Mutagenetix > Incidental Mutations

Incidental Mutation 'R5067:Ttc41'

388376

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

042657-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86744544 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 785 (S785P)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075632
AA Change: S785P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: S785P

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: ENSMUST00000219476

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	C	12: 112,785,316	N304D	probably benign	Het
Akr7a5	T	C	4: 139,311,022	S90P	probably damaging	Het
Aplnr	T	A	2: 85,136,784	V51E	probably damaging	Het
Arhgap21	A	T	2: 20,880,037	H776Q	probably damaging	Het
Asxl3	C	G	18: 22,525,299	A2122G	possibly damaging	Het
Bsn	T	A	9: 108,111,953	Y2200F	probably damaging	Het
Btbd10	A	T	7: 113,325,836	D268E	probably damaging	Het
Cacna1h	T	C	17: 25,397,808	N113D	probably damaging	Het
Cfap54	T	C	10: 93,066,766	N175D	probably benign	Het
Cfap61	A	G	2: 146,102,036	D134G	probably damaging	Het
Clybl	A	T	14: 122,379,289	I239L	possibly damaging	Het
Defb11	A	T	8: 21,906,336	F15Y	probably damaging	Het
Dlc1	A	G	8: 36,584,493	S695P	probably benign	Het
Dscr3	T	A	16: 94,526,404		probably benign	Het
Fam196a	A	T	7: 134,918,555	V82E	probably benign	Het
Fbxl5	T	C	5: 43,758,772	K432E	probably benign	Het
Fryl	T	C	5: 73,057,755	E2226G	probably benign	Het
Gm10337	T	A	15: 102,503,871		probably null	Het
Gm5828	A	G	1: 16,769,292		noncoding transcript	Het
Gm8674	A	T	13: 49,899,834		noncoding transcript	Het
Ighv6-5	T	C	12: 114,416,571		probably null	Het
Ints14	C	A	9: 64,964,412	L11M	probably damaging	Het
Kcp	G	A	6: 29,492,108	P153L	probably benign	Het
Lrrk2	A	C	15: 91,765,790	N1710T	probably benign	Het
March10	T	A	11: 105,390,107	T451S	possibly damaging	Het
Mcf2l	T	G	8: 12,915,959		probably benign	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Neurod2	T	A	11: 98,327,237	H367L	possibly damaging	Het
Nfatc4	A	T	14: 55,832,418	Q681L	probably damaging	Het
Nkx3-2	T	C	5: 41,761,877	N256S	probably damaging	Het
Ntng1	G	A	3: 110,135,345	T55M	possibly damaging	Het
Snd1	C	A	6: 28,888,240	N891K	probably damaging	Het
Syt7	T	C	19: 10,442,858	V382A	possibly damaging	Het
Trim72	T	C	7: 128,009,967	S314P	possibly damaging	Het
Ube2z	C	T	11: 96,063,009	V128I	probably benign	Het
Wdr43	T	C	17: 71,626,854	Y149H	probably benign	Het
Wnk4	T	A	11: 101,262,856	V248E	probably damaging	Het
Zcchc2	A	T	1: 106,030,964	N1055I	probably damaging	Het
Zdhhc23	T	C	16: 43,973,771	Y180C	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
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
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'- GAGTAACTTCCTTCAGCCATGAG -3'
(R):5'- TCAGCACCATGAAGAGGCAG -3'

Sequencing Primer
(F):5'- GCCATGAGTAACTTACATAATCACG -3'
(R):5'- GAATATAGGCCTAGCGCTAGCC -3'

Posted On

2016-06-06