Mutagenetix > Incidental Mutation

Incidental Mutation 'R8554:Tnn'

659999

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

068517-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R8554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160110416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 913 (Y913C)

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: Y1177C

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

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: Y1177C

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: Y913C

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

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: Y913C

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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
2010111I01Rik	T	A	13: 63,296,897	Y94N	possibly damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Apc	T	C	18: 34,312,946	V947A	probably damaging	Het
Apob	A	C	12: 7,987,830	K334N	probably damaging	Het
BC048403	T	A	10: 121,740,055	I27N	probably benign	Het
Camk2d	A	T	3: 126,770,799	Q119L	possibly damaging	Het
Ccdc60	A	T	5: 116,190,112	F98I	probably damaging	Het
Cd47	A	G	16: 49,867,941	T22A	probably benign	Het
Crat	A	G	2: 30,410,023	V115A	probably benign	Het
Csmd3	T	C	15: 47,644,142	M2992V	probably benign	Het
Dsg4	T	A	18: 20,453,043	N263K	probably damaging	Het
Eln	A	C	5: 134,710,110		probably benign	Het
Ep300	A	G	15: 81,639,027	E1284G	unknown	Het
Fam193a	T	A	5: 34,475,771	M122K	probably benign	Het
Fam46a	T	C	9: 85,326,731	D13G	possibly damaging	Het
Fam57a	A	G	11: 76,205,418	H124R	probably damaging	Het
Fcgr1	A	T	3: 96,292,472	W40R	probably damaging	Het
Gm3486	T	A	14: 41,487,162	Q84L	probably damaging	Het
Gm9513	A	G	9: 36,476,492	I25V	probably benign	Het
Golga2	G	A	2: 32,293,345	D80N	probably damaging	Het
Isg20	T	C	7: 78,916,677	Y125H	probably benign	Het
Kdf1	A	G	4: 133,528,877	I302V	probably damaging	Het
Krt33a	T	A	11: 100,012,383	T278S	possibly damaging	Het
Lrp1b	T	A	2: 41,344,483	Q1038L	probably benign	Het
March6	G	A	15: 31,482,830	H476Y	probably damaging	Het
Myom1	A	G	17: 71,036,453	E215G	possibly damaging	Het
Olfr1228	T	C	2: 89,249,251	T148A	possibly damaging	Het
Olfr132	T	A	17: 38,130,598	Q198L	probably damaging	Het
Olfr223	A	T	11: 59,589,486	L201Q	possibly damaging	Het
Pdlim2	T	A	14: 70,171,249	T173S	probably benign	Het
Pitpnb	T	C	5: 111,346,506	M74T	probably benign	Het
Pou2f2	C	A	7: 25,115,556		probably benign	Het
Rab35	A	C	5: 115,645,631		probably null	Het
Rasef	A	T	4: 73,727,607	D508E	probably benign	Het
Rev3l	T	C	10: 39,806,842	S319P	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rgl3	A	G	9: 21,988,863	S44P	probably benign	Het
Rnf214	C	A	9: 45,867,499		probably null	Het
Rpsa	T	C	9: 120,129,251	V76A	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Senp7	T	C	16: 56,158,610	V529A	probably benign	Het
Siglecg	C	T	7: 43,408,896	S69L	probably benign	Het
Sos1	G	T	17: 80,398,413	T1243K	probably damaging	Het
Tmc2	A	G	2: 130,264,164	T872A	probably benign	Het
Tnfrsf8	A	C	4: 145,296,941	C107W	probably damaging	Het
Ttn	T	C	2: 76,738,032	T19179A	probably damaging	Het
Usp42	T	A	5: 143,720,382	K294N	probably damaging	Het
Vmn1r123	T	A	7: 21,163,046	C288S	probably benign	Het
Vmn1r29	T	A	6: 58,308,206	*304K	probably null	Het
Vmn2r1	T	C	3: 64,089,913	I330T	probably damaging	Het
Vmn2r16	A	G	5: 109,364,131	I735V	probably benign	Het
Vmn2r65	T	C	7: 84,946,752	I241M	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
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
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
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'- GTTAGGGCCTTGGTATCAGC -3'
(R):5'- CACTGTTACCGATAAGATTGTACC -3'

Sequencing Primer
(F):5'- GGCCTTGGTATCAGCCTTCTTG -3'
(R):5'- GCTCTCTTGAATGGAGGAAAACTC -3'

Posted On

2021-01-18