Mutagenetix > Incidental Mutations

Incidental Mutation 'BB013:Ttc41'

642765

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

BB013

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86776047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1093 (E1093G)

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: E1093G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: E1093G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
BC016579	C	A	16: 45,629,462	D198Y	probably damaging	Het
Cep170	A	G	1: 176,761,413	S549P	probably damaging	Het
Cnih3	T	C	1: 181,450,001	L96P	probably damaging	Het
Cnn2	T	A	10: 79,993,326	L168Q	probably damaging	Het
Cnot1	ACG	A	8: 95,745,647		probably null	Het
Cnot10	A	G	9: 114,617,815	C398R	probably damaging	Het
Dcaf4	C	A	12: 83,533,929	Y212*	probably null	Het
Dmxl2	T	C	9: 54,428,042	T665A	probably benign	Het
Dnmt1	C	A	9: 20,907,559	A1609S	unknown	Het
Dzip1	T	C	14: 118,883,499	D682G	probably benign	Het
Fam76a	A	G	4: 132,902,094	L249P	probably damaging	Het
Fgf10	T	C	13: 118,789,216	M177T	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Gm340	T	C	19: 41,582,569	F67S	probably benign	Het
Itln1	G	A	1: 171,531,693	T73I	probably benign	Het
Jkamp	T	C	12: 72,094,816	Y197H	probably damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lmf2	G	A	15: 89,352,421	P514L	probably damaging	Het
Lmntd2	G	T	7: 141,210,345	P610Q	probably damaging	Het
Map3k3	T	C	11: 106,145,722	S225P	probably damaging	Het
Mbd5	T	C	2: 49,256,323	Y182H	probably damaging	Het
Mki67	A	G	7: 135,697,140	V2055A	possibly damaging	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Myh8	C	T	11: 67,278,906	P17L	possibly damaging	Het
Myt1l	T	A	12: 29,811,652	D144E	unknown	Het
Nfatc1	T	C	18: 80,697,666	Y373C	probably damaging	Het
Pacs2	C	T	12: 113,060,752	L418F	probably damaging	Het
Paxip1	A	G	5: 27,791,209	I24T	unknown	Het
Pdcl	C	T	2: 37,352,237	G167E	probably damaging	Het
Pdcl	A	C	2: 37,352,239	S166R	probably damaging	Het
Qsox1	C	T	1: 155,812,787	G5S	unknown	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Sass6	T	A	3: 116,628,770	S641T	possibly damaging	Het
Six1	T	C	12: 73,043,809	N194S	probably benign	Het
Tagap	T	C	17: 7,926,938		probably null	Het
Tiparp	T	C	3: 65,553,525	V645A	possibly damaging	Het
Tm2d2	T	C	8: 25,020,464	V113A	probably damaging	Het
Tmprss6	C	A	15: 78,452,850	R352L	probably benign	Het
Tslp	A	G	18: 32,817,193	E105G	possibly damaging	Het
Ush2a	G	A	1: 188,728,600	R2686H	probably benign	Het
Usp54	A	T	14: 20,576,968	Y541N	probably damaging	Het
Vmn2r125	A	G	4: 156,350,693	D122G	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
IGL01845:Ttc41	APN	10	86776624	missense	probably benign	0.03
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
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
X0024:Ttc41	UTSW	10	86724250	missense	probably damaging	1.00
X0064:Ttc41	UTSW	10	86729797	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTCTGATGCTGGCCTTATAAATC -3'
(R):5'- GCCATTCCTAGAACCGTTAGG -3'

Sequencing Primer
(F):5'- TGCTGGCCTTATAAATCTTTTACATG -3'
(R):5'- CCATTCCTAGAACCGTTAGGGAATAG -3'

Posted On

2020-08-01