Mutagenetix > Incidental Mutation

Incidental Mutation 'R6458:Ttc41'

517447

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

044593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R6458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86758270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 856 (T856A)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075632
AA Change: T856A

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: T856A

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

noncoding transcript
Transcript: ENSMUST00000219070

Predicted Effect

probably benign
Transcript: ENSMUST00000219476

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,804,735	V28A	possibly damaging	Het
Ak1	T	A	2: 32,630,373	M61K	probably damaging	Het
Akap12	T	C	10: 4,355,148	S653P	probably damaging	Het
Anapc4	G	A	5: 52,864,553	R659H	possibly damaging	Het
Arel1	T	C	12: 84,940,385	N86D	possibly damaging	Het
BC005561	A	T	5: 104,522,303	I1564L	probably benign	Het
Bco1	A	G	8: 117,127,506	D390G	possibly damaging	Het
Ccr1l1	A	T	9: 123,978,166	D81E	probably damaging	Het
Chd1	A	T	17: 15,730,602	N185I	probably benign	Het
Clca4b	T	G	3: 144,911,327	N854T	possibly damaging	Het
Col4a4	T	C	1: 82,455,825	T1466A	unknown	Het
Cxcr4	T	C	1: 128,589,094	I277V	probably benign	Het
Dgkq	A	G	5: 108,654,376	V441A	possibly damaging	Het
Dnah10	G	T	5: 124,809,269	L3030F	probably damaging	Het
Epg5	T	A	18: 77,948,254	D55E	probably benign	Het
Ermap	A	T	4: 119,178,140	N550K	probably damaging	Het
Fnbp1l	A	T	3: 122,556,440	I374N	probably damaging	Het
Gadl1	T	A	9: 116,041,002	*479K	probably null	Het
Gm5591	T	A	7: 38,519,035	T805S	probably damaging	Het
H2-T3	A	T	17: 36,187,019	M334K	possibly damaging	Het
Ihh	C	T	1: 74,946,442	A295T	probably damaging	Het
Il18r1	T	A	1: 40,491,182	Y356*	probably null	Het
Lingo3	A	G	10: 80,835,316	V260A	probably damaging	Het
Lrp2	T	G	2: 69,505,156	M1408L	probably benign	Het
Mical1	C	A	10: 41,484,735	H657N	probably benign	Het
Mpp2	T	A	11: 102,080,769	M12L	probably benign	Het
Muc16	A	T	9: 18,641,721	D4425E	probably benign	Het
Muc4	T	A	16: 32,759,320		probably null	Het
Myt1l	T	A	12: 29,895,299	F1021Y	unknown	Het
Nbas	T	C	12: 13,288,749	S197P	probably damaging	Het
Nckap1	T	C	2: 80,512,549		probably null	Het
Nek1	T	G	8: 61,100,012	V903G	probably benign	Het
Olfr1184	T	A	2: 88,487,218	I162N	possibly damaging	Het
Olfr299	A	G	7: 86,465,680	I90V	probably damaging	Het
Olfr377-ps1	T	G	11: 73,388,691	S112R	probably damaging	Het
Olfr889	T	C	9: 38,116,054	V91A	possibly damaging	Het
Ppm1j	T	C	3: 104,781,244	V53A	probably benign	Het
Ralgapb	T	A	2: 158,444,620	D328E	probably damaging	Het
Rgma	T	A	7: 73,409,694	V88E	probably damaging	Het
Slc30a6	A	G	17: 74,423,113	T333A	probably damaging	Het
Spr	T	C	6: 85,137,057		probably null	Het
Srek1	A	T	13: 103,743,568	V494E	probably benign	Het
Ston1	A	T	17: 88,635,303	T46S	probably benign	Het
Stox2	T	C	8: 47,192,044	K858E	possibly damaging	Het
Thoc1	G	A	18: 9,993,333	R564Q	probably benign	Het
Tmc5	T	A	7: 118,645,316	N472K	probably damaging	Het
Ttn	A	T	2: 76,778,510	W17721R	probably damaging	Het
Vmn1r69	A	G	7: 10,580,438	I43T	probably benign	Het
Vmn2r56	T	A	7: 12,694,057	I761F	probably damaging	Het
Zfp109	T	C	7: 24,228,445	D521G	probably benign	Het
Zfp516	A	G	18: 82,987,350	H793R	probably benign	Het
Zfp800	A	T	6: 28,244,216	I250N	probably damaging	Het
Zpbp	T	A	11: 11,408,538	Y243F	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
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
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
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

PCR Primer
(F):5'- TTGCCCAAAATGGACTTGTAGTTTG -3'
(R):5'- GTTGCTCACTGAATCCAGAGGG -3'

Sequencing Primer
(F):5'- GGTGTTTAGTGTGTCATCTAATAACG -3'
(R):5'- TCCAGAGGGGTGGAGCAG -3'

Posted On

2018-05-21