Mutagenetix > Incidental Mutations

Incidental Mutation 'R2286:Tnn'

243294

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

040285-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Is this an essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

R2286 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160110509 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1146 (E1146G)

Ref Sequence

ENSEMBL: ENSMUSP00000039452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039178] [ENSMUST00000131919]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039178
AA Change: E1146G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: E1146G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
coiled coil region	100	132	N/A	INTRINSIC
EGF_like	170	198	3.5e1	SMART
EGF	201	229	2.29e1	SMART
EGF_like	232	260	2.86e1	SMART
FN3	262	341	1.81e-8	SMART
FN3	351	432	1.08e-6	SMART
FN3	443	521	1.19e-8	SMART
FN3	531	608	2.64e-10	SMART
FN3	619	696	1.6e-9	SMART
FN3	707	784	9.04e-9	SMART
FN3	795	872	7.34e-9	SMART
FN3	883	960	9.04e-9	SMART
FN3	971	1048	1.07e-10	SMART
FN3	1059	1136	7.57e-11	SMART
FN3	1147	1224	4.59e-10	SMART
FN3	1235	1312	1.95e-4	SMART
FBG	1327	1539	1.16e-114	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131919
AA Change: E882G

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: E882G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
coiled coil region	100	132	N/A	INTRINSIC
EGF_like	170	198	3.5e1	SMART
EGF	201	229	2.29e1	SMART
EGF_like	232	260	2.86e1	SMART
FN3	262	341	1.81e-8	SMART
FN3	351	432	1.08e-6	SMART
FN3	443	521	1.19e-8	SMART
FN3	531	608	2.64e-10	SMART
FN3	619	696	1.6e-9	SMART
FN3	707	784	9.04e-9	SMART
FN3	795	872	7.57e-11	SMART
FN3	883	960	4.59e-10	SMART
FN3	971	1048	1.95e-4	SMART
FBG	1063	1275	1.16e-114	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	T	5: 8,145,616	R308H	probably damaging	Het
Alox5ap	G	A	5: 149,285,430		probably null	Het
Ap2s1	T	C	7: 16,748,976	V131A	possibly damaging	Het
Cdr2l	GAA	GA	11: 115,392,800		probably null	Het
Cpsf7	T	C	19: 10,535,296	L248P	probably damaging	Het
Dscr3	C	T	16: 94,512,253	E60K	possibly damaging	Het
Dtd1	T	C	2: 144,635,866		probably null	Het
Eci1	A	G	17: 24,433,229	D75G	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Luc7l	A	G	17: 26,280,046		probably benign	Het
Med13	A	C	11: 86,319,689	D542E	probably benign	Het
Myo6	T	C	9: 80,266,212	S545P	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Olfr1281	A	G	2: 111,328,907	I163V	probably benign	Het
Rsad2	T	A	12: 26,450,676	N204I	probably benign	Het
Setd5	T	G	6: 113,119,610	N592K	possibly damaging	Het
Sgip1	G	T	4: 102,867,647	S59I	possibly damaging	Het
Slc39a5	A	G	10: 128,396,060	V532A	probably benign	Het
Smarcc2	G	A	10: 128,463,743	M123I	possibly damaging	Het
Tdrd1	A	G	19: 56,839,119	T185A	probably benign	Het
Unc13a	T	C	8: 71,630,559	K1618E	probably damaging	Het
Vmn2r120	A	G	17: 57,508,958	L799P	probably damaging	Het

