Mutagenetix > Incidental Mutations

Incidental Mutation 'R7509:Ttc41'

581967

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 #

R7509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86713432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 163 (E163D)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061458] [ENSMUST00000075632] [ENSMUST00000217747] [ENSMUST00000219108]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061458
AA Change: E163D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
AA Change: E163D

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 damaging
Transcript: ENSMUST00000075632
AA Change: E163D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: E163D

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 damaging
Transcript: ENSMUST00000217747
AA Change: E163D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219108
AA Change: E163D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	A	G	7: 119,534,388	S259G	probably benign	Het
Adamts16	G	T	13: 70,787,164	N436K	probably damaging	Het
Asb3	T	A	11: 30,998,507	M61K	probably benign	Het
Catspere2	A	G	1: 178,077,512	T163A	possibly damaging	Het
Ccser2	A	G	14: 36,938,645	L517P	probably damaging	Het
Cd226	A	G	18: 89,247,071	T158A	probably benign	Het
Chd6	A	T	2: 161,013,154	I778N	probably damaging	Het
Cnga4	T	C	7: 105,406,890	V336A	probably benign	Het
Cpd	C	T	11: 76,797,876	V857I	probably benign	Het
Cpm	A	G	10: 117,659,840	Y78C	probably damaging	Het
Cst7	A	T	2: 150,577,704	T97S	probably benign	Het
Cttnbp2nl	T	C	3: 105,032,730	K8E	possibly damaging	Het
Erbb4	A	T	1: 68,250,580	D767E	possibly damaging	Het
Esyt2	T	C	12: 116,365,876	S685P	probably damaging	Het
Gcfc2	T	C	6: 81,953,275	L641P	probably damaging	Het
Gcnt4	T	A	13: 96,947,170	F325I	probably benign	Het
Glg1	T	G	8: 111,259,043	S52R	probably benign	Het
Gm10577	G	A	4: 101,020,651	L16F	unknown	Het
Gm14326	C	T	2: 177,945,700	G501D	probably benign	Het
Gm1587	G	A	14: 77,797,024	P35S	unknown	Het
Gpd1	G	A	15: 99,722,086	S255N	probably damaging	Het
Grrp1	A	C	4: 134,252,113	V18G	probably damaging	Het
Helb	T	A	10: 120,089,814	H886L	probably damaging	Het
Hgsnat	A	G	8: 25,955,726	V380A	probably damaging	Het
Hmbs	T	A	9: 44,336,911	R125S		Het
Hsd17b4	A	T	18: 50,164,682	Y346F	probably damaging	Het
Inpp4a	T	C	1: 37,387,830	L624P	probably damaging	Het
Irak2	AC	ACC	6: 113,690,898		probably null	Het
Itga11	C	T	9: 62,781,940	T1129I	probably benign	Het
Itih4	G	A	14: 30,895,447	V575I	probably benign	Het
Kcnn2	A	G	18: 45,683,120	T473A	probably benign	Het
Kidins220	T	C	12: 24,982,361	V31A	probably damaging	Het
Lrch1	G	A	14: 74,947,608	T18I	probably benign	Het
Ly6e	T	C	15: 74,958,286	F30L	probably damaging	Het
Med13l	A	G	5: 118,748,930	D1632G	probably damaging	Het
Mei4	T	A	9: 82,025,577	L320Q	probably damaging	Het
Mlip	T	G	9: 77,181,396	T197P	probably damaging	Het
Mon2	G	A	10: 123,032,552	A532V	probably benign	Het
Myh1	C	T	11: 67,210,461	P688S	probably benign	Het
Ncapg	G	A	5: 45,696,108	D900N	probably benign	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Ntn4	A	G	10: 93,710,568	N361S	probably benign	Het
Nudt16l1	T	A	16: 4,939,218	H26Q	probably damaging	Het
Obscn	G	A	11: 59,051,629	T4348I	probably benign	Het
Olfr898	T	A	9: 38,349,572	M157K	probably benign	Het
Olfr960	T	A	9: 39,623,327	I66N	probably damaging	Het
Pcdh7	T	A	5: 57,720,187	D361E	probably damaging	Het
Pcdhb7	C	A	18: 37,342,021	T70K	possibly damaging	Het
Pcdhga3	T	A	18: 37,675,857	Y454*	probably null	Het
Pigc	A	T	1: 161,970,976	T176S	probably benign	Het
Pola2	A	T	19: 5,961,166	S43R	probably benign	Het
Pole	A	T	5: 110,330,705		probably benign	Het
Polq	C	A	16: 37,060,343	D956E	probably benign	Het
Polq	T	A	16: 37,060,344	C957S	probably benign	Het
Ppp3cc	G	A	14: 70,266,682	T107I	probably damaging	Het
Prss39	C	A	1: 34,500,199	H173Q	possibly damaging	Het
Reep4	A	G	14: 70,548,488	D256G	probably benign	Het
Rfc3	A	G	5: 151,647,510	V107A	probably damaging	Het
Slc19a3	A	G	1: 83,026,260	L40P	probably damaging	Het
Slc29a4	C	T	5: 142,718,506	P305L	probably benign	Het
Strada	C	A	11: 106,187,094	V15F	unknown	Het
Suco	A	T	1: 161,845,334	S440T	probably damaging	Het
Svep1	A	T	4: 58,090,683	C1595S	probably benign	Het
Synpo	G	T	18: 60,603,494	T460K	probably damaging	Het
Tagap	A	T	17: 7,928,736	I93F	probably damaging	Het
Tmtc3	A	T	10: 100,466,094	F331Y	probably damaging	Het
Tnpo1	A	C	13: 98,870,243	I225M	probably benign	Het
Tollip	A	T	7: 141,892,141	M70K	probably benign	Het
Trpm7	A	T	2: 126,849,922	I171N	probably damaging	Het
Vmn2r17	A	T	5: 109,427,829	T189S	probably benign	Het
Vmn2r20	C	T	6: 123,385,423	V801I	probably benign	Het
Vmn2r82	G	A	10: 79,396,008	V614I	possibly damaging	Het
Vmn2r96	G	A	17: 18,582,733	E302K	probably benign	Het
Vwf	T	C	6: 125,642,169	F1270S		Het
Wdr3	A	T	3: 100,151,187	F367L	probably benign	Het
Zfp592	A	G	7: 81,038,340	S1005G	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
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'- TACGTGAACAGATGCTTCCCG -3'
(R):5'- ACAGGAAGCCCTTTGCCAATG -3'

Sequencing Primer
(F):5'- GTGAACAGATGCTTCCCGTTTTTC -3'
(R):5'- GGAAGCCCTTTGCCAATGATCTTAG -3'

Posted On

2019-10-17