Mutagenetix > Incidental Mutation

Incidental Mutation 'R6706:Togaram1'

528954

Institutional Source

Beutler Lab

Gene Symbol

Togaram1

Ensembl Gene

ENSMUSG00000035614

Gene Name

TOG array regulator of axonemal microtubules 1

Synonyms

A430041B07Rik, Fam179b

MMRRC Submission

044824-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R6706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65012578-65069347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65049383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1273 (N1273K)

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: N1223K

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: N1223K

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 benign
Transcript: ENSMUST00000223166
AA Change: N1273K

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 44,104,479 (GRCm39)	K389*	probably null	Het
Adam6a	T	G	12: 113,508,886 (GRCm39)	F420V	probably benign	Het
Alpl	T	C	4: 137,473,740 (GRCm39)	T321A	probably benign	Het
Asxl3	A	G	18: 22,586,666 (GRCm39)	D152G	probably damaging	Het
B4galt4	A	G	16: 38,578,173 (GRCm39)	T207A	probably benign	Het
Bsph2	A	T	7: 13,304,972 (GRCm39)	M1K	probably null	Het
Cacna2d1	T	A	5: 16,531,338 (GRCm39)	L535Q	probably damaging	Het
Cacna2d3	T	C	14: 28,846,642 (GRCm39)		probably null	Het
Chrdl2	T	C	7: 99,659,328 (GRCm39)		probably null	Het
Ctdnep1	A	G	11: 69,875,138 (GRCm39)	N54S	probably benign	Het
Dclre1a	A	T	19: 56,533,501 (GRCm39)	D364E	probably benign	Het
Dock1	A	G	7: 134,735,615 (GRCm39)	I1328V	possibly damaging	Het
Eno4	A	T	19: 58,959,112 (GRCm39)	E411D	probably benign	Het
Fbxl14	A	G	6: 119,457,716 (GRCm39)	Y299C	probably benign	Het
Fhdc1	T	C	3: 84,353,729 (GRCm39)	S499G	probably damaging	Het
Hectd4	C	T	5: 121,458,147 (GRCm39)	T771I	possibly damaging	Het
Kansl3	A	G	1: 36,383,995 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,977 (GRCm39)	H85Y	probably benign	Het
Map3k6	A	T	4: 132,978,250 (GRCm39)	K1031*	probably null	Het
Mfsd4b5	T	A	10: 39,862,413 (GRCm39)	T37S	probably benign	Het
Mgam	T	A	6: 40,721,720 (GRCm39)	V346D	probably benign	Het
Myrip	C	T	9: 120,217,359 (GRCm39)	H98Y	possibly damaging	Het
Nos2	A	G	11: 78,835,549 (GRCm39)	N443D	possibly damaging	Het
Notch2	A	T	3: 98,045,746 (GRCm39)	D1637V	possibly damaging	Het
Or4c35	T	A	2: 89,808,929 (GRCm39)	V269E	probably damaging	Het
Or6z6	G	A	7: 6,491,049 (GRCm39)	R275C	probably damaging	Het
Pank1	C	T	19: 34,789,786 (GRCm39)	G530D	probably damaging	Het
Pde4dip	G	T	3: 97,648,709 (GRCm39)	R1036S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plin2	T	C	4: 86,578,357 (GRCm39)	T247A	probably benign	Het
Rp1	T	A	1: 4,212,887 (GRCm39)	I1067F	unknown	Het
Serpinb9d	T	A	13: 33,380,541 (GRCm39)	N142K	probably benign	Het
Slc12a5	A	G	2: 164,830,509 (GRCm39)	Y639C	probably damaging	Het
Tfap2c	A	G	2: 172,399,276 (GRCm39)	M508V	probably benign	Het
Tmprss11d	T	C	5: 86,478,962 (GRCm39)	N147S	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Uggt2	T	A	14: 119,308,293 (GRCm39)	I363F	probably damaging	Het
Vmn2r63	T	A	7: 42,578,001 (GRCm39)	D179V	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
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
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'- GCTCAGTGTCAAGTTTTAGTTCTTC -3'
(R):5'- AAGGGTTGTTAACTTACCAGTCC -3'

Sequencing Primer
(F):5'- CTTCAAATAGTCAGTCTTGCATAGTC -3'
(R):5'- TTACCAGTCCTCATCGGCTAAAAG -3'

Posted On

2018-07-24