Mutagenetix > Incidental Mutation

Incidental Mutation 'R6247:Ttc41'

505707

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

044366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R6247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86776663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1267 (V1267L)

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: V1267L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: V1267L

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,158,942	D871G	probably benign	Het
A4galt	G	T	15: 83,227,819	H254Q	probably damaging	Het
AA986860	C	A	1: 130,743,043	T334K	possibly damaging	Het
Abca13	T	C	11: 9,403,874	I3732T	probably benign	Het
Abcf1	C	T	17: 35,961,064	D353N	probably damaging	Het
Adssl1	A	G	12: 112,628,356	H83R	probably damaging	Het
Amer2	C	A	14: 60,378,872	A172E	probably damaging	Het
Ankhd1	A	G	18: 36,654,146	T2300A	probably benign	Het
Ano5	G	A	7: 51,566,131		probably null	Het
Apob	G	A	12: 8,001,801	G1109D	probably damaging	Het
Arhgef26	A	T	3: 62,380,960	N484Y	probably damaging	Het
C6	A	G	15: 4,763,541	D376G	probably damaging	Het
Caml	T	C	13: 55,625,173		probably null	Het
Capn12	T	C	7: 28,888,652	L473S	probably benign	Het
Cdk6	G	A	5: 3,344,553		probably null	Het
Cers5	A	T	15: 99,745,924	C153S	probably benign	Het
Cfap206	T	C	4: 34,692,530	M499V	probably benign	Het
Chd6	A	G	2: 160,950,048	M2463T	probably damaging	Het
Chn1	T	C	2: 73,707,006	E58G	possibly damaging	Het
Clec4a1	T	C	6: 122,928,042	V100A	probably benign	Het
Col7a1	G	C	9: 108,981,062		probably benign	Het
Csmd1	A	G	8: 16,196,235	V1050A	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dennd5a	A	T	7: 109,898,682	C1044S	probably damaging	Het
Dnah7b	A	G	1: 46,225,888	T2181A	probably benign	Het
Dnaic1	T	C	4: 41,605,775	V255A	probably benign	Het
Dync2h1	A	G	9: 7,135,078	C1518R	probably damaging	Het
Dysf	T	C	6: 84,066,999	V273A	probably damaging	Het
Eif1	C	T	11: 100,320,397		probably benign	Het
Eml3	T	C	19: 8,930,949	I58T	probably benign	Het
Fam171b	T	A	2: 83,879,208	I408N	probably damaging	Het
Fchsd2	A	G	7: 101,253,540	E351G	probably benign	Het
Focad	G	A	4: 88,407,140	A81T	possibly damaging	Het
Fpr-rs4	G	A	17: 18,022,486	V252I	probably benign	Het
Fryl	A	G	5: 73,065,481	L1919P	probably damaging	Het
Gm12185	C	T	11: 48,915,908	R152H	probably damaging	Het
Gm14410	C	T	2: 177,193,724	G249E	probably damaging	Het
Gm3854	T	C	7: 6,353,946	C253R	probably damaging	Het
Gm6685	A	T	11: 28,339,706	S37T	possibly damaging	Het
Greb1	G	A	12: 16,716,675	P374L	probably damaging	Het
Hdac4	A	T	1: 92,012,838		probably null	Het
Hecw1	A	T	13: 14,234,425	L1099*	probably null	Het
Hivep1	T	C	13: 42,157,490	S1069P	probably benign	Het
Itgad	T	C	7: 128,185,787	I288T	possibly damaging	Het
Kif9	A	G	9: 110,488,544	M96V	possibly damaging	Het
Kncn	T	A	4: 115,884,790	V18E	probably damaging	Het
Lrrc74a	G	A	12: 86,758,556	G384D	probably damaging	Het
Ltb4r2	T	C	14: 55,762,651	V243A	probably damaging	Het
Mtnr1b	T	A	9: 15,862,786	I326L	probably benign	Het
Mylip	C	T	13: 45,408,481	T253I	probably damaging	Het
Necap1	T	A	6: 122,880,652		probably null	Het
Nedd4	C	T	9: 72,726,438	P409S	probably damaging	Het
Npat	A	T	9: 53,545,238	E36D	probably damaging	Het
Ovch2	C	T	7: 107,785,441	V490M	probably damaging	Het
Pax9	T	C	12: 56,709,695	S273P	probably benign	Het
Plce1	A	G	19: 38,745,845	E1563G	probably damaging	Het
Podxl2	C	A	6: 88,849,317	G336*	probably null	Het
Prdm1	A	G	10: 44,446,786		probably null	Het
Psme4	T	C	11: 30,853,245	I29T	possibly damaging	Het
Ptprd	A	T	4: 76,066,291	D780E	probably benign	Het
Retsat	T	C	6: 72,604,935	M294T	probably benign	Het
Robo2	A	T	16: 73,967,784	V652D	probably damaging	Het
Rptn	C	G	3: 93,398,130	H923Q	possibly damaging	Het
Serpinb3d	G	T	1: 107,082,760	T66K	probably benign	Het
Setd1b	A	T	5: 123,158,398		probably benign	Het
Slc7a10	G	T	7: 35,186,587	A36S	possibly damaging	Het
Sstr3	T	A	15: 78,539,588	I320F	probably damaging	Het
Syne1	G	T	10: 5,349,071	A1005E	probably damaging	Het
Syngap1	C	A	17: 26,962,957	S975*	probably null	Het
Tinagl1	C	T	4: 130,172,932	C124Y	probably null	Het
Tm9sf1	C	T	14: 55,636,370	R557H	probably damaging	Het
Tmed2	T	A	5: 124,546,992	I68K	possibly damaging	Het
Tmem104	A	G	11: 115,243,993	T451A	probably benign	Het
Tmem141	T	C	2: 25,621,681		probably null	Het
Tmem184a	C	A	5: 139,813,072	V41L	probably benign	Het
Tmem39b	C	T	4: 129,686,791	V303I	possibly damaging	Het
Tsn	T	C	1: 118,305,209	I122V	probably benign	Het
Uggt1	A	T	1: 36,163,228	L1096Q	probably damaging	Het
Usp50	A	T	2: 126,775,793	I244N	probably benign	Het
Vil1	A	G	1: 74,432,339	S760G	probably benign	Het
Wasf1	T	A	10: 40,937,745	V541E	unknown	Het
Zc3h13	G	T	14: 75,343,736	S1721I	probably benign	Het
Zfp180	G	T	7: 24,105,105	K316N	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp759	A	G	13: 67,140,460	T692A	probably benign	Het
Zfyve26	A	G	12: 79,282,984	V476A	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
R6116:Ttc41	UTSW	10	86759088	critical splice acceptor site	probably null
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

Predicted Primers

Posted On

2018-02-28