Mutagenetix > Incidental Mutations

Incidental Mutation 'R5424:Tnn'

426735

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

042990-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Is this an essential gene?

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

Stock #

R5424 (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 160122702 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 778 (Q778L)

Ref Sequence

ENSEMBL: ENSMUSP00000039452 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039178
AA Change: Q778L

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: Q778L

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: Q778L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: Q778L

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

0.1376

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

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

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,742,941	A300D	probably damaging	Het
Abca14	T	C	7: 120,211,554	Y119H	probably benign	Het
Actb	A	G	5: 142,905,551		probably benign	Het
Ada	T	A	2: 163,728,125	K323*	probably null	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Aire	A	T	10: 78,036,719	V355E	probably damaging	Het
Atp8a1	T	C	5: 67,812,100	I117M	probably damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Clca2	A	G	3: 145,084,181	F465L	probably damaging	Het
Cpne8	T	A	15: 90,516,057	M345L	probably benign	Het
Ddx54	T	C	5: 120,619,861		probably null	Het
Dnah14	T	G	1: 181,763,310	M3256R	possibly damaging	Het
Epha2	T	A	4: 141,318,940	Y483*	probably null	Het
Ermard	T	A	17: 15,059,770	S509T	possibly damaging	Het
Fam186a	G	T	15: 99,945,763	H867N	unknown	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gas8	C	A	8: 123,526,512	L200I	possibly damaging	Het
Gfra2	A	T	14: 70,895,847	D39V	probably damaging	Het
Gm10770	T	C	2: 150,179,028	T190A	probably benign	Het
Gm2617	T	C	19: 9,323,956		noncoding transcript	Het
Gm5592	C	T	7: 41,155,593		probably benign	Het
Gmppb	T	A	9: 108,052,005		probably null	Het
Ifit2	T	A	19: 34,574,058	C333S	probably benign	Het
Ighg2b	T	C	12: 113,307,930	K1R	unknown	Het
Impdh2-ps	G	T	8: 100,031,509		noncoding transcript	Het
Kdelr2	A	C	5: 143,418,144	E96A	probably benign	Het
Lama2	G	A	10: 26,984,396	R3032C	probably damaging	Het
Lipg	T	A	18: 74,954,253	I166F	probably damaging	Het
Lrrc8b	T	C	5: 105,480,703	V305A	probably damaging	Het
Marveld2	T	C	13: 100,612,187	H128R	probably benign	Het
Mgat4a	A	G	1: 37,466,555	V189A	probably benign	Het
Mroh2b	A	T	15: 4,941,612	E1033V	probably damaging	Het
Mtmr7	A	G	8: 40,606,830	V80A	probably benign	Het
Ndrg2	A	G	14: 51,908,885	S153P	probably damaging	Het
Nelfa	C	T	5: 33,921,845		probably null	Het
Nes	G	T	3: 87,978,824	E1419D	possibly damaging	Het
Nipa1	C	A	7: 55,979,475	V297L	possibly damaging	Het
Obox5	T	A	7: 15,758,882	I254K	probably benign	Het
Olfr1058	G	A	2: 86,385,840	Q193*	probably null	Het
Olfr689	T	C	7: 105,314,571	V189A	possibly damaging	Het
Pcdhga7	G	A	18: 37,715,335	A132T	probably benign	Het
Pla1a	T	A	16: 38,414,775	I186F	probably damaging	Het
Plscr4	T	A	9: 92,490,022	M282K	possibly damaging	Het
Rpl22l1	T	C	3: 28,806,898		probably benign	Het
Scn5a	T	C	9: 119,501,734	D1246G	probably damaging	Het
Senp7	A	G	16: 56,186,108	S932G	possibly damaging	Het
Slc51a	C	A	16: 32,478,747	A111S	probably benign	Het
Srcin1	T	A	11: 97,537,059	K236*	probably null	Het
Tbxas1	A	G	6: 39,027,905	D362G	possibly damaging	Het
Tcl1b5	T	C	12: 105,180,016	I116T	possibly damaging	Het
Tgm7	T	A	2: 121,099,041	M251L	probably damaging	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Zfp622	T	C	15: 25,984,769	C74R	probably damaging	Het
Zfp646	C	A	7: 127,882,703	H1351N	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	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
R5398:Tnn	UTSW	1	160147522	missense	probably benign	0.00
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'- TGAAAGACCAAAGCATGAGTCC -3'
(R):5'- ACTCTTAGTGTCTCCTGGGACC -3'

Sequencing Primer
(F):5'- GACCAAAGCATGAGTCCATATTTC -3'
(R):5'- ACCCAGTGGAGGCTGACATTG -3'

Posted On

2016-09-01