Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01845:Ttc41'

178175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL01845

Quality Score

Status

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86776624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1254 (T1254S)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075632] [ENSMUST00000099396]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075632
AA Change: T1254S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: T1254S

Domain	Start	End	E-Value	Type
low complexity region	216	229	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
Pfam:NACHT	337	515	5.4e-10	PFAM
SCOP:d1qqea_	805	1028	2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099396

SMART Domains

Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:5_nucleotid	83	526	1.8e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218802

Predicted Effect

probably benign
Transcript: ENSMUST00000219476

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	C	17: 14,944,118	L169P	probably damaging	Het
4933405L10Rik	C	A	8: 105,708,935	A75E	probably benign	Het
Abca1	A	G	4: 53,090,297	L384P	probably damaging	Het
Acox2	C	A	14: 8,251,617	M293I	probably damaging	Het
Acp6	A	G	3: 97,173,807	S288G	probably benign	Het
Arhgef12	T	A	9: 43,022,841	H127L	possibly damaging	Het
Arid2	T	G	15: 96,356,797	F175V	probably damaging	Het
Ccdc15	G	A	9: 37,315,236	Q468*	probably null	Het
Ccdc93	T	C	1: 121,463,130	I277T	probably damaging	Het
Cdh8	T	C	8: 99,098,954		probably benign	Het
Cdipt	T	C	7: 126,979,553	S145P	possibly damaging	Het
Cfap206	T	C	4: 34,719,610	N268S	possibly damaging	Het
Clcn3	A	T	8: 60,913,095	N814K	probably benign	Het
Col6a3	T	C	1: 90,796,571	D2019G	probably damaging	Het
Corin	C	A	5: 72,353,939	G432C	probably damaging	Het
Cyld	C	T	8: 88,705,775	Q134*	probably null	Het
Dhh	C	A	15: 98,897,983	R97L	probably damaging	Het
Dnah5	T	C	15: 28,449,169	V4239A	probably benign	Het
Dock2	T	C	11: 34,708,865	I296V	probably benign	Het
Gabbr1	T	C	17: 37,048,414		probably benign	Het
Gbp10	T	C	5: 105,219,949		probably null	Het
Ispd	A	G	12: 36,547,919	R350G	probably benign	Het
Itgam	T	A	7: 128,112,472	L753Q	probably damaging	Het
Kbtbd12	A	G	6: 88,613,940	V430A	probably benign	Het
Kdm4a	A	G	4: 118,160,459	V470A	possibly damaging	Het
Larp1b	A	T	3: 40,970,525	T146S	probably benign	Het
Lrrfip2	T	A	9: 111,199,660		probably benign	Het
Mgea5	T	A	19: 45,767,862	E447D	probably benign	Het
Mier2	A	T	10: 79,549,584	C137S	possibly damaging	Het
Morc3	A	G	16: 93,860,567	Y393C	probably damaging	Het
Ms4a7	A	T	19: 11,322,387	M217K	possibly damaging	Het
Msl1	A	G	11: 98,805,365		probably null	Het
Myh2	A	G	11: 67,193,034	E1546G	probably benign	Het
Nlgn2	A	G	11: 69,825,849	L622P	possibly damaging	Het
Olfr1419	A	G	19: 11,870,524	S231P	probably benign	Het
Olfr181	T	C	16: 58,926,566	M2V	probably benign	Het
Olfr339	A	C	2: 36,422,093	K232Q	probably benign	Het
Olfr393	A	G	11: 73,847,472	Y218H	probably damaging	Het
Olfr504	T	A	7: 108,565,136	I220L	possibly damaging	Het
Phf20	C	A	2: 156,276,657	S427*	probably null	Het
Pirt	G	A	11: 66,925,968	S35N	probably damaging	Het
Prss28	C	A	17: 25,310,037	N117K	possibly damaging	Het
Rbbp8nl	A	G	2: 180,283,311	C34R	probably damaging	Het
Rtn3	A	T	19: 7,457,876	D231E	probably damaging	Het
Sema5a	T	C	15: 32,474,368		probably benign	Het
Sh3bp2	T	A	5: 34,556,003	L196Q	probably damaging	Het
Slc26a9	G	T	1: 131,757,518	D325Y	probably damaging	Het
Slc4a1	A	G	11: 102,353,903	V622A	probably benign	Het
Thbd	A	G	2: 148,407,096	V284A	probably benign	Het
Tmc5	T	C	7: 118,652,510	F609L	possibly damaging	Het
Tnr	T	C	1: 159,868,006		probably benign	Het
Ttc17	A	T	2: 94,332,832	Y881*	probably null	Het
Ttn	C	T	2: 76,810,003	D13754N	probably damaging	Het
Vmn2r16	T	A	5: 109,363,896	F656L	probably damaging	Het
Wdr19	A	G	5: 65,225,366	I478V	probably damaging	Het
Zan	T	C	5: 137,380,854		probably benign	Het
Zp2	T	A	7: 120,138,191	D258V	probably damaging	Het

