Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Tnn'

382728

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

tenascin-W, Tnw

MMRRC Submission

042572-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

159912599-159981150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 159948188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 842 (G842W)

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: G842W

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

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: G842W

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

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725

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: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,026,899 (GRCm39)	D910G	probably benign	Het
Amy1	C	T	3: 113,363,026 (GRCm39)		probably null	Het
C1s2	A	G	6: 124,612,598 (GRCm39)	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Cdyl2	A	G	8: 117,302,008 (GRCm39)	C458R	probably damaging	Het
Cep112	T	C	11: 108,325,062 (GRCm39)	S35P	probably damaging	Het
Chd9	T	C	8: 91,760,336 (GRCm39)	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,294,436 (GRCm39)	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,286,236 (GRCm39)		probably null	Het
Dis3l	A	C	9: 64,214,483 (GRCm39)	S919A	probably benign	Het
Dnah8	A	G	17: 30,882,275 (GRCm39)	T616A	probably benign	Het
Emx2	A	G	19: 59,447,678 (GRCm39)	T11A	probably damaging	Het
Fbxl18	A	G	5: 142,871,840 (GRCm39)	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,601,187 (GRCm39)	T311I	probably damaging	Het
Fhip1b	A