Mutagenetix > Incidental Mutations

Incidental Mutation 'R5567:Ttc41'

436940

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

043124-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 86760920 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: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,955,168	Q374*	probably null	Het
Adam19	A	G	11: 46,136,250	D570G	probably damaging	Het
Aqr	G	A	2: 114,148,970	T328M	probably damaging	Het
Boc	G	A	16: 44,492,824	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,844	T657A	probably damaging	Het
Cep104	T	C	4: 154,002,277	S794P	possibly damaging	Het
Cep72	T	C	13: 74,040,141	Q211R	probably benign	Het
Coq6	T	A	12: 84,368,639	D145E	probably benign	Het
Crym	T	C	7: 120,201,893	E11G	probably benign	Het
Csmd3	A	T	15: 47,645,468	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,886,648	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831	D721E	probably damaging	Het
Defb36	T	A	2: 152,612,583	V54E	probably damaging	Het
Dlg5	C	A	14: 24,192,913	E55*	probably null	Het
Dna2	G	T	10: 62,966,673	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,296,824	K60E	possibly damaging	Het
Eps8l2	G	A	7: 141,355,007	R76Q	possibly damaging	Het
Fbxl18	A	G	5: 142,895,267		probably benign	Het
Flnc	T	A	6: 29,444,045	C619*	probably null	Het
Ftcd	A	G	10: 76,588,133	K503E	probably benign	Het
Gbp2b	C	T	3: 142,611,365	A494V	possibly damaging	Het
Gfral	C	T	9: 76,208,618	A25T	probably benign	Het
Gins2	T	A	8: 120,588,945	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,845,262	I22T	probably damaging	Het
Gm9992	T	C	17: 7,363,803	T456A	probably benign	Het
Golga4	T	A	9: 118,558,183	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,307,215	K176R	probably damaging	Het
Gsto1	T	C	19: 47,857,899	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Gxylt1	A	G	15: 93,254,299		probably null	Het
Hs6st1	C	T	1: 36,103,638	P218L	probably benign	Het
Itpr3	C	T	17: 27,103,906	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,730,199	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,971,169	S228T	probably damaging	Het
Krt1	A	G	15: 101,846,905	F473S	probably benign	Het
Large1	A	G	8: 72,837,453	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,832,659	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,170,596	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,732,024	L505P	possibly damaging	Het
Morn2	A	G	17: 80,297,280	D128G	probably damaging	Het
Msl2	A	G	9: 101,101,737	K437E	possibly damaging	Het
Msr1	T	C	8: 39,611,719	I305V	probably benign	Het
Muc4	A	G	16: 32,777,692	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,841,008	M58T	probably damaging	Het
Myo16	A	G	8: 10,322,676	D125G	probably damaging	Het
Myom2	A	G	8: 15,102,546	Q631R	probably benign	Het
Nlrp1b	T	A	11: 71,181,403	H538L	probably benign	Het
Nme3	T	A	17: 24,896,849		probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Nploc4	C	T	11: 120,384,614	V499M	probably benign	Het
Nub1	A	G	5: 24,708,816	E565G	possibly damaging	Het
Olfr1012	G	A	2: 85,759,650	S242F	probably damaging	Het
Olfr378	C	T	11: 73,425,446	C179Y	probably damaging	Het
Olfr49	A	G	14: 54,282,368	F176L	probably damaging	Het
Olfr859	A	G	9: 19,808,378	D20G	probably damaging	Het
Parl	A	G	16: 20,283,012	M90T	probably damaging	Het
Pelo	T	C	13: 115,089,616	I102V	probably benign	Het
Pigt	T	A	2: 164,501,562	Y319*	probably null	Het
Plb1	A	G	5: 32,364,199	T1465A	unknown	Het
Plxna4	T	C	6: 32,157,980	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,390,541	E133G	probably damaging	Het
Pus7l	G	A	15: 94,527,865	P552S	probably benign	Het
Qsox2	A	G	2: 26,225,218	M1T	probably null	Het
Ralb	C	T	1: 119,483,535	V25I	probably damaging	Het
Rbbp6	A	G	7: 123,001,834		probably benign	Het
Rnf43	A	G	11: 87,727,445	E187G	probably damaging	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Scap	A	G	9: 110,377,644	S386G	probably damaging	Het
Skint10	T	C	4: 112,715,870	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,419,786	T447A	probably benign	Het
Tas1r1	G	A	4: 152,038,325	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,711,372	G186E	probably benign	Het
Tenm4	C	A	7: 96,896,209	Y2477*	probably null	Het
Them7	A	G	2: 105,378,808	T158A	probably benign	Het
Tmcc2	A	C	1: 132,357,805	S608A	probably benign	Het
Ttk	T	A	9: 83,862,535	N593K	possibly damaging	Het
Tulp1	A	G	17: 28,359,198	V289A	possibly damaging	Het
Uhrf1bp1l	T	A	10: 89,808,521	M29K	probably benign	Het
Usp34	A	C	11: 23,488,336	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,921,529	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,712,074	A81V	probably damaging	Het
Xpc	T	A	6: 91,498,135	N636I	probably damaging	Het
Zfp563	A	T	17: 33,089,457		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
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'- TCCATGCCTGGTAAACCACAG -3'
(R):5'- TGGGTCCAGAGTTTTCAGAAGG -3'

Sequencing Primer
(F):5'- CTGGTAAACCACAGGCCTG -3'
(R):5'- GCTTTGTAGTAGATGCCCTGACAAAC -3'

Posted On

2016-10-24