Mutagenetix > Incidental Mutations

Incidental Mutation 'R5398:Tnn'

429780

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

042969-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Is this an essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R5398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 160147522 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 112 (M112L)

Ref Sequence

ENSEMBL: ENSMUSP00000115685 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039178
AA Change: M112L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: M112L

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: M112L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: M112L

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

95% (59/62)

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 24,872,579	L34P	possibly damaging	Het
Adam34	A	C	8: 43,651,241	C456G	probably damaging	Het
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Atp8b3	T	C	10: 80,529,699	D407G	probably damaging	Het
Btbd19	G	A	4: 117,123,760	A104V	probably damaging	Het
Chac1	T	G	2: 119,353,244	L109R	possibly damaging	Het
Csf2rb	A	G	15: 78,348,620	D709G	probably benign	Het
Ddx42	T	A	11: 106,224,898	D112E	probably benign	Het
Dnah5	A	G	15: 28,293,726	K1326E	probably benign	Het
Dnajc3	T	A	14: 118,972,387	Y291*	probably null	Het
Dsg2	T	C	18: 20,579,133	F109L	probably benign	Het
Egfl8	T	C	17: 34,614,639		probably benign	Het
Emb	T	A	13: 117,267,552	I280N	probably damaging	Het
Gcc2	C	A	10: 58,269,507	N188K	probably benign	Het
Gdpd4	A	T	7: 97,971,978	H166L	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Itga11	A	G	9: 62,745,923	T360A	probably benign	Het
Kctd1	A	G	18: 15,062,265	S434P	possibly damaging	Het
Kdm5b	G	A	1: 134,622,098		probably null	Het
Kif24	T	C	4: 41,394,401	E824G	possibly damaging	Het
Lekr1	T	A	3: 65,781,386		noncoding transcript	Het
Ociad1	T	A	5: 73,310,412	V231E	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr365	C	A	2: 37,201,318	Q26K	probably benign	Het
Pcdhb1	T	C	18: 37,266,154	L386P	probably damaging	Het
Pcdhb21	G	T	18: 37,515,719	V634L	probably benign	Het
Pcnx2	T	C	8: 125,887,948	K255E	possibly damaging	Het
Pex5l	T	A	3: 32,952,490	I577F	probably damaging	Het
Ppl	A	G	16: 5,104,922	M235T	probably benign	Het
Prl7d1	T	A	13: 27,710,074	I171F	probably damaging	Het
Ptprt	T	C	2: 161,927,592	Y451C	probably damaging	Het
Ranbp17	A	T	11: 33,474,998	Y453N	probably damaging	Het
Rgs16	C	T	1: 153,740,500	T11I	probably benign	Het
Rragb	G	A	X: 153,140,554	G24E	probably damaging	Het
Scn9a	T	C	2: 66,488,043	Y1479C	probably damaging	Het
Slc35f4	T	C	14: 49,298,847	T294A	probably damaging	Het
Slc39a6	A	T	18: 24,597,879	I61N	probably damaging	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Spink12	A	G	18: 44,107,727	D60G	possibly damaging	Het
Sppl2a	T	C	2: 126,919,718	I289V	probably benign	Het
Srebf2	A	G	15: 82,171,242	T176A	probably damaging	Het
Syce1l	T	C	8: 113,652,513	L91S	probably damaging	Het
Tchhl1	T	C	3: 93,471,603	I538T	probably benign	Het
Tcte1	C	T	17: 45,539,826	Q343*	probably null	Het
Tdpoz2	T	G	3: 93,652,134	D177A	probably damaging	Het
Thada	T	G	17: 84,426,186	D1011A	probably benign	Het
Traf1	T	C	2: 34,945,435	E325G	probably damaging	Het
Tyw1	T	C	5: 130,277,157		probably benign	Het
Vmn2r111	C	A	17: 22,573,271	M1I	probably null	Het
Wdr11	C	T	7: 129,631,232	T996M	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
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
X0019:Tnn	UTSW	1	160086146	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGGACATGCACCAAGATC -3'
(R):5'- AGGTCACTGTTAGCCACACC -3'

Sequencing Primer
(F):5'- GATCTCACAGCACCCATGAGG -3'
(R):5'- CAAGATTGACGTGCCCAAGTCTG -3'

Posted On

2016-09-06