Mutagenetix > Incidental Mutation

Incidental Mutation 'R7382:Ttc41'

572815

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R7382 (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 86776510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1216 (K1216E)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075632] [ENSMUST00000099396]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075632
AA Change: K1216E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: K1216E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 79,067,269	H404Q	probably damaging	Het
Adam8	T	A	7: 139,990,107	T82S	possibly damaging	Het
Adgrl2	T	G	3: 148,817,283	Q435P		Het
Ahr	A	T	12: 35,504,515	M535K	probably damaging	Het
Akap6	A	G	12: 53,142,171	I2123V	probably benign	Het
Ankrd2	G	T	19: 42,044,972	G318C		Het
Ap4e1	T	A	2: 127,008,902		probably null	Het
Atp8a2	G	A	14: 59,654,594	P1102S	probably benign	Het
Cacna2d4	C	T	6: 119,239,087	S105F	probably damaging	Het
Cad	C	A	5: 31,075,829	P1872T	probably benign	Het
Catsperg1	A	G	7: 29,204,844	F251L	probably benign	Het
Ccdc129	G	T	6: 55,978,419	G1004V	probably benign	Het
Ccdc18	C	A	5: 108,139,007	Q136K	probably damaging	Het
Cd163	A	G	6: 124,311,312		probably null	Het
Cd209d	A	T	8: 3,877,965	Y46*	probably null	Het
Cdk5rap2	A	T	4: 70,290,025	M728K	probably benign	Het
Cdon	A	G	9: 35,478,648	D866G	probably damaging	Het
Cenpl	A	G	1: 161,078,461	H135R	probably benign	Het
Clstn2	A	T	9: 97,799,398	L63*	probably null	Het
Cpeb4	A	G	11: 31,872,828	T181A	probably damaging	Het
Dlgap1	A	G	17: 70,787,174	E830G	probably damaging	Het
Endou	T	A	15: 97,718,926	K239*	probably null	Het
Ezh2	T	C	6: 47,551,836	N263S	possibly damaging	Het
Fbxw2	T	C	2: 34,807,302	D351G	probably benign	Het
Fer1l4	A	T	2: 156,020,749	Y1720*	probably null	Het
Fmo9	A	T	1: 166,663,660		probably null	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Frmpd1	T	A	4: 45,278,880	V535E	probably benign	Het
Fxr2	T	C	11: 69,641,556	V139A	probably benign	Het
Gm5538	T	A	3: 59,743,616	M53K	probably benign	Het
Gpr180	T	G	14: 118,162,623	V401G	possibly damaging	Het
Heatr5b	G	T	17: 78,803,507	R971S	possibly damaging	Het
Igkv8-34	C	A	6: 70,044,119	A120S	probably benign	Het
Inpp5b	T	A	4: 124,751,577	H219Q	probably benign	Het
Kremen2	T	C	17: 23,743,552		probably null	Het
Mael	G	A	1: 166,201,598	P419S	probably benign	Het
Map1a	A	G	2: 121,290,785	T102A	probably damaging	Het
Mfsd2a	A	T	4: 122,952,123	I119N	possibly damaging	Het
Muc5b	T	C	7: 141,858,948	V1877A	unknown	Het
Myo5c	A	C	9: 75,304,050	S1733R	probably damaging	Het
Nelfcd	T	C	2: 174,423,383	V248A	probably benign	Het
Npc1	A	T	18: 12,201,706	I663N	probably damaging	Het
Olfr1089	T	C	2: 86,732,785	I276V	probably benign	Het
Olfr346	G	T	2: 36,688,034	E11*	probably null	Het
Olig3	T	A	10: 19,356,665	S13T	unknown	Het
Piezo2	A	C	18: 63,017,519		probably null	Het
Pkd1l2	G	T	8: 117,054,871	L812M	possibly damaging	Het
Plcd1	G	A	9: 119,074,691	T387I	probably damaging	Het
Ppara	C	T	15: 85,787,228	S110L	probably damaging	Het
Ranbp9	C	T	13: 43,425,114	R161Q	probably damaging	Het
Rufy2	G	T	10: 62,997,969	R270L	probably benign	Het
Sept12	C	T	16: 4,988,482	E272K	probably damaging	Het
Sgms1	T	C	19: 32,159,782	E128G	possibly damaging	Het
Sh3bgr	G	A	16: 96,205,893	S21N	probably benign	Het
Sil1	A	T	18: 35,325,413	D176E	probably benign	Het
Slc13a2	A	T	11: 78,404,795	Y82N	probably damaging	Het
Slc41a1	C	T	1: 131,846,632	P479L	probably damaging	Het
Smarca4	A	G	9: 21,658,933	K744R	probably damaging	Het
Stxbp1	T	C	2: 32,798,168	D495G	probably damaging	Het
Sugp2	T	C	8: 70,242,844	S156P	probably benign	Het
Syt3	A	T	7: 44,392,746	D343V	probably damaging	Het
Tbl3	G	T	17: 24,705,291	T164N	probably benign	Het
Tbpl2	A	T	2: 24,087,314		probably null	Het
Tcf7l2	T	A	19: 55,926,740	W461R	unknown	Het
Tmprss11c	A	T	5: 86,231,864	F395Y	probably benign	Het
Tnc	A	T	4: 64,014,043	Y711*	probably null	Het
Tnpo2	G	A	8: 85,050,119	R485H	probably damaging	Het
Ube2q2	A	C	9: 55,163,014	D80A	probably damaging	Het
Ube2u	A	T	4: 100,532,182	K227*	probably null	Het
Uhrf2	T	C	19: 30,071,388	Y265H	possibly damaging	Het
Vmn1r208	T	G	13: 22,772,586	Y247S	probably damaging	Het
Vmn2r27	A	G	6: 124,197,317	C525R	probably damaging	Het
Vps13a	T	C	19: 16,619,485	T3090A	probably damaging	Het
Whrn	T	C	4: 63,418,336	K674R	probably benign	Het
Zfp202	G	T	9: 40,211,505	R521I	probably damaging	Het
Zfp433	T	C	10: 81,720,825	V387A	probably benign	Het
Zpld1	T	C	16: 55,246,683		probably null	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
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'- CACGGTAAACACTGCAATGTG -3'
(R):5'- TGACACGAGTTCCGATATGG -3'

Sequencing Primer
(F):5'- TACGTAGGTTTCAGAGAGTTAAAAGC -3'
(R):5'- GACTTCCAGGGATTGTCCACATTATG -3'

Posted On

2019-09-13