Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Tnn'

483825

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

044227-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

R6062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 160098278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1383 (D1383V)

Ref Sequence

ENSEMBL: ENSMUSP00000039452 (fasta)

Gene Model

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

AlphaFold

Q80Z71

Predicted Effect

probably damaging
Transcript: ENSMUST00000039178
AA Change: D1383V

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

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: D1383V

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 damaging
Transcript: ENSMUST00000131919
AA Change: D1119V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: D1119V

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

Meta Mutation Damage Score

0.7505

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

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
AI314180	G	T	4: 58,826,453	S1038Y	possibly damaging	Het
Atat1	T	A	17: 35,908,564	Q136L	probably damaging	Het
Atm	A	G	9: 53,488,587	L1531P	probably damaging	Het
Brca2	G	A	5: 150,556,889	R2708H	probably damaging	Het
Cand1	G	A	10: 119,218,010	A141V	possibly damaging	Het
Cdcp2	T	C	4: 107,102,492	S35P	probably damaging	Het
Ces4a	G	A	8: 105,138,174		probably null	Het
Colec10	T	A	15: 54,459,807	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,406,189	D90E	probably damaging	Het
Csmd1	T	C	8: 16,092,305	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 95,457,469	V154A	possibly damaging	Het
Daglb	T	C	5: 143,494,603	I454T	probably benign	Het
Dtna	C	A	18: 23,622,056	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,293,380		probably benign	Het
Eefsec	A	T	6: 88,355,629	S200T	probably benign	Het
Enthd1	T	A	15: 80,452,715	D506V	probably damaging	Het
Erbb2	A	G	11: 98,433,249	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,780,713	C183R	probably damaging	Het
Ginm1	T	A	10: 7,775,333	H103L	probably benign	Het
Golgb1	C	A	16: 36,914,671	Q1427K	possibly damaging	Het
Grb14	G	T	2: 65,022,620	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,937,247	M192K	probably damaging	Het
Herpud2	A	T	9: 25,108,988	D357E	probably damaging	Het
Idi1	A	G	13: 8,887,505	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,498,541	V176A	probably benign	Het
Matn1	T	A	4: 130,951,966	D310E	probably benign	Het
Mbtps1	A	T	8: 119,531,091	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,759,308	D2417G	unknown	Het
Myo7b	T	C	18: 31,967,990	T1551A	possibly damaging	Het
Neb	A	G	2: 52,185,281	M224T	probably benign	Het
Ola1	A	T	2: 73,199,498	D92E	probably damaging	Het
Olfr1019	T	G	2: 85,841,114	I226L	probably benign	Het
Olfr388-ps1	A	C	11: 73,724,560	C155G	unknown	Het
Olfr723	A	T	14: 49,928,662	M294K	probably damaging	Het
Olfr912	T	A	9: 38,539,144	M83K	probably damaging	Het
Otud4	T	C	8: 79,673,896	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,524,751	A165T	probably benign	Het
Prelid2	T	C	18: 41,912,465	I127V	probably benign	Het
Rab35	A	G	5: 115,640,088	I38V	probably damaging	Het
Rab3d	T	C	9: 21,910,519	T209A	probably benign	Het
Rapgef1	A	G	2: 29,700,732	E321G	probably damaging	Het
Rem1	T	C	2: 152,628,097	M1T	probably null	Het
Rgsl1	T	C	1: 153,799,872	K181R	possibly damaging	Het
Scel	C	A	14: 103,585,136	N395K	possibly damaging	Het
Sept9	A	G	11: 117,290,800	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,764,905	M191R	probably benign	Het
Slc22a19	T	C	19: 7,674,282	N520S	probably damaging	Het
Slc28a1	C	T	7: 81,115,563	R9*	probably null	Het
Slc2a7	T	C	4: 150,168,427	V508A	probably benign	Het
Slc8a3	G	A	12: 81,314,350	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,343,406	I455L	possibly damaging	Het
Tmem267	T	C	13: 119,609,231	S141P	probably damaging	Het
Usp9y	G	T	Y: 1,454,199	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,976,259	I30T	possibly damaging	Het
Zfp382	T	C	7: 30,133,590	L222P	probably damaging	Het
Zfp950	T	A	19: 61,120,425	K73N	possibly 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
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
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'- TGGCTCCTTGAAAATGGGAAGC -3'
(R):5'- GGAAGTGTTCCCTGTTAGGTAC -3'

Sequencing Primer
(F):5'- GAAGCTTCCATAAATGCCCTG -3'
(R):5'- GAAGTGTTCCCTGTTAGGTACTATAC -3'

Posted On

2017-07-14