Other mutations in Ttc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Ttc41	APN	10	86736933	missense	possibly damaging	0.71
IGL01373:Ttc41	APN	10	86775957	missense	possibly damaging	0.61
IGL01636:Ttc41	APN	10	86776678	missense	probably benign
IGL01707:Ttc41	APN	10	86776767	missense	probably damaging	1.00
IGL01814:Ttc41	APN	10	86731026	missense	probably damaging	0.98
IGL01918:Ttc41	APN	10	86713190	missense	probably damaging	1.00
IGL02374:Ttc41	APN	10	86775951	missense	probably damaging	1.00
IGL02489:Ttc41	APN	10	86760914	nonsense	probably null
IGL02887:Ttc41	APN	10	86733654	missense	probably damaging	1.00
IGL03061:Ttc41	APN	10	86736857	missense	possibly damaging	0.65
IGL03077:Ttc41	APN	10	86758348	missense	probably damaging	1.00
IGL03210:Ttc41	APN	10	86724414	critical splice donor site	probably null
IGL03242:Ttc41	APN	10	86776819	makesense	probably null
IGL03307:Ttc41	APN	10	86744440	missense	possibly damaging	0.76
BB003:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
BB013:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
R0071:Ttc41	UTSW	10	86736846	missense	probably benign	0.01
R0071:Ttc41	UTSW	10	86736846	missense	probably benign	0.01
R0379:Ttc41	UTSW	10	86712977	missense	possibly damaging	0.65
R0384:Ttc41	UTSW	10	86763947	missense	probably damaging	1.00
R0545:Ttc41	UTSW	10	86759097	missense	probably benign	0.00
R1589:Ttc41	UTSW	10	86776390	missense	probably benign	0.01
R1599:Ttc41	UTSW	10	86776573	missense	probably benign	0.04
R1608:Ttc41	UTSW	10	86775993	missense	probably damaging	1.00
R1670:Ttc41	UTSW	10	86776252	missense	possibly damaging	0.93
R1938:Ttc41	UTSW	10	86776214	missense	probably benign
R2398:Ttc41	UTSW	10	86713386	missense	possibly damaging	0.91
R2401:Ttc41	UTSW	10	86724374	missense	probably benign	0.42
R3117:Ttc41	UTSW	10	86724320	missense	possibly damaging	0.62
R3119:Ttc41	UTSW	10	86724320	missense	possibly damaging	0.62
R4805:Ttc41	UTSW	10	86729798	missense	possibly damaging	0.62
R4840:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4841:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4842:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4884:Ttc41	UTSW	10	86731018	missense	probably benign	0.00
R4885:Ttc41	UTSW	10	86759102	missense	possibly damaging	0.76
R4898:Ttc41	UTSW	10	86776192	missense	possibly damaging	0.80
R5067:Ttc41	UTSW	10	86744544	missense	probably damaging	0.96
R5253:Ttc41	UTSW	10	86730942	missense	probably benign	0.13
R5268:Ttc41	UTSW	10	86744478	missense	possibly damaging	0.76
R5297:Ttc41	UTSW	10	86776579	missense	probably benign	0.04
R5301:Ttc41	UTSW	10	86719520	missense	probably benign	0.00
