	G	6: 146,240,354	V1730A	probably benign	Het
Klkb1	T	A	8: 45,275,477	Q415L	probably benign	Het
Lcn10	A	G	2: 25,684,335	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,536,268	V294A	probably damaging	Het
Lrp5	C	T	19: 3,610,131	V978I	probably benign	Het
Naaa	A	G	5: 92,278,035	V33A	probably benign	Het
Nckap5l	A	G	15: 99,427,261	F454L	probably damaging	Het
Nol10	A	G	12: 17,348,554	M1V	probably null	Het
Olfm1	G	A	2: 28,222,662		probably null	Het
Olfr520	G	T	7: 99,735,860	R239L	possibly damaging	Het
Olfr784	T	A	10: 129,387,876	M81K	probably benign	Het
Olfr849	T	C	9: 19,441,351	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,726,333		probably null	Het
Osbpl1a	T	A	18: 12,905,194	Q269L	probably benign	Het
Papss2	T	A	19: 32,638,968	C191*	probably null	Het
Pbxip1	A	T	3: 89,447,677		probably null	Het
Pdp1	A	G	4: 11,962,074	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612	T452A	probably benign	Het
Polr2a	A	T	11: 69,735,375	Y1612N	unknown	Het
Polr3c	A	T	3: 96,719,298	L270H	probably damaging	Het
Prr11	A	T	11: 87,106,042	L32*	probably null	Het
Ptgfr	T	A	3: 151,835,194	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Rps6kb1	A	G	11: 86,532,821	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,093,933	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,267,508	S924P	probably benign	Het
Slc16a5	A	T	11: 115,469,368	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,314,446	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spata3	A	C	1: 86,022,061		probably benign	Het
St8sia6	A	G	2: 13,792,812	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698	R470*	probably null	Het
Stradb	A	C	1: 58,991,105	N173H	probably benign	Het
Sugp1	T	A	8: 70,071,540	D598E	probably benign	Het
Tekt2	T	C	4: 126,322,817		probably null	Het
Tiam2	C	T	17: 3,514,725	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,569,062	S301G	probably benign	Het
Tnrc18	A	T	5: 142,776,324	N515K	unknown	Het
Trim41	A	G	11: 48,807,492	V549A	probably damaging	Het
Ugt2b1	T	A	5: 86,917,841	L446F	probably damaging	Het
Unc5b	T	C	10: 60,772,569	T621A	probably benign	Het
Vmn1r214	C	A	13: 23,035,324	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,553,810	K428*	probably null	Het
Vmn2r81	A	C	10: 79,293,494	I740L	probably damaging	Het
Wdfy3	A	G	5: 101,941,492	L612P	probably damaging	Het
Zfp109	G	A	7: 24,228,736	T424M	probably damaging	Het
Zfp735	A	T	11: 73,711,851	K540N	possibly damaging	Het