Other mutations in Tnn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Tnn	APN	1	160125451	missense	possibly damaging	0.65
IGL00433:Tnn	APN	1	160098206	splice site	probably benign
IGL00858:Tnn	APN	1	160088392	critical splice donor site	probably null
IGL00939:Tnn	APN	1	160147530	missense	probably damaging	1.00
IGL01569:Tnn	APN	1	160120554	missense	possibly damaging	0.51
IGL01591:Tnn	APN	1	160125574	missense	probably damaging	1.00
IGL01628:Tnn	APN	1	160147602	missense	possibly damaging	0.89
IGL01811:Tnn	APN	1	160107135	missense	probably damaging	1.00
IGL01813:Tnn	APN	1	160088438	missense	probably damaging	1.00
IGL02340:Tnn	APN	1	160145205	missense	probably benign	0.00
IGL02488:Tnn	APN	1	160140593	missense	probably benign	0.21
IGL02535:Tnn	APN	1	160122652	splice site	probably null
IGL02563:Tnn	APN	1	160114553	missense	probably damaging	1.00
IGL02572:Tnn	APN	1	160086107	missense	probably damaging	1.00
IGL02740:Tnn	APN	1	160140777	splice site	probably benign
IGL02818:Tnn	APN	1	160116278	missense	possibly damaging	0.86
IGL03284:Tnn	APN	1	160125452	missense	probably benign	0.01
1mM(1):Tnn	UTSW	1	160097341	missense	probably damaging	1.00
PIT4305001:Tnn	UTSW	1	160086077	missense	possibly damaging	0.91
R0023:Tnn	UTSW	1	160104928	missense	probably benign	0.00
R0234:Tnn	UTSW	1	160088466	missense	probably damaging	1.00
R0234:Tnn	UTSW	1	160088466	missense	probably damaging	1.00
R0316:Tnn	UTSW	1	160120567	missense	possibly damaging	0.93
R0492:Tnn	UTSW	1	160120757	missense	probably damaging	0.99
R0547:Tnn	UTSW	1	160116337	intron	probably benign
R1067:Tnn	UTSW	1	160125398	missense	probably damaging	1.00
R1563:Tnn	UTSW	1	160125415	missense	probably damaging	1.00
R1565:Tnn	UTSW	1	160097265	missense	probably damaging	1.00
R1615:Tnn	UTSW	1	160118408	missense	possibly damaging	0.93
R1637:Tnn	UTSW	1	160147600	missense	probably damaging	1.00
R1707:Tnn	UTSW	1	160145144	missense	probably damaging	1.00
R1758:Tnn	UTSW	1	160147584	missense	possibly damaging	0.61
R1797:Tnn	UTSW	1	160140688	missense	probably damaging	1.00
R1847:Tnn	UTSW	1	160116182	missense	possibly damaging	0.51
R1925:Tnn	UTSW	1	160097229	missense	probably damaging	1.00
R2182:Tnn	UTSW	1	160140600	splice site	probably null
R2196:Tnn	UTSW	1	160097228	nonsense	probably null
R2225:Tnn	UTSW	1	160147465	missense	probably damaging	1.00
R2227:Tnn	UTSW	1	160147465	missense	probably damaging	1.00
R2850:Tnn	UTSW	1	160139287	missense	probably benign	0.00
R3110:Tnn	UTSW	1	160116286	missense	possibly damaging	0.71
R3111:Tnn	UTSW	1	160107055	missense	probably damaging	0.98
R3112:Tnn	UTSW	1	160116286	missense	possibly damaging	0.71
R3729:Tnn	UTSW	1	160146240	missense	probably damaging	1.00
R4183:Tnn	UTSW	1	160097355	missense	probably damaging	1.00
R4439:Tnn	UTSW	1	160116080	missense	probably benign
R4441:Tnn	UTSW	1	160116080	missense	probably benign
R4588:Tnn	UTSW	1	160145111	missense	probably benign	0.25
R4646:Tnn	UTSW	1	160146042	missense	probably benign
