Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02947:Togaram1'

364799

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Togaram1

Ensembl Gene

ENSMUSG00000035614

Gene Name

TOG array regulator of axonemal microtubules 1

Synonyms

A430041B07Rik, Fam179b

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

IGL02947

Quality Score

Status

Chromosome

Chromosomal Location

65012578-65069347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65068274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1709 (V1709D)

Ref Sequence

ENSEMBL: ENSMUSP00000070382 (fasta)

Gene Model

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

AlphaFold

Q6A070

Predicted Effect

probably damaging
Transcript: ENSMUST00000066296
AA Change: V1709D

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

SMART Domains

Protein: ENSMUSP00000070382
Gene: ENSMUSG00000035614
AA Change: V1709D

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: ENSMUST00000222425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222473

Predicted Effect

probably damaging
Transcript: ENSMUST00000223166
AA Change: V1759D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,957 (GRCm39)	V13A	probably benign	Het
Atp8b5	T	A	4: 43,305,774 (GRCm39)	I106K	possibly damaging	Het
Cdh15	T	C	8: 123,592,111 (GRCm39)	S633P	probably benign	Het
Celsr3	A	G	9: 108,723,134 (GRCm39)	T228A	probably benign	Het
Cfap90	T	A	13: 68,759,312 (GRCm39)	F95L	probably benign	Het
Chrng	A	G	1: 87,137,606 (GRCm39)		probably null	Het
Coprs	T	C	8: 13,935,782 (GRCm39)	E79G	probably damaging	Het
Cpb2	A	C	14: 75,520,758 (GRCm39)	Y391S	probably damaging	Het
Cyp2j8	A	T	4: 96,358,815 (GRCm39)	I368N	probably damaging	Het
Ddah1	T	C	3: 145,464,842 (GRCm39)	F76L	probably benign	Het
Eif2ak4	A	G	2: 118,261,514 (GRCm39)	T573A	probably benign	Het
Exoc6b	T	A	6: 84,835,411 (GRCm39)	M375L	probably benign	Het
Fasn	T	C	11: 120,706,502 (GRCm39)	E994G	probably damaging	Het
Fem1a	T	A	17: 56,565,640 (GRCm39)	C578S	probably benign	Het
Garnl3	A	G	2: 32,936,606 (GRCm39)	S188P	probably damaging	Het
Gpn3	T	C	5: 122,516,551 (GRCm39)	V60A	possibly damaging	Het
Hnrnpr	A	G	4: 136,043,690 (GRCm39)	D59G	probably damaging	Het
Hydin	A	T	8: 111,145,094 (GRCm39)	E815V	probably damaging	Het
Itga9	C	T	9: 118,487,601 (GRCm39)	T228M	probably damaging	Het
Kpna7	T	C	5: 144,930,884 (GRCm39)	I320M	probably damaging	Het
Lnpep	T	C	17: 17,791,234 (GRCm39)	T437A	probably damaging	Het
Ltf	C	T	9: 110,868,015 (GRCm39)	T48I	probably benign	Het
Masp1	T	G	16: 23,313,476 (GRCm39)	D153A	probably damaging	Het
Mcpt9	T	A	14: 56,264,373 (GRCm39)	R241*	probably null	Het
Msantd4	T	A	9: 4,384,787 (GRCm39)	S171T	probably damaging	Het
Nos1	G	A	5: 118,081,382 (GRCm39)	V1229M	probably damaging	Het
Npc1l1	A	G	11: 6,179,246 (GRCm39)	S55P	probably benign	Het
Oc90	T	C	15: 65,759,983 (GRCm39)	K212R	probably benign	Het
Or2a12	A	G	6: 42,904,830 (GRCm39)	I222V	probably benign	Het
Or5t15	C	T	2: 86,681,130 (GRCm39)	R304K	probably benign	Het
Or6c202	C	A	10: 128,996,439 (GRCm39)	C138F	probably damaging	Het
Prr12	T	A	7: 44,697,980 (GRCm39)	Q645L	unknown	Het
Psmd9	A	G	5: 123,384,278 (GRCm39)	I145V	probably benign	Het
Rbks	T	C	5: 31,817,407 (GRCm39)	I121V	probably benign	Het
Rnase2b	A	T	14: 51,400,264 (GRCm39)	Y115F	probably damaging	Het
Sarnp	A	G	10: 128,675,723 (GRCm39)	E78G	probably benign	Het
Sltm	A	G	9: 70,498,946 (GRCm39)	S1007G	probably benign	Het
Spata31d1c	T	A	13: 65,182,759 (GRCm39)	Y100*	probably null	Het
Srrm2	T	C	17: 24,029,720 (GRCm39)	S222P	probably benign	Het
Sult3a1	G	A	10: 33,740,046 (GRCm39)	R35Q	possibly damaging	Het
Tfap4	T	C	16: 4,369,224 (GRCm39)	D132G	probably damaging	Het
Tmem53	C	T	4: 117,125,285 (GRCm39)	Q111*	probably null	Het
Trpm3	A	T	19: 22,878,483 (GRCm39)	D628V	probably damaging	Het
Ttn	T	A	2: 76,544,838 (GRCm39)	K31009*	probably null	Het
Vldlr	A	G	19: 27,217,120 (GRCm39)	I58V	probably benign	Het
Vmn1r4	T	C	6: 56,934,231 (GRCm39)	F245S	probably benign	Het
Vrtn	T	A	12: 84,695,258 (GRCm39)	S3T	probably damaging	Het
Vwa7	A	G	17: 35,242,476 (GRCm39)		probably null	Het
Wrnip1	T	A	13: 33,006,053 (GRCm39)	Y632N	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
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
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

Posted On

2015-12-18