Mutagenetix > Incidental Mutation

Incidental Mutation 'R7472:Tnn'

581253

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Essential gene?

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

Stock #

R7472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 160110347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1200 (T1200I)

Ref Sequence

ENSEMBL: ENSMUSP00000039452 (fasta)

Gene Model

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

AlphaFold

Q80Z71

Predicted Effect

probably benign
Transcript: ENSMUST00000039178
AA Change: T1200I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: T1200I

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: T936I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: T936I

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

0.2434

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (99/100)

Allele List at MGI

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

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,540,408	I78T	probably benign	Het
4921524J17Rik	G	A	8: 85,432,809		probably benign	Het
4932415D10Rik	T	C	10: 82,283,587	I4530V	probably benign	Het
4932438H23Rik	T	C	16: 91,055,856	T131A	probably benign	Het
Acbd6	G	T	1: 155,587,467	E138*	probably null	Het
Ago3	A	G	4: 126,345,517	V847A	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Als2cl	C	A	9: 110,898,106	H913Q	probably benign	Het
Atf6	A	C	1: 170,815,491	S360R	possibly damaging	Het
Atm	G	C	9: 53,448,125	N2789K	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Bpifa6	A	T	2: 153,989,329	I272F	possibly damaging	Het
Cabin1	G	T	10: 75,658,647	P1633T	probably damaging	Het
Camsap2	A	G	1: 136,281,393	V119A	probably damaging	Het
Ccdc40	A	G	11: 119,263,148	E1082G	probably benign	Het
Cchcr1	C	A	17: 35,528,351	A479D	probably damaging	Het
Chpt1	C	T	10: 88,476,368	V349I	probably benign	Het
Cldn13	A	T	5: 134,915,121	I70K	probably damaging	Het
Col6a6	T	A	9: 105,782,423	D441V	probably damaging	Het
Cpne5	G	T	17: 29,204,740	T138K	probably benign	Het
Creb3l3	A	T	10: 81,089,467		probably null	Het
Cst10	C	T	2: 149,405,576	L71F	probably benign	Het
Ctsb	T	C	14: 63,138,101	V172A	probably benign	Het
Cyp19a1	A	G	9: 54,166,993	Y426H	possibly damaging	Het
Cyth4	T	C	15: 78,605,894	F72S	probably damaging	Het
D430041D05Rik	G	T	2: 104,410,139	Q9K	unknown	Het
Dnah1	T	A	14: 31,261,590	I4099F	probably damaging	Het
Dnah1	T	A	14: 31,300,791	I1130F	possibly damaging	Het
Dnah12	A	G	14: 26,856,635	K3117R	probably benign	Het
Dpf3	A	T	12: 83,272,385	S275R	probably benign	Het
Dst	A	G	1: 34,218,497	N2450S	probably benign	Het
Dync1h1	C	T	12: 110,665,675	R4460W	probably damaging	Het
Ecm1	A	C	3: 95,735,320	C414G	possibly damaging	Het
Eef2	G	A	10: 81,179,550	D302N	probably benign	Het
Egf	T	C	3: 129,686,263	D1038G	possibly damaging	Het
Epm2aip1	T	C	9: 111,272,399	S147P	probably damaging	Het
Esam	C	A	9: 37,537,567	P324T	possibly damaging	Het
Fam160b1	A	G	19: 57,368,585	Y36C	probably damaging	Het
Fbxo36	A	G	1: 84,896,580	D99G	probably damaging	Het
Fhad1	G	A	4: 141,964,626	R400C	probably benign	Het
Fndc3b	T	C	3: 27,461,744	T638A	probably benign	Het
Gba2	T	C	4: 43,568,967	T563A	probably benign	Het
Gm11237	G	A	4: 73,624,499	G79S	probably damaging	Het
