Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) 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
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