Mutagenetix > Incidental Mutation

Incidental Mutation 'R1758:Tnn'

195040

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

039790-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R1758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 160147584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 91 (R91H)

Ref Sequence

ENSEMBL: ENSMUSP00000115685 (fasta)

Gene Model

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

AlphaFold

Q80Z71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039178
AA Change: R91H

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: R91H

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: R91H

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: R91H

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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,562,237	R38G	possibly damaging	Het
4930590J08Rik	T	C	6: 91,915,222	V155A	possibly damaging	Het
Adgb	A	G	10: 10,426,605	S406P	probably damaging	Het
Adgrb2	C	A	4: 130,011,875	T893N	probably damaging	Het
Adgrf5	T	C	17: 43,424,593		probably null	Het
Alms1	T	A	6: 85,628,505	I2379N	probably damaging	Het
Arap3	C	T	18: 37,989,912	V512I	probably benign	Het
Atf4	C	T	15: 80,257,213	T268I	probably benign	Het
BC067074	A	G	13: 113,368,732	T2132A	possibly damaging	Het
Ccdc154	T	C	17: 25,163,182	L25P	probably damaging	Het
Ccdc9	G	A	7: 16,276,236	S381F	probably damaging	Het
Cdk17	C	T	10: 93,208,250	T17M	probably damaging	Het
Cep128	T	C	12: 91,347,578	N142S	probably benign	Het
Cep78	A	G	19: 15,959,536	I602T	probably damaging	Het
Clasp1	C	T	1: 118,548,025	T935I	probably damaging	Het
Cnr1	T	C	4: 33,945,000	S463P	probably damaging	Het
Cntnap1	T	A	11: 101,184,623	W876R	probably damaging	Het
Cntnap5c	A	G	17: 58,042,550	D286G	probably damaging	Het
Copa	C	T	1: 172,104,144	R321C	probably damaging	Het
Ctla2a	T	G	13: 60,935,442	E98A	probably damaging	Het
Cux1	A	T	5: 136,392,322	D183E	probably damaging	Het
Cxcl15	A	C	5: 90,801,464	T163P	unknown	Het
Ddias	T	C	7: 92,859,363	N448S	probably benign	Het
Dhx8	T	C	11: 101,766,738	F1152S	probably damaging	Het
Dnah12	C	A	14: 26,766,114	Q992K	probably benign	Het
Eno3	G	T	11: 70,661,425	W301L	possibly damaging	Het
Faap100	A	T	11: 120,377,233	V238E	probably damaging	Het
Fgf4	A	G	7: 144,862,312	S137G	probably benign	Het
Fhod3	A	C	18: 25,120,310	D1439A	possibly damaging	Het
Frem2	A	G	3: 53,653,357	L1243P	probably damaging	Het
Gif	G	A	19: 11,757,815	M266I	probably damaging	Het
Gkn3	T	G	6: 87,388,835	M1L	probably benign	Het
Gm10250	T	C	15: 5,121,027		probably benign	Het
Gm12185	T	C	11: 48,908,032	T545A	possibly damaging	Het
Gm14226	T	A	2: 155,025,458	L445H	probably damaging	Het
Gm3404	A	T	5: 146,526,226	M73L	probably benign	Het
Gm4907	A	G	X: 23,906,751	I164V	probably benign	Het
Gm973	G	T	1: 59,634,010	R976S	unknown	Het
Gpr146	A	T	5: 139,393,382	H313L	probably benign	Het
Gys2	T	A	6: 142,472,706	E32D	probably damaging	Het
Igsf10	G	A	3: 59,329,196	T1188I	probably benign	Het
Igsf9b	A	T	9: 27,334,252	T1172S	possibly damaging	Het
Itga8	T	A	2: 12,265,333	N114I	possibly damaging	Het
Itsn2	T	A	12: 4,658,160	V795E	possibly damaging	Het
Kdm1b	T	A	13: 47,060,768	S197T	probably benign	Het
Kif5c	G	A	2: 49,723,133	R161Q	probably benign	Het
Krt33b	T	C	11: 100,025,535	Y232C	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrp1	A	T	10: 127,588,584	N744K	possibly damaging	Het