R5425:Ttc41	UTSW	10	86776630	missense	probably damaging	0.96
R5567:Ttc41	UTSW	10	86760920	critical splice donor site	probably null
R5635:Ttc41	UTSW	10	86736977	missense	probably benign	0.09
R5752:Ttc41	UTSW	10	86758346	missense	probably benign	0.33
R5868:Ttc41	UTSW	10	86750264	missense	possibly damaging	0.70
R5948:Ttc41	UTSW	10	86713224	missense	probably damaging	1.00
R6116:Ttc41	UTSW	10	86759088	critical splice acceptor site	probably null
R6247:Ttc41	UTSW	10	86776663	missense	probably benign	0.00
R6260:Ttc41	UTSW	10	86731159	missense	probably benign	0.20
R6260:Ttc41	UTSW	10	86733707	missense	probably benign	0.32
R6276:Ttc41	UTSW	10	86744449	missense	probably benign	0.01
R6458:Ttc41	UTSW	10	86758270	missense	possibly damaging	0.45
R7170:Ttc41	UTSW	10	86713503	missense	probably benign	0.17
R7348:Ttc41	UTSW	10	86750348	nonsense	probably null
R7382:Ttc41	UTSW	10	86776510	missense	probably damaging	0.97
R7509:Ttc41	UTSW	10	86713432	missense	probably damaging	1.00
R7689:Ttc41	UTSW	10	86759224	missense	probably damaging	1.00
R7807:Ttc41	UTSW	10	86776631	missense	probably benign	0.02
R7926:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
R7998:Ttc41	UTSW	10	86736847	missense	probably benign	0.01
R8021:Ttc41	UTSW	10	86733714	missense	probably benign
R8059:Ttc41	UTSW	10	86712978	missense	probably benign	0.01
R8170:Ttc41	UTSW	10	86776166	missense	probably damaging	1.00
R8303:Ttc41	UTSW	10	86719630	missense	probably benign	0.06
R8375:Ttc41	UTSW	10	86763980	missense	probably damaging	0.97
R8383:Ttc41	UTSW	10	86719526	missense	probably benign	0.00
R8698:Ttc41	UTSW	10	86712977	missense	probably benign	0.00
R8773:Ttc41	UTSW	10	86729815	missense	probably benign	0.35
R8902:Ttc41	UTSW	10	86713001	missense	probably benign	0.06
R8985:Ttc41	UTSW	10	86731092	missense	possibly damaging	0.80
R8988:Ttc41	UTSW	10	86713735	missense	possibly damaging	0.88
R9007:Ttc41	UTSW	10	86733761	missense	probably damaging	1.00
R9137:Ttc41	UTSW	10	86776622	missense	probably benign	0.22
R9236:Ttc41	UTSW	10	86776730	missense	probably damaging	1.00
R9248:Ttc41	UTSW	10	86731249	missense	probably benign	0.00
R9287:Ttc41	UTSW	10	86763966	missense	probably benign	0.43
R9345:Ttc41	UTSW	10	86759225	missense	probably damaging	0.99
R9386:Ttc41	UTSW	10	86713026	missense	probably damaging	0.99
R9500:Ttc41	UTSW	10	86729862	missense	probably benign	0.03
R9570:Ttc41	UTSW	10	86713734	missense	possibly damaging	0.88
R9593:Ttc41	UTSW	10	86713185	missense	probably benign	0.24
X0024:Ttc41	UTSW	10	86724250	missense	probably damaging	1.00
X0064:Ttc41	UTSW	10	86729797	missense	probably benign	0.01

Posted On

2014-05-07