Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Togaram1'

639742

Institutional Source

Beutler Lab

Gene Symbol

Togaram1

Ensembl Gene

ENSMUSG00000035614

Gene Name

TOG array regulator of axonemal microtubules 1

Synonyms

Fam179b, A430041B07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64965804-65022573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64995556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1130 (I1130V)

Ref Sequence

ENSEMBL: ENSMUSP00000070382 (fasta)

Gene Model

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

AlphaFold

Q6A070

Predicted Effect

probably benign
Transcript: ENSMUST00000066296
AA Change: I1130V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: I1130V

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

Meta Mutation Damage Score

0.0621

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,782	C911S	probably damaging	Het
Abcc4	T	A	14: 118,594,842	N792I	possibly damaging	Het
Acacb	A	T	5: 114,207,366	H960L	probably benign	Het
Aox1	A	G	1: 58,053,714	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,473,566	S18G	probably benign	Het
Chfr	T	A	5: 110,152,434	I348N	possibly damaging	Het
Cntln	G	A	4: 85,098,411	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,807,527	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,744,792	M2896K	probably damaging	Het
Elp6	A	G	9: 110,319,687	T215A	probably damaging	Het
Esyt2	A	C	12: 116,365,920	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,929,393	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,455,032	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Galnt10	A	G	11: 57,782,206	I463V	probably benign	Het
Glce	A	G	9: 62,060,430	F480L	probably benign	Het
H2-Aa	A	G	17: 34,287,735	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,146,526	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,104,112		silent	Het
Izumo4	G	T	10: 80,702,738	G8V		Het
Klk1b5	T	A	7: 44,220,030	L178H	probably damaging	Het
Lama2	T	C	10: 27,467,222	N85D	probably benign	Het
Liph	A	C	16: 21,983,971	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,081,502	V62D	probably damaging	Het
Map3k19	T	A	1: 127,823,791	I303F		Het
Mymk	A	G	2: 27,067,856		probably benign	Het
Myo10	G	A	15: 25,800,109	V1424M	probably damaging	Het
Myof	T	G	19: 37,921,433	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,094,742		probably benign	Het
Nup214	T	A	2: 31,994,726	Y500N	possibly damaging	Het
Olfr1040	T	C	2: 86,146,194	D180G	probably damaging	Het
Papd4	C	T	13: 93,175,569	G208S	probably damaging	Het
Pappa2	T	C	1: 158,854,973	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,756,581	E95G	probably damaging	Het
Phf3	A	T	1: 30,831,057	N303K	possibly damaging	Het
Pnn	C	T	12: 59,072,577	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,152,480	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,333,450	M1762K	possibly damaging	Het
Rif1	G	A	2: 52,090,278	A496T	noncoding transcript	Het
Rnase13	A	T	14: 51,922,457	V75D	probably damaging	Het
Sema3c	G	A	5: 17,676,539		probably benign	Het
Sema4c	C	G	1: 36,552,885	G266R	probably damaging	Het
Slfn5	A	T	11: 82,956,550	D87V	probably damaging	Het
Smpd3	T	C	8: 106,264,658	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,378,074	V188A	probably benign	Het
Srms	A	G	2: 181,212,550	Y75H	probably benign	Het
Tex15	T	C	8: 33,582,362	S2646P	probably benign	Het
Ttf1	A	G	2: 29,064,677	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,768,334	T827K	probably benign	Het
Zfhx2	T	A	14: 55,065,512	T1672S	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
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
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
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'- ACCACTATCTTCTTGTCTGATTAGG -3'
(R):5'- TGCAGGAACACATAGACAAGTTC -3'

Sequencing Primer
(F):5'- CATGTGTTTGACAGTGCATT -3'
(R):5'- TTAATCCCAGCACTTGGTAGGCAG -3'

Posted On

2020-07-28