Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Tnn'

569740

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: 0.321) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 160146022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 258 (D258E)

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: D258E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: D258E

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: D258E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: D258E

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

0.5003

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

Allele List at MGI

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

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,277,615	T1788A	unknown	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Adam30	A	T	3: 98,162,321	N490I	probably benign	Het
Ankrd55	A	T	13: 112,355,963	I223F	probably damaging	Het
Ano8	T	A	8: 71,483,011	E321V	probably damaging	Het
Apc2	A	G	10: 80,313,482	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,514	V38E	probably benign	Het
Atp4a	T	C	7: 30,716,730	S417P	possibly damaging	Het
AY358078	A	G	14: 51,826,259	N454S	probably damaging	Het
Cables2	A	G	2: 180,261,657	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Camsap3	G	A	8: 3,587,960		probably null	Het
Ccdc178	A	T	18: 22,017,461	V705E	probably benign	Het
Ccdc47	T	C	11: 106,200,973	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 123,951,220	D307G	probably damaging	Het
Cd3eap	T	C	7: 19,359,148	T36A	probably benign	Het
Cdh23	A	G	10: 60,530,996	I235T	probably benign	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cfap65	T	C	1: 74,921,583	N743D	probably benign	Het
Clec16a	A	G	16: 10,580,963	N329S	probably null	Het
Col25a1	A	G	3: 130,546,357		probably null	Het
Daam1	T	G	12: 71,988,939	D969E	probably benign	Het
Dntt	A	C	19: 41,058,565		probably null	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dst	T	A	1: 34,190,729	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,561,148	T262A	possibly damaging	Het
Exph5	G	A	9: 53,377,009	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,837,247	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fus	T	A	7: 127,981,951		probably null	Het
Galnt9	T	A	5: 110,614,188	N397K	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gga1	A	G	15: 78,891,451	T369A	probably benign	Het
Gp1ba	T	C	11: 70,640,293	I295T	unknown	Het
Hk2	T	C	6: 82,728,892	E810G	probably benign	Het
Igsf10	A	G	3: 59,325,768	V1848A	probably damaging	Het
Insrr	G	A	3: 87,814,316		probably null	Het
Ip6k3	T	A	17: 27,148,530	M231L	probably benign	Het
Itgb8	T	C	12: 119,192,204	N171S	probably benign	Het
Ldlrad3	T	C	2: 102,066,839		probably null	Het
Ltbp1	T	A	17: 75,327,228	C886*	probably null	Het
Mettl13	T	C	1: 162,538,978	D444G	probably benign	Het
Mgea5	G	A	19: 45,767,456	Q583*	probably null	Het
Mns1	A	G	9: 72,448,743	Y224C	probably damaging	Het
Mri1	C	T	8: 84,256,896	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo5c	A	C	9: 75,289,141	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,233,125	Q842H	possibly damaging	Het
Odf3b	T	A	15: 89,378,407	T116S	probably benign	Het
Olfr1167	T	C	2: 88,149,276	T248A	possibly damaging	Het
Olfr301	T	C	7: 86,412,749	L129P	possibly damaging	Het
Olfr31	A	T	14: 14,328,401	T97S	possibly damaging	Het
Olfr761	T	A	17: 37,952,522	R167S	probably benign	Het
Otoa	A	G	7: 121,130,065	T554A	probably benign	Het
Per1	A	G	11: 69,103,182	D438G	probably damaging	Het
Phactr3	G	A	2: 178,334,061	R533H	probably damaging	Het
Phykpl	T	C	11: 51,599,543	F417S	probably damaging	Het
Pole	A	T	5: 110,334,464	T2057S	probably benign	Het
Polq	A	G	16: 37,060,926	T1151A	probably benign	Het
Rbm26	A	T	14: 105,152,540	V216E	possibly damaging	Het
Ryk	T	C	9: 102,898,538	I449T	probably damaging	Het
Sap25	A	G	5: 137,642,673	T225A	probably benign	Het
Sart3	A	G	5: 113,744,667	M864T	probably benign	Het
Sec31b	T	C	19: 44,528,722	S280G	probably benign	Het
Sema4d	A	T	13: 51,723,562	I78N	probably damaging	Het
Sgip1	G	C	4: 102,921,464	R419S	unknown	Het
Slc13a3	T	C	2: 165,430,290	I278V	probably benign	Het
Slc2a5	A	G	4: 150,139,982	D312G	probably benign	Het
Slc39a2	A	T	14: 51,894,203	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,136,354	V148E	probably benign	Het
Syngr2	A	G	11: 117,812,496	E46G	probably damaging	Het
Taok1	A	G	11: 77,579,817	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,678,222	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,589,914	I747T	probably benign	Het
Tmem151b	G	T	17: 45,545,269	P415Q	probably benign	Het
Tmf1	T	C	6: 97,168,100	D659G	possibly damaging	Het
Traj33	A	G	14: 54,185,405	I16V	unknown	Het
Ttll13	G	T	7: 80,257,024	C480F	probably damaging	Het
Ttn	T	C	2: 76,884,071	N8137S	unknown	Het
Vmn1r85	T	C	7: 13,085,146	N24D	probably damaging	Het
Wdr81	T	C	11: 75,444,699	Q649R	probably null	Het
Zan	T	C	5: 137,383,830	T5152A	unknown	Het
Zc3h6	A	G	2: 128,993,190	D82G	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
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
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'- GCATTCTATCAGAATCAGGACCA -3'
(R):5'- TGTGTGACGCGCCCTATGT -3'

Sequencing Primer
(F):5'- GCAGGAGACCCAGGACTTTATTC -3'
(R):5'- CCTATGTGGGGGTCGACTGC -3'

Posted On

2019-09-13