Mcm10	C	A	2: 5,004,050	L369F	probably damaging	Het
Muc5ac	T	A	7: 141,801,531	I1018N	possibly damaging	Het
Myom2	T	C	8: 15,065,795	L70P	probably benign	Het
Myt1l	T	A	12: 29,827,242	N297K	unknown	Het
Ncr1	C	T	7: 4,340,808	T98I	probably benign	Het
Nek3	T	C	8: 22,160,262	E78G	probably damaging	Het
Nfatc3	T	A	8: 106,099,136	N606K	probably damaging	Het
Nup107	T	G	10: 117,761,343	D669A	probably damaging	Het
Olfr1113	A	T	2: 87,213,414	Q174L	probably benign	Het
Olfr1264	T	C	2: 90,021,329	T246A	probably benign	Het
Olfr922	A	T	9: 38,815,575	H24L	probably benign	Het
Olfr95	A	T	17: 37,211,313	I180N	possibly damaging	Het
Pcnx	T	C	12: 81,983,484	V1711A	probably benign	Het
Pik3c3	A	G	18: 30,277,010	D99G	probably damaging	Het
Pinx1	C	A	14: 63,919,575	T317K	probably benign	Het
Ppargc1b	G	T	18: 61,298,786		probably null	Het
Pradc1	T	A	6: 85,447,221	I119F	possibly damaging	Het
Psat1	G	T	19: 15,914,879	T242K	probably damaging	Het
Psma6	G	A	12: 55,407,532	C28Y	probably damaging	Het
Pyurf	A	T	6: 57,691,832	C58*	probably null	Het
Rab3gap2	C	A	1: 185,283,884	A1331E	probably benign	Het
Rnase4	T	C	14: 51,105,265	*149Q	probably null	Het
Ruvbl2	T	C	7: 45,425,162	K184R	probably benign	Het
Scn7a	T	G	2: 66,680,183	M1292L	probably benign	Het
Scn7a	A	T	2: 66,700,887	Y549N	probably damaging	Het
Selp	A	G	1: 164,132,285	D370G	possibly damaging	Het
Slc22a15	G	A	3: 101,860,453	Q386*	probably null	Het
Slc22a29	A	G	19: 8,217,762		probably null	Het
Slc26a7	A	C	4: 14,548,491	I266S	possibly damaging	Het
Smpd4	T	C	16: 17,626,008	S112P	probably damaging	Het
Smpd4	T	A	16: 17,640,880	L165Q	probably damaging	Het
Snx33	A	G	9: 56,926,698	I29T	probably benign	Het
Spen	G	A	4: 141,476,375	P1647L	unknown	Het
Strip2	T	C	6: 29,941,941		probably null	Het
Swsap1	C	T	9: 21,955,984	R75*	probably null	Het
Tmem210	C	T	2: 25,288,423	T32I	probably damaging	Het
Tnni1	G	A	1: 135,808,682	R94H	probably damaging	Het
Tnrc6c	T	A	11: 117,760,730	V1693D	probably benign	Het
Trip4	G	A	9: 65,874,977	Q158*	probably null	Het
Ttc39b	T	C	4: 83,237,349	E474G	probably damaging	Het
Usp50	C	A	2: 126,775,862	C221F	probably damaging	Het
Vmn1r171	T	C	7: 23,632,356	I2T	probably benign	Het
Wdr62	T	A	7: 30,267,903	I309F	probably damaging	Het
Xdh	A	T	17: 73,910,209	V688E	probably damaging	Het
Zfyve26	A	G	12: 79,238,944	L2353P	probably damaging	Het
Zgpat	C	A	2: 181,378,840	R269S	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
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
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
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
R8427:Tnn	UTSW	1	160130686	missense	probably damaging	0.99
R8433:Tnn	UTSW	1	160097220	missense	possibly damaging	0.81
R8479:Tnn	UTSW	1	160122827	missense	probably benign	0.06
R8505:Tnn	UTSW	1	160146023	missense	probably damaging	0.98
R8554:Tnn	UTSW	1	160110416	missense	probably damaging	1.00
R8717:Tnn	UTSW	1	160116276	missense	possibly damaging	0.51
R8850:Tnn	UTSW	1	160110244	critical splice donor site	probably null
R8928:Tnn	UTSW	1	160125529	missense	probably damaging	1.00
R9209:Tnn	UTSW	1	160126416	missense	probably benign	0.02
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'- ATACCAGATGGTAGCCTCACCAGC -3'
(R):5'- GTAAGTTCCATTCAGCCAGCCCTC -3'

Sequencing Primer
(F):5'- AGCTTTTTCATCCGGGCT -3'
(R):5'- CTCCAAGAATGGGTCTCTGG -3'

Posted On

2014-05-23