Mutagenetix > Incidental Mutations

Incidental Mutation 'R5452:Tnn'

432552

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

042848-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Is this an essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R5452 (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 160110261 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 965 (T965A)

Ref Sequence

ENSEMBL: ENSMUSP00000115685 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039178
AA Change: T1229A

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: T1229A

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

probably benign
Transcript: ENSMUST00000131919
AA Change: T965A

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: T965A

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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	A	6: 149,329,113	S1219*	probably null	Het
Adam20	A	T	8: 40,795,764	I304F	probably damaging	Het
Adamts5	A	G	16: 85,869,912		probably null	Het
Akr1c6	A	G	13: 4,454,545	R132G	probably benign	Het
Ash1l	T	A	3: 88,984,876	M1354K	possibly damaging	Het
C6	T	C	15: 4,814,829	I911T	possibly damaging	Het
Calm2	T	C	17: 87,435,722		probably null	Het
Ccdc80	G	A	16: 45,118,165	R745Q	probably damaging	Het
Celsr3	T	C	9: 108,844,034	I2685T	possibly damaging	Het
Chkb	T	C	15: 89,429,585		probably benign	Het
Dennd5b	T	A	6: 149,041,513		probably null	Het
Dnah2	T	C	11: 69,524,383	Y175C	probably damaging	Het
Dnajc13	A	G	9: 104,192,114	S1154P	probably benign	Het
Ephb4	T	C	5: 137,361,142	S325P	probably damaging	Het
Fzd9	C	T	5: 135,250,860	R57H	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm9949	A	G	18: 62,180,516		probably benign	Het
Gnb4	A	T	3: 32,589,845	M188K	probably benign	Het
Hr	G	T	14: 70,556,627	G109V	probably damaging	Het
Lrp1b	A	G	2: 40,922,316	S2426P	probably damaging	Het
Map2k4	A	G	11: 65,719,587	W88R	probably damaging	Het
Map4	C	T	9: 110,037,783		probably benign	Het
Moxd2	C	T	6: 40,882,114		probably null	Het
Mrgprx1	T	C	7: 48,021,808	I64V	probably benign	Het
Olfr493	A	C	7: 108,346,105	I292S	probably damaging	Het
Padi2	T	C	4: 140,932,071	F229S	probably benign	Het
Pappa2	T	C	1: 158,838,602	N1136S	probably benign	Het
Pcdhb1	A	T	18: 37,265,758	N254I	possibly damaging	Het
Plcb2	A	G	2: 118,718,246	Y400H	probably damaging	Het
Plce1	A	C	19: 38,620,482	T412P	probably benign	Het
Prg4	T	C	1: 150,455,768		probably benign	Het
Prkdc	A	G	16: 15,768,637	N2510S	possibly damaging	Het
Psme4	T	A	11: 30,791,168	S107T	probably benign	Het
Rint1	G	T	5: 23,794,365	A51S	probably benign	Het
Rsad1	T	A	11: 94,543,689	R306S	probably damaging	Het
Sema3c	T	G	5: 17,717,070		probably null	Het
Sirt3	G	A	7: 140,865,015	T290I	probably damaging	Het
Skiv2l2	T	C	13: 112,913,181	S232G	probably null	Het
Spam1	G	A	6: 24,800,732	G490D	probably benign	Het
Speer4f2	C	T	5: 17,376,500	R147W	possibly damaging	Het
Sppl2c	A	T	11: 104,187,300	I309L	probably benign	Het
Srxn1	G	A	2: 152,105,879	V66M	probably damaging	Het
St3gal4	C	T	9: 35,053,456	R152H	probably damaging	Het
Sv2c	A	T	13: 95,978,083	F532I	probably damaging	Het
Tacc1	C	A	8: 25,164,415	K705N	probably null	Het
Tekt3	G	T	11: 63,094,793	S475I	probably damaging	Het
Tjap1	T	C	17: 46,260,175	T139A	probably damaging	Het
Tnfrsf8	T	A	4: 145,292,644	K207M	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trmt2a	A	G	16: 18,250,950	H270R	probably damaging	Het
Ttc21a	T	C	9: 119,950,971	L448P	probably benign	Het
Ttll4	C	A	1: 74,679,321	N110K	probably benign	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Ubr1	A	G	2: 120,868,302	Y1595H	possibly damaging	Het
Unc45a	G	A	7: 80,329,039	P621S	probably damaging	Het
Xrn2	A	T	2: 147,024,713		probably null	Het
Zcchc6	A	G	13: 59,800,657	Y215H	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	synonymous	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
R2286:Tnn	UTSW	1	160110509	missense	possibly damaging	0.89
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
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
X0019:Tnn	UTSW	1	160086146	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAAAGCACTACCTCAGAAAGAG -3'
(R):5'- TGCGAGCCAACATTGACAGG -3'

Sequencing Primer
(F):5'- AAGTGCTTCACATGCATGCG -3'
(R):5'- ACAGGTACATGGTTCGCTAC -3'

Posted On

2016-10-06