Mutagenetix > Incidental Mutation

Incidental Mutation 'R7041:Togaram1'

547070

Institutional Source

Beutler Lab

Gene Symbol

Togaram1

Ensembl Gene

ENSMUSG00000035614

Gene Name

TOG array regulator of axonemal microtubules 1

Synonyms

A430041B07Rik, Fam179b

MMRRC Submission

045140-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R7041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65012578-65069347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65067160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1684 (T1684I)

Ref Sequence

ENSEMBL: ENSMUSP00000070382 (fasta)

Gene Model

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

AlphaFold

Q6A070

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066296
AA Change: T1684I

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: T1684I

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: T1734I

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	T	7: 78,748,096 (GRCm39)	E956*	probably null	Het
Adam25	A	T	8: 41,207,121 (GRCm39)	H129L	probably benign	Het
Adgrl4	A	T	3: 151,144,959 (GRCm39)	H36L	probably benign	Het
Ago1	T	A	4: 126,357,499 (GRCm39)	I59F	possibly damaging	Het
Anapc1	A	T	2: 128,470,576 (GRCm39)	V1518E	possibly damaging	Het
Atxn1	A	G	13: 45,720,311 (GRCm39)	I528T	probably damaging	Het
B4galnt4	A	G	7: 140,650,593 (GRCm39)	H820R	probably damaging	Het
Cacna1h	T	C	17: 25,612,977 (GRCm39)	E282G	probably damaging	Het
Camk1	T	A	6: 113,316,475 (GRCm39)	M95L	probably benign	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cav1	A	G	6: 17,339,143 (GRCm39)	E45G	possibly damaging	Het
Ccdc183	T	G	2: 25,503,682 (GRCm39)	E185A	probably benign	Het
Ccl2	T	A	11: 81,926,489 (GRCm39)	M1K	probably null	Het
Cep97	T	A	16: 55,726,117 (GRCm39)	H590L	probably benign	Het
Dsg1c	A	T	18: 20,399,201 (GRCm39)	I102F	probably damaging	Het
Fcho2	A	G	13: 98,921,334 (GRCm39)	Y184H	possibly damaging	Het
Gart	C	T	16: 91,440,031 (GRCm39)		probably benign	Het
Gask1a	A	T	9: 121,794,467 (GRCm39)	Q207L	probably damaging	Het
Golga3	G	A	5: 110,356,450 (GRCm39)		probably null	Het
Hint3	G	T	10: 30,486,380 (GRCm39)	A133E	probably damaging	Het
Hspe1	T	C	1: 55,128,376 (GRCm39)		probably null	Het
Insr	A	T	8: 3,308,418 (GRCm39)	V206E	probably benign	Het
Insrr	T	C	3: 87,722,551 (GRCm39)	S1258P	probably damaging	Het
Itga11	C	T	9: 62,659,538 (GRCm39)	T430M	probably damaging	Het
Jmjd1c	G	A	10: 67,056,388 (GRCm39)	V890I	possibly damaging	Het
Kdm4b	T	A	17: 56,703,592 (GRCm39)	S717R	probably damaging	Het
Large1	A	T	8: 73,843,092 (GRCm39)	C144S	probably damaging	Het
Lrat	G	T	3: 82,810,755 (GRCm39)	Q89K	probably benign	Het
Lrrc66	A	T	5: 73,765,899 (GRCm39)	F381L	possibly damaging	Het
Myo15a	A	G	11: 60,396,832 (GRCm39)	T2634A	probably damaging	Het
Nup205	T	G	6: 35,201,470 (GRCm39)	I1182M	possibly damaging	Het
Or2a51	T	A	6: 43,178,837 (GRCm39)	D86E	probably benign	Het
Or5m10	A	T	2: 85,717,965 (GRCm39)	I274F	probably benign	Het
Or6c66	T	A	10: 129,461,603 (GRCm39)	E109V	probably damaging	Het
Plekha6	T	A	1: 133,200,198 (GRCm39)	V259D	possibly damaging	Het
Prdm9	C	A	17: 15,765,257 (GRCm39)	A508S	possibly damaging	Het
Prickle2	A	G	6: 92,353,286 (GRCm39)	F783L	probably benign	Het
Ptprc	T	C	1: 138,054,047 (GRCm39)	S31G	probably benign	Het
Rbak	A	T	5: 143,159,226 (GRCm39)	I609N	probably damaging	Het
Rimklb	A	T	6: 122,436,176 (GRCm39)	L134*	probably null	Het
Ripor2	A	G	13: 24,877,749 (GRCm39)	I250V	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spaca6	C	T	17: 18,056,358 (GRCm39)	L118F	probably benign	Het
Tmem167	G	A	13: 90,246,533 (GRCm39)	C19Y	probably benign	Het
Trappc8	T	C	18: 21,007,729 (GRCm39)	T129A	probably benign	Het
Ubash3a	A	G	17: 31,447,184 (GRCm39)	S347G	probably benign	Het
Unc80	T	C	1: 66,542,752 (GRCm39)	S289P	probably benign	Het
Vmn2r11	A	G	5: 109,202,816 (GRCm39)	I87T	probably damaging	Het
Vmn2r54	A	T	7: 12,363,751 (GRCm39)	F381I	probably damaging	Het
Wdsub1	A	G	2: 59,683,224 (GRCm39)	L450P	probably damaging	Het
Xylt2	A	G	11: 94,558,408 (GRCm39)		probably null	Het
Zfp429	A	T	13: 67,538,830 (GRCm39)	C205S	probably damaging	Het
Zfp60	T	C	7: 27,448,451 (GRCm39)	I373T	probably benign	Het
Zfp738	A	G	13: 67,818,420 (GRCm39)	S524P	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
R6706:Togaram1	UTSW	12	65,049,383 (GRCm39)	missense	probably benign	0.16
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'- CTAAGTAGGGATTAAGTATGTGGGC -3'
(R):5'- ACAGCAGTCATATTGAATTGACAGC -3'

Sequencing Primer
(F):5'- GGGCTTCTTAAGTTATTACATCTGC -3'
(R):5'- ATTACTTCAGACTAGGCAGTGGTGAC -3'

Posted On

2019-05-13