Gm156	A	T	6: 129,775,382	F57I	probably benign	Het
Gm8180	T	A	14: 43,783,637	N38I	possibly damaging	Het
Hs3st4	A	G	7: 124,397,026	E305G	probably damaging	Het
Ireb2	T	A	9: 54,884,054	F191I	probably benign	Het
Irx3	T	G	8: 91,799,997	T360P	probably benign	Het
Itpr1	T	A	6: 108,403,396	I1375N	probably benign	Het
Lama4	A	T	10: 39,087,373	I1314F	possibly damaging	Het
Lamb2	C	A	9: 108,486,148	A842D	probably benign	Het
Ldlrap1	A	G	4: 134,758,996	Y51H	possibly damaging	Het
Leo1	A	G	9: 75,448,341	D321G	probably damaging	Het
Lrrc14b	A	G	13: 74,363,107	S285P	probably damaging	Het
Macf1	A	G	4: 123,433,067	V4881A	probably benign	Het
Mfsd2b	A	T	12: 4,866,481	F333I	probably damaging	Het
Micall1	T	C	15: 79,122,560	S196P	unknown	Het
Mrps21	T	C	3: 95,862,798	N73S	probably benign	Het
Msln	C	T	17: 25,750,734	V341M	possibly damaging	Het
Mybpc3	A	T	2: 91,131,656	M840L	probably damaging	Het
Myo7a	A	C	7: 98,064,793	F1613V	probably damaging	Het
Naprt	C	T	15: 75,891,758		probably null	Het
Nbr1	T	C	11: 101,571,939	V572A	probably damaging	Het
Nfkbie	A	T	17: 45,559,307	T193S	probably damaging	Het
Nlrp14	T	G	7: 107,190,044	N672K	probably benign	Het
Olfr1453	T	C	19: 13,028,075	T85A	probably benign	Het
Olfr32	A	G	2: 90,138,324	Y272H	probably damaging	Het
Olfr323	A	T	11: 58,625,434	I204N	probably damaging	Het
Olfr427	A	T	1: 174,099,733	I92F	probably damaging	Het
Olfr597	A	G	7: 103,320,449	T13A		Het
Olfr913	A	T	9: 38,594,904	I228L	probably benign	Het
Oscar	T	C	7: 3,611,150	T197A	possibly damaging	Het
P3h3	C	A	6: 124,850,631	A481S	possibly damaging	Het
Pcdh8	T	C	14: 79,771,251		probably null	Het
Pcsk9	A	T	4: 106,458,897	H116Q	probably benign	Het
Ptcd1	A	G	5: 145,154,730	F520L	possibly damaging	Het
Rapgef2	T	C	3: 79,069,273	T1261A	probably benign	Het
Ribc2	T	A	15: 85,135,245	M76K	probably benign	Het
Sin3b	A	G	8: 72,753,225	E853G	probably damaging	Het
Slit2	A	G	5: 48,256,838	D940G	probably damaging	Het
Smarcb1	T	A	10: 75,897,539	N342Y	probably damaging	Het
Smurf2	A	T	11: 106,836,095	I469N	probably damaging	Het
Spta1	T	C	1: 174,246,499	Y2335H	probably damaging	Het
Suz12	C	T	11: 80,024,975	R425C	probably benign	Het
Synpo	G	A	18: 60,629,823	A4V	probably benign	Het
Tet1	A	C	10: 62,813,350	S157A	possibly damaging	Het
Themis	A	G	10: 28,761,419	E173G	possibly damaging	Het
Timmdc1	A	T	16: 38,505,418	L197*	probably null	Het
Tmem63c	T	C	12: 87,069,158	F191S	possibly damaging	Het
Traf6	A	G	2: 101,697,192	H429R	probably benign	Het
Trem3	T	C	17: 48,249,845	S115P	probably benign	Het
Trip11	A	T	12: 101,885,380	N808K	probably benign	Het
Trub2	A	T	2: 29,783,373	V106E	probably damaging	Het
Ugcg	A	G	4: 59,217,156	I227V	probably benign	Het
Vat1l	G	A	8: 114,236,799		probably null	Het
Vmn1r184	T	C	7: 26,267,399	M190T	possibly damaging	Het
Vmn2r3	T	C	3: 64,275,532	T249A	probably benign	Het
Zfp729b	A	C	13: 67,593,883	S88A	probably benign	Het
Zfp995	T	C	17: 21,880,200	Y351C	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
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
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'- TGGAGAACCACTTTGGAAAACATC -3'
(R):5'- TCCATGGTTCTAAACTCAGCC -3'

Sequencing Primer
(F):5'- GAACCACTTTGGAAAACATCTTCAG -3'
(R):5'- ATGGTTCTAAACTCAGCCTTTTC -3'

Posted On

2019-10-17