Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00593:Togaram1'

5987

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Togaram1

Ensembl Gene

ENSMUSG00000035614

Gene Name

TOG array regulator of axonemal microtubules 1

Synonyms

Fam179b, A430041B07Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.766) question?

Stock #

IGL00593

Quality Score

Status

Chromosome

Chromosomal Location

64965804-65022573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65006399 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1301 (E1301G)

Ref Sequence

ENSEMBL: ENSMUSP00000070382 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066296
AA Change: E1301G

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

SMART Domains

Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: E1301G

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

probably damaging
Transcript: ENSMUST00000223166
AA Change: E1351G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr2	A	T	X: 21,486,480	K118*	probably null	Het
Akap14	A	T	X: 37,150,831	H525Q	possibly damaging	Het
Crb1	T	C	1: 139,323,245	I323V	probably benign	Het
H60b	T	C	10: 22,287,063	I179T	possibly damaging	Het
Krt34	A	G	11: 100,038,694		probably benign	Het
Mroh9	T	C	1: 163,045,781	N541D	possibly damaging	Het
Plxnb1	A	T	9: 109,113,868	I1841F	probably benign	Het
Ppp4r3b	A	G	11: 29,197,205	D3G	possibly damaging	Het
Rp1	T	C	1: 4,345,403	T1829A	possibly damaging	Het
Ssx2ip	T	C	3: 146,436,552	F468L	probably damaging	Het
Tpd52l2	A	T	2: 181,499,896	D24V	probably damaging	Het
Trmo	A	G	4: 46,382,490	V209A	probably benign	Het
Zfp141	A	T	7: 42,475,307	C580*	probably null	Het
Zfp422	C	A	6: 116,626,958	A27S	probably benign	Het
Zfp786	A	T	6: 47,819,671	*778R	probably null	Het

Other mutations in Togaram1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1931: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
X0021:Togaram1	UTSW	12	64966184	missense	probably benign	0.00

Posted On

2012-04-20