Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Tnn'

519516

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: 0.348) question?

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 160114719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 806 (V806M)

Ref Sequence

ENSEMBL: ENSMUSP00000115685 (fasta)

Gene Model

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

AlphaFold

Q80Z71

Predicted Effect

probably damaging
Transcript: ENSMUST00000039178
AA Change: V1070M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: V1070M

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: V806M

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

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: V806M

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

Allele List at MGI

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

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110F15Rik	T	A	9: 35,844,055	K3*	probably null	Het
A430078G23Rik	A	T	8: 3,388,753	Y370F	probably benign	Het
Abca1	T	C	4: 53,042,376	R1899G	probably damaging	Het
Abca6	C	T	11: 110,241,581	G296D	probably damaging	Het
Abcb5	A	T	12: 118,890,549		probably null	Het
Adam28	T	G	14: 68,633,208	T339P	probably damaging	Het
Adcy10	C	G	1: 165,518,374	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,252,914		probably null	Het
Alms1	T	A	6: 85,696,657	I3078N	probably damaging	Het
Amtn	A	T	5: 88,380,280	N71Y	probably damaging	Het
Arid4a	T	C	12: 71,075,088	S748P	probably benign	Het
Atp2b1	C	A	10: 99,016,980	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,949	D123G	probably benign	Het
Capn15	A	G	17: 25,965,436	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,739,412	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 128,832,610	V1174M	probably damaging	Het
Cd22	T	A	7: 30,876,153	I155F	probably damaging	Het
Ceacam3	T	C	7: 17,161,938	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,566,836	D370N	possibly damaging	Het
Diexf	G	T	1: 193,128,376	D106E	probably benign	Het
Dlg2	C	A	7: 92,444,508		probably null	Het
Dll4	A	T	2: 119,333,795		probably null	Het
Eif5b	T	C	1: 38,019,027	S137P	probably benign	Het
Epn2	A	T	11: 61,533,641	M250K	probably damaging	Het
Fat2	T	A	11: 55,270,457	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,556,814	S341F	probably benign	Het
Gm15922	T	A	7: 3,738,931	Y150F	probably benign	Het
Gm5141	A	T	13: 62,774,783	C191S	probably damaging	Het
Gm5150	C	T	3: 15,990,651	G137S	probably damaging	Het
Gm5346	T	A	8: 43,626,152	H345L	probably damaging	Het
Gpr75	C	T	11: 30,891,529	R145W	probably damaging	Het
Heatr5b	G	A	17: 78,753,073	H2058Y	probably benign	Het
Ina	G	A	19: 47,023,561	E473K	probably benign	Het
Irx6	T	C	8: 92,676,072	S22P	probably benign	Het
Itpr1	T	A	6: 108,417,972	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,226,016	S1383T	probably benign	Het
Lclat1	T	A	17: 73,161,833	S3T	probably damaging	Het
Llgl1	G	A	11: 60,709,660	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239	R708G	probably benign	Het
Mphosph8	T	C	14: 56,688,486	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,464,145	N254Y	probably damaging	Het
Myo7a	C	T	7: 98,073,167	V1184M	probably benign	Het
Myog	G	A	1: 134,290,488	D145N	probably benign	Het
Nat10	T	A	2: 103,739,886	I371F	possibly damaging	Het
Neb	A	T	2: 52,167,644	Y229*	probably null	Het
Nlrp6	T	A	7: 140,927,509	I896K	possibly damaging	Het
Olfr235	T	C	19: 12,268,706	S159P	probably damaging	Het
Olfr551	G	A	7: 102,588,671	A24V	probably benign	Het
Olfr740	A	T	14: 50,453,585	I178L	possibly damaging	Het
Pcdhgc5	A	C	18: 37,821,248	E525A	probably damaging	Het
Pkd2	C	A	5: 104,459,924	D96E	probably benign	Het
Prtg	A	G	9: 72,907,856	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,541,284	M981T	probably benign	Het
Rc3h2	C	A	2: 37,409,470	A183S	probably damaging	Het
Rorb	A	T	19: 18,960,492	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,141,189	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,495,205	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,918,947	I109F	probably damaging	Het
Spen	G	A	4: 141,475,509	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,482,513	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,711,663	W89*	probably null	Het
Tbxas1	T	A	6: 38,952,145		probably benign	Het
Tia1	T	A	6: 86,420,378	I111N	probably damaging	Het
Tlr9	T	A	9: 106,223,999	L163H	probably damaging	Het
Traf5	G	A	1: 191,999,926	A318V	probably benign	Het
Ttc3	T	A	16: 94,418,623	M1K	probably null	Het
Vmn1r192	T	A	13: 22,187,830	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,748,404	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,683,583	N372Y	probably damaging	Het
Wbp2	A	T	11: 116,079,753	S229R	probably damaging	Het
Wdr18	C	T	10: 79,965,281	T176I	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
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'- ACTTGGACCGTGTACTCCAC -3'
(R):5'- CTGCACTCTGAGCCTCTTAATG -3'

Sequencing Primer
(F):5'- GTACTCCACACCCGGTCTCAG -3'
(R):5'- GTGTTTACACATAGGCACACATAGG -3'

Posted On

2018-05-24