Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Tnn'

202337

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

039827-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 160140688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 378 (V378G)

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: V378G

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

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: V378G

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: V378G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: V378G

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,198,459	K200E	possibly damaging	Het
5830473C10Rik	A	T	5: 90,579,601	E359D	probably damaging	Het
Abcc2	A	G	19: 43,814,786	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,833,987	Q1421H	probably damaging	Het
Abcg3	C	T	5: 104,939,164	S534N	possibly damaging	Het
Acp1	A	G	12: 30,896,114		probably null	Het
Adam12	C	A	7: 133,967,861	R295L	probably benign	Het
Alg1	C	A	16: 5,239,143	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,818,833	W410R	possibly damaging	Het
As3mt	A	G	19: 46,724,934	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,322,194	I289V	probably damaging	Het
Cdk17	A	G	10: 93,208,252	I18V	possibly damaging	Het
Cep131	C	T	11: 120,073,736		probably null	Het
Clca3a2	A	G	3: 144,797,637	Y851H	probably benign	Het
Cnih2	T	C	19: 5,094,286	K66E	probably benign	Het
Cpsf3	T	A	12: 21,306,850	N491K	probably benign	Het
Cux1	C	T	5: 136,275,315	E1253K	probably benign	Het
Dcc	A	C	18: 71,367,161	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,012,807	M200K	probably damaging	Het
Ech1	A	G	7: 28,831,863	Y292C	probably damaging	Het
Edc4	G	T	8: 105,891,085	A1121S	probably benign	Het
Eml6	T	A	11: 29,882,041	I210F	probably benign	Het
Fam135b	T	C	15: 71,452,441	T1226A	probably benign	Het
Flg2	C	T	3: 93,200,976	R104C	probably damaging	Het
Frzb	T	C	2: 80,446,528	I105V	possibly damaging	Het
Gli3	A	G	13: 15,713,512	D504G	probably damaging	Het
Gm42669	A	T	5: 107,507,817	K1161*	probably null	Het
Gm6665	T	C	18: 31,820,133	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,309,763	V148A	probably benign	Het
Hoxc5	T	C	15: 103,014,434	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,701,745	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,169	I59F	probably damaging	Het
Iqch	G	A	9: 63,588,377	P111S	possibly damaging	Het
Itih1	G	T	14: 30,929,899	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,322,672	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,814,833	E632D	probably benign	Het
L2hgdh	C	T	12: 69,699,566	M373I	probably benign	Het
Map3k4	C	T	17: 12,264,019	E604K	probably benign	Het
Mok	T	A	12: 110,808,045	Y420F	probably benign	Het
Nedd1	G	A	10: 92,698,739	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,151,333	M174L	probably benign	Het
Olfr806	A	C	10: 129,738,709	I69M	probably benign	Het
Pag1	T	A	3: 9,693,886	T391S	probably benign	Het
Palm3	A	G	8: 84,028,803	R315G	probably benign	Het
Patj	C	T	4: 98,687,438	R1177W	probably damaging	Het
Pbld2	G	A	10: 63,075,124		probably null	Het
Phldb1	A	T	9: 44,716,545	M81K	probably damaging	Het
Pkn2	A	G	3: 142,809,528	F682L	probably damaging	Het
Plce1	T	C	19: 38,758,948		probably null	Het
Plekha8	T	A	6: 54,640,974	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,982	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,598,151	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,293,202	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743	V52A	probably damaging	Het
Rab27b	A	G	18: 69,989,546	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,340,711		probably null	Het
Rasa3	G	A	8: 13,582,372	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,502,808	R499*	probably null	Het
S1pr4	A	G	10: 81,499,190	M150T	probably damaging	Het
Scube2	T	C	7: 109,831,675	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,950,891	K173R	probably benign	Het
Serpina3m	T	A	12: 104,389,515	I147N	probably damaging	Het
Sh3rf3	G	T	10: 59,086,667	G522*	probably null	Het
Smad1	A	T	8: 79,343,844	V355E	probably damaging	Het
Srsf11	A	G	3: 158,019,428	V211A	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stt3a	C	T	9: 36,743,415		probably null	Het
Syne2	T	C	12: 75,963,783	V2488A	probably benign	Het
Tbc1d23	T	C	16: 57,173,100	T568A	possibly damaging	Het
Trim50	T	C	5: 135,353,501	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,047,567	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,388,923	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,134,707	T196A	probably benign	Het
Wdr64	G	A	1: 175,812,019	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,462,575	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298	K216*	probably null	Het
Zfp39	T	C	11: 58,900,660	D67G	probably damaging	Het
Zfp40	A	G	17: 23,175,540	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,625,144	V716A	probably benign	Het
Zfp616	T	A	11: 74,085,279	C791*	probably null	Het
Zfp932	G	A	5: 109,996,623		probably benign	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
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
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'- GGAATCCAGTGTGGTTCCTAAG -3'
(R):5'- TGAAGCCAGCTCTAAGTGTG -3'

Sequencing Primer
(F):5'- TGTGGTTCCTAAGACCCAGGATAC -3'
(R):5'- GCCAGCTCTAAGTGTGTCAAG -3'

Posted On

2014-06-23