Mutagenetix > Incidental Mutations

Incidental Mutation 'R6116:Ttc41'

485126

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

044265-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to A at 86759088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000075632

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937

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: ENSMUST00000218802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219070

Predicted Effect

probably benign
Transcript: ENSMUST00000219476

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 9,012,963		probably benign	Het
Apc	A	T	18: 34,316,455	I2101F	probably damaging	Het
Bpifa3	G	A	2: 154,133,713	V68I	possibly damaging	Het
Csmd1	T	A	8: 16,211,850	I878F	probably damaging	Het
Cyp2c67	A	T	19: 39,617,435	M339K	probably damaging	Het
Dock3	A	G	9: 106,931,962	Y1321H	probably damaging	Het
Dsc1	G	T	18: 20,097,299	D316E	probably benign	Het
Eno3	C	T	11: 70,661,575	T351M	possibly damaging	Het
Erbb2	T	A	11: 98,427,399	F487Y	probably damaging	Het
Exosc10	T	C	4: 148,573,353	L652P	probably benign	Het
Glmn	A	T	5: 107,557,340	M470K	probably damaging	Het
Gm15446	T	A	5: 109,943,036	C385S	probably damaging	Het
Gm597	G	A	1: 28,778,699	A84V	probably benign	Het
Hspa8	A	G	9: 40,804,975	E581G	probably damaging	Het
Igfn1	T	C	1: 135,970,467	D787G	probably benign	Het
Igkv12-44	T	C	6: 69,814,854	T42A	possibly damaging	Het
Itsn2	T	C	12: 4,629,939		probably benign	Het
Jade2	T	C	11: 51,835,633	E84G	probably damaging	Het
Lpar3	T	A	3: 146,240,597	M10K	possibly damaging	Het
Lpin2	A	G	17: 71,243,930	D695G	probably damaging	Het
Mosmo	T	A	7: 120,726,195	L7H	probably damaging	Het
Ms4a8a	C	T	19: 11,081,072	A9T	unknown	Het
Myb	T	C	10: 21,154,754	D48G	probably damaging	Het
Neurod6	T	C	6: 55,678,791	Y287C	probably damaging	Het
Olfr878	A	G	9: 37,918,659	M1V	probably null	Het
Olfr96	A	G	17: 37,225,568	T148A	probably benign	Het
Olr1	T	A	6: 129,499,984	D106V	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351		probably benign	Het
Plch1	C	T	3: 63,702,023	R912H	probably damaging	Het
Ppfia3	T	C	7: 45,354,703	Y505C	probably damaging	Het
Sdk2	T	A	11: 113,854,364	I702F	probably damaging	Het
Slc16a11	T	C	11: 70,215,436	F119L	probably benign	Het
Slc2a10	A	C	2: 165,517,703	T496P	probably damaging	Het
Slc7a2	T	C	8: 40,900,169	Y181H	probably damaging	Het
Stab2	G	T	10: 86,907,190	P1185Q	probably damaging	Het
Tcf7l2	T	A	19: 55,919,014	S335R	probably damaging	Het
Vmn2r32	A	T	7: 7,464,093	I812N	probably damaging	Het
Wdr24	C	T	17: 25,824,605	H134Y	probably benign	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
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
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'- CTTCAGGTTCACACTGTTGTC -3'
(R):5'- TCAGAAAACAAGAGAAATGTTCATGCT -3'

Sequencing Primer
(F):5'- GACTGACACTTGCATACAGATG -3'
(R):5'- TGCTTACATGAGAACACCTTCAG -3'

Posted On

2017-08-16