Other mutations in Togaram1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Togaram1	APN	12	65006399	missense	probably damaging	1.00
IGL01128:Togaram1	APN	12	64980876	missense	probably benign	0.01
IGL01406:Togaram1	APN	12	64995578	missense	possibly damaging	0.81
IGL01534:Togaram1	APN	12	64966547	missense	probably damaging	0.99
IGL01569:Togaram1	APN	12	64982662	missense	possibly damaging	0.81
IGL01927:Togaram1	APN	12	64976702	missense	probably benign	0.31
IGL02066:Togaram1	APN	12	64983421	missense	probably damaging	1.00
IGL02746:Togaram1	APN	12	64966496	nonsense	probably null
IGL02878:Togaram1	APN	12	64992626	missense	possibly damaging	0.60
IGL02947:Togaram1	APN	12	65021500	missense	probably damaging	1.00
IGL02961:Togaram1	APN	12	64966710	missense	probably damaging	1.00
PIT4810001:Togaram1	UTSW	12	64983512	missense	probably damaging	1.00
R0483:Togaram1	UTSW	12	65007031	missense	probably damaging	1.00
R0519:Togaram1	UTSW	12	64966002	unclassified	probably benign
R0584:Togaram1	UTSW	12	64967505	missense	probably damaging	1.00
R0646:Togaram1	UTSW	12	65021466	missense	probably damaging	1.00
R0749:Togaram1	UTSW	12	64982698	missense	possibly damaging	0.87
R0891:Togaram1	UTSW	12	64982647	missense	probably benign	0.01
R1111:Togaram1	UTSW	12	65006341	missense	probably damaging	1.00
R1349:Togaram1	UTSW	12	65011145	missense	probably damaging	0.99
R1531:Togaram1	UTSW	12	64966265	missense	probably benign	0.01
R1618:Togaram1	UTSW	12	64967073	missense	possibly damaging	0.47
R1672:Togaram1	UTSW	12	65021568	missense	probably benign	0.00
R1789:Togaram1	UTSW	12	65002635	missense	possibly damaging	0.47
R1822:Togaram1	UTSW	12	64995635	missense	probably damaging	0.98
R1930:Togaram1	UTSW	12	64966935	missense	probably damaging	1.00
R2006:Togaram1	UTSW	12	65019140	missense	probably damaging	1.00
R2018:Togaram1	UTSW	12	65002659	missense	possibly damaging	0.76
R2304:Togaram1	UTSW	12	64976856	splice site	probably null
R2345:Togaram1	UTSW	12	65008632	missense	probably benign	0.05
R2407:Togaram1	UTSW	12	64967670	missense	probably damaging	1.00
R2853:Togaram1	UTSW	12	65016612	missense	probably benign	0.40
R3123:Togaram1	UTSW	12	64966344	missense	probably damaging	1.00
R3124:Togaram1	UTSW	12	64966344	missense	probably damaging	1.00
R3125:Togaram1	UTSW	12	64966344	missense	probably damaging	1.00
R3693:Togaram1	UTSW	12	64983509	missense	probably benign	0.34
R3857:Togaram1	UTSW	12	64980859	missense	possibly damaging	0.64
R3870:Togaram1	UTSW	12	65002645	missense	probably benign	0.00
R3871:Togaram1	UTSW	12	65002645	missense	probably benign	0.00
R4398:Togaram1	UTSW	12	64980856	missense	probably benign
R4578:Togaram1	UTSW	12	65020326	missense	probably damaging	1.00
R4579:Togaram1	UTSW	12	64967907	missense	probably damaging	1.00
R4621:Togaram1	UTSW	12	64982450	missense	possibly damaging	0.87
R4623:Togaram1	UTSW	12	64982450	missense	possibly damaging	0.87
R4655:Togaram1	UTSW	12	64967120	missense	possibly damaging	0.91
R5080:Togaram1	UTSW	12	64983403	missense	probably benign	0.02
R5459:Togaram1	UTSW	12	64967736	missense	probably damaging	1.00
R5652:Togaram1	UTSW	12	65016650	missense	probably benign	0.13
R5857:Togaram1	UTSW	12	64995557	missense	possibly damaging	0.64
R5997:Togaram1	UTSW	12	64995538	missense	probably benign	0.00
R6090:Togaram1	UTSW	12	64967801	missense	probably benign	0.07
R6117:Togaram1	UTSW	12	64967487	missense	probably damaging	1.00
R6221:Togaram1	UTSW	12	64966546	missense	probably damaging	1.00
R6505:Togaram1	UTSW	12	64966590	missense	possibly damaging	0.78
R6545:Togaram1	UTSW	12	64978207	missense	possibly damaging	0.90
R6706:Togaram1	UTSW	12	65002609	missense	probably benign	0.16
R7041:Togaram1	UTSW	12	65020386	missense	possibly damaging	0.76
R7199:Togaram1	UTSW	12	64995518	missense	probably benign
R7284:Togaram1	UTSW	12	65008680	missense	probably benign	0.09
R7451:Togaram1	UTSW	12	64996975	missense	probably damaging	1.00
R7504:Togaram1	UTSW	12	64992617	missense	possibly damaging	0.79
R7560:Togaram1	UTSW	12	65011142	missense	possibly damaging	0.52
R7802:Togaram1	UTSW	12	64966984	nonsense	probably null
R7842:Togaram1	UTSW	12	64966459	missense	probably damaging	1.00
R7922:Togaram1	UTSW	12	64967738	missense	probably damaging	1.00
R8174:Togaram1	UTSW	12	64982691	missense	possibly damaging	0.86
R8190:Togaram1	UTSW	12	65006912	missense	probably damaging	1.00
R8264:Togaram1	UTSW	12	64995556	missense	probably benign	0.00
R8466:Togaram1	UTSW	12	64986442	missense	probably benign	0.00
R8523:Togaram1	UTSW	12	65020314	missense	probably damaging	1.00
R8861:Togaram1	UTSW	12	64980632	missense	possibly damaging	0.88
R9213:Togaram1	UTSW	12	65019132	missense	possibly damaging	0.60
R9381:Togaram1	UTSW	12	64967430	missense	probably damaging	1.00
R9396:Togaram1	UTSW	12	64967655	missense	probably damaging	0.99
R9645:Togaram1	UTSW	12	65019308	nonsense	probably null
R9784:Togaram1	UTSW	12	64967394	nonsense	probably null
X0021:Togaram1	UTSW	12	64966184	missense	probably benign	0.00
Z1177:Togaram1	UTSW	12	64966208	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TAATATCTCTGGCCCGAAAGC -3'
(R):5'- AGCATGAGGGGTCGAACTTG -3'

Sequencing Primer
(F):5'- CCGAAAGCTTGGCGATCAG -3'
(R):5'- GGGTTAAATTTTCCCAGCAACTGC -3'

Posted On

2014-07-14