Mutagenetix > Incidental Mutation

Incidental Mutation 'R3857:Togaram1'

276221

Institutional Source

Beutler Lab

Gene Symbol

Togaram1

Ensembl Gene

ENSMUSG00000035614

Gene Name

TOG array regulator of axonemal microtubules 1

Synonyms

A430041B07Rik, Fam179b

MMRRC Submission

040785-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R3857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65012578-65069347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65027633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 874 (Q874R)

Ref Sequence

ENSEMBL: ENSMUSP00000152616 (fasta)

Gene Model

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

AlphaFold

Q6A070

Predicted Effect

probably benign
Transcript: ENSMUST00000066296
AA Change: Q874R

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: Q874R

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

noncoding transcript
Transcript: ENSMUST00000221400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221808

Predicted Effect

probably benign
Transcript: ENSMUST00000221836

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223166
AA Change: Q874R

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223311

Meta Mutation Damage Score

0.0761

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 96.7%
20x: 92.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bdkrb2	T	C	12: 105,558,698 (GRCm39)	V313A	probably benign	Het
Ccng1	A	G	11: 40,644,660 (GRCm39)	L79P	probably damaging	Het
Celf1	A	G	2: 90,843,086 (GRCm39)	E411G	probably damaging	Het
Cps1	A	G	1: 67,207,437 (GRCm39)	Y582C	probably damaging	Het
Dnah8	A	G	17: 30,882,396 (GRCm39)	D656G	probably damaging	Het
Eif1ad17	T	A	12: 87,979,016 (GRCm39)	D133E	unknown	Het
Erc2	A	G	14: 28,197,599 (GRCm39)		probably benign	Het
Ercc8	A	G	13: 108,330,648 (GRCm39)	E395G	possibly damaging	Het
Ezhip	A	G	X: 5,994,710 (GRCm39)	S102P	possibly damaging	Het
F13a1	A	G	13: 37,209,668 (GRCm39)	L99P	probably benign	Het
Fzd3	A	T	14: 65,477,288 (GRCm39)	C89S	possibly damaging	Het
Gse1	T	A	8: 121,297,872 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hs3st1	G	A	5: 39,772,256 (GRCm39)	T129I	probably damaging	Het
Irx1	A	T	13: 72,111,577 (GRCm39)	Y11N	possibly damaging	Het
Kdm3b	T	A	18: 34,966,440 (GRCm39)	I1658N	probably benign	Het
Mtmr4	G	A	11: 87,488,088 (GRCm39)	V24M	probably damaging	Het
Nfatc1	T	C	18: 80,708,490 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,971,795 (GRCm39)		probably benign	Het
Pcna	A	T	2: 132,091,541 (GRCm39)	S261T	probably benign	Het
Pigr	T	C	1: 130,774,998 (GRCm39)	V475A	probably benign	Het
Pitpnc1	T	C	11: 107,211,631 (GRCm39)		probably null	Het
Psph	A	G	5: 129,848,540 (GRCm39)	M47T	probably damaging	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Rtn4rl2	A	G	2: 84,710,730 (GRCm39)		probably null	Het
Senp6	A	G	9: 79,999,603 (GRCm39)	T7A	possibly damaging	Het
Slc4a1	A	T	11: 102,247,947 (GRCm39)	V349E	probably benign	Het
Spice1	T	C	16: 44,175,806 (GRCm39)	S2P	probably damaging	Het
Spty2d1	G	A	7: 46,648,044 (GRCm39)	T295I	probably benign	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Ttn	T	A	2: 76,739,319 (GRCm39)	D3740V	probably benign	Het
Unc13c	G	T	9: 73,606,390 (GRCm39)	Y1323*	probably null	Het
Vmn1r19	A	T	6: 57,382,098 (GRCm39)	Y217F	possibly damaging	Het
Zfp101	G	T	17: 33,601,405 (GRCm39)	S79*	probably null	Het
Zfp512	G	T	5: 31,630,184 (GRCm39)	R222L	probably damaging	Het
Zfyve16	A	T	13: 92,631,479 (GRCm39)	I1372N	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
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
R5459:Togaram1	UTSW	12	65,014,510 (GRCm39)	missense	probably damaging	1.00
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'- ATGCAAGTCCAGGATCCTTCATC -3'
(R):5'- AGAACTGTCTCTTTCCCAGGTC -3'

Sequencing Primer
(F):5'- GATCCTTCATCCTTCCATCCTATC -3'
(R):5'- CATTACAGATGGTTGTGAGCCAC -3'

Posted On

2015-04-06