R4647:Tnn	UTSW	1	160146042	missense	probably benign
R4648:Tnn	UTSW	1	160146042	missense	probably benign
R4701:Tnn	UTSW	1	160147768	missense	possibly damaging	0.72
R4703:Tnn	UTSW	1	160116245	missense	possibly damaging	0.84
R4737:Tnn	UTSW	1	160146089	missense	probably damaging	1.00
R4801:Tnn	UTSW	1	160145033	missense	possibly damaging	0.90
R4802:Tnn	UTSW	1	160145033	missense	possibly damaging	0.90
R4868:Tnn	UTSW	1	160130873	missense	possibly damaging	0.64
R4977:Tnn	UTSW	1	160120618	missense	probably damaging	1.00
R5011:Tnn	UTSW	1	160126379	missense	possibly damaging	0.89
R5026:Tnn	UTSW	1	160146137	missense	probably benign	0.00
R5027:Tnn	UTSW	1	160145211	missense	probably damaging	1.00
R5049:Tnn	UTSW	1	160140738	missense	probably benign	0.00
R5119:Tnn	UTSW	1	160120552	missense	probably damaging	0.98
R5128:Tnn	UTSW	1	160122894	missense	probably damaging	0.98
R5234:Tnn	UTSW	1	160144999	missense	possibly damaging	0.95
R5398:Tnn	UTSW	1	160147522	missense	probably benign	0.00
R5424:Tnn	UTSW	1	160122702	missense	possibly damaging	0.69
R5452:Tnn	UTSW	1	160110261	missense	probably benign	0.13
R5466:Tnn	UTSW	1	160120536	missense	possibly damaging	0.93
R6022:Tnn	UTSW	1	160110358	missense	probably benign	0.00
R6062:Tnn	UTSW	1	160098278	missense	probably damaging	1.00
R6086:Tnn	UTSW	1	160086120	missense	probably damaging	1.00
R6132:Tnn	UTSW	1	160146071	missense	probably damaging	0.96
R6324:Tnn	UTSW	1	160145204	missense	probably damaging	0.96
R6455:Tnn	UTSW	1	160114719	missense	probably damaging	1.00
R6563:Tnn	UTSW	1	160088398	missense	probably damaging	1.00
R6650:Tnn	UTSW	1	160114583	missense	probably damaging	1.00
R6806:Tnn	UTSW	1	160120708	missense	possibly damaging	0.95
R6810:Tnn	UTSW	1	160104842	missense	probably damaging	1.00
R7157:Tnn	UTSW	1	160126377	nonsense	probably null
R7243:Tnn	UTSW	1	160107117	missense	probably benign	0.07
R7340:Tnn	UTSW	1	160146022	missense	probably damaging	0.98
R7472:Tnn	UTSW	1	160110347	missense	probably benign	0.12
R7502:Tnn	UTSW	1	160110359	missense	probably benign	0.00
R7527:Tnn	UTSW	1	160118504	missense	possibly damaging	0.51
R7608:Tnn	UTSW	1	160088414	nonsense	probably null
R7746:Tnn	UTSW	1	160114685	missense	probably damaging	0.97
R8096:Tnn	UTSW	1	160122841	missense	probably damaging	1.00
R8136:Tnn	UTSW	1	160107060	missense	probably damaging	0.96
R8191:Tnn	UTSW	1	160125518	missense	probably damaging	1.00
R8334:Tnn	UTSW	1	160118483	missense	probably damaging	1.00
R8335:Tnn	UTSW	1	160118483	missense	probably damaging	1.00
R8337:Tnn	UTSW	1	160118483	missense	probably damaging	1.00
R8338:Tnn	UTSW	1	160118483	missense	probably damaging	1.00
X0019:Tnn	UTSW	1	160086146	missense	probably damaging	1.00
Z1176:Tnn	UTSW	1	160146293	missense	probably benign
Z1177:Tnn	UTSW	1	160126527	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTCAGGCCTGTCAGGATGG -3'
(R):5'- TCCCTGGAAAATGGACTCTGG -3'

Sequencing Primer
(F):5'- CAGGATGGTGCTACTCTGATCC -3'
(R):5'- TTGCAGGAATGGGCCACTATATC -3'

Posted On

2014-10-16