Mutagenetix > Incidental Mutation

Incidental Mutation 'R8303:Ttc41'

639332

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

067715-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R8303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86719630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 317 (T317S)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061458] [ENSMUST00000075632]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061458
AA Change: T317S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
AA Change: T317S

Domain	Start	End	E-Value	Type
low complexity region	216	229	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
Blast:AAA	336	401	9e-8	BLAST
SCOP:d1jpna2	338	370	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075632
AA Change: T317S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: T317S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,165,721	E114G	probably benign	Het
2810021J22Rik	T	A	11: 58,880,140	D149E	probably benign	Het
Aars2	T	C	17: 45,507,597	C103R	probably damaging	Het
Aass	T	C	6: 23,092,368	D591G	probably benign	Het
Arhgap32	A	G	9: 32,260,909	T1662A	probably benign	Het
Arhgap42	A	T	9: 9,009,326	I520N	probably damaging	Het
Arhgef3	T	C	14: 27,394,138	I279T	probably damaging	Het
Arid4b	A	G	13: 14,120,223	K30R	probably damaging	Het
Asxl3	C	T	18: 22,524,416	R1828W	probably benign	Het
Bid	T	C	6: 120,900,239	Y47C	probably benign	Het
Card6	T	C	15: 5,105,365	T119A	probably benign	Het
Cbr1	T	C	16: 93,610,017	I207T	probably damaging	Het
Cep135	T	C	5: 76,611,728	L443P	probably damaging	Het
Cfap43	T	A	19: 47,765,835	R1017*	probably null	Het
Cfap52	T	A	11: 67,939,795	S280C	probably benign	Het
Cntnap5b	T	C	1: 100,141,297	F81L	probably damaging	Het
Cyp4a12a	A	G	4: 115,328,933	D430G	probably damaging	Het
Cyp4f37	G	A	17: 32,634,178		probably null	Het
Dclre1a	A	G	19: 56,542,689	S742P	probably damaging	Het
Ddx54	T	C	5: 120,621,790	F414S	probably damaging	Het
Dsp	A	G	13: 38,197,343	N2688S	probably benign	Het
Elovl4	A	T	9: 83,788,267		probably null	Het
Erbin	A	C	13: 103,830,186		probably null	Het
Fsip2	A	G	2: 82,988,380	D4819G	probably benign	Het
Gapvd1	G	A	2: 34,712,200	P645L	probably damaging	Het
Gbp9	T	C	5: 105,081,305	E492G	possibly damaging	Het
Gpc5	T	A	14: 115,428,255	I497K	probably benign	Het
Hlx	A	G	1: 184,727,708	L411P	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Ice1	A	T	13: 70,606,407	I520N	probably benign	Het
Ist1	T	C	8: 109,683,780		probably null	Het
Itga3	T	C	11: 95,062,640	D292G	probably benign	Het
Kif21a	T	C	15: 90,971,196	N655S	probably damaging	Het
Lrrtm1	A	G	6: 77,244,679	H373R	probably benign	Het
Ngdn	A	T	14: 55,023,145	H270L	probably benign	Het
Nol4	G	A	18: 23,040,174		probably benign	Het
Nxpe5	G	A	5: 138,241,002		probably benign	Het
Olfr1205	G	A	2: 88,831,289	M57I	possibly damaging	Het
Olfr26	A	C	9: 38,855,541	T160P	probably damaging	Het
Olfr347	A	G	2: 36,734,455	I45V	probably damaging	Het
Olfr948	A	C	9: 39,319,393	S74A	probably damaging	Het
Pask	C	A	1: 93,320,564	R1005L	probably benign	Het
Pcm1	A	G	8: 41,283,721	T875A	probably damaging	Het
Pdrg1	A	T	2: 153,009,667	I130N	probably damaging	Het
Plec	A	T	15: 76,189,266	M448K	unknown	Het
R3hdml	T	G	2: 163,499,912	V204G	probably damaging	Het
Rasa4	G	A	5: 136,089,381	V32M	possibly damaging	Het
Scaf8	T	C	17: 3,148,552	V44A	unknown	Het
Smad3	G	T	9: 63,667,478	P177T	probably benign	Het
Smpd4	T	A	16: 17,639,331	F384L	probably damaging	Het
Sycp2l	G	C	13: 41,129,799	L170F	probably damaging	Het
Tas2r107	T	C	6: 131,659,622	S155G	probably benign	Het
Tmem143	T	A	7: 45,916,570	M439K	probably benign	Het
Umps	A	G	16: 33,963,870	V71A	possibly damaging	Het
Usp17lc	G	A	7: 103,418,182	G228D	possibly damaging	Het
Usp17ld	C	T	7: 103,250,816	C303Y	probably damaging	Het
Vmn2r65	C	A	7: 84,940,183	E842*	probably null	Het
Vmn2r94	A	G	17: 18,244,171	F619S	probably damaging	Het
Vps13a	T	C	19: 16,616,906	T3154A	probably benign	Het
Vps13b	C	T	15: 35,639,917	T1311I	probably damaging	Het
Wdr66	T	A	5: 123,322,587	V1204E	probably damaging	Het
Xpot	A	T	10: 121,611,500	Y353*	probably null	Het
Zfp319	A	T	8: 95,329,137	L146Q	probably damaging	Het
Zfp422	T	A	6: 116,626,651	H129L	probably damaging	Het
Zzef1	T	C	11: 72,917,189	F2709L	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
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
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'- TTCCTGGGCACTTAGAAGACTC -3'
(R):5'- TGAGGTGTCTTCCCTCACAG -3'

Sequencing Primer
(F):5'- TGGGCACTTAGAAGACTCACACAG -3'
(R):5'- CTCACAGGGCTTTAGAGGAAGTTATG -3'

Posted On

2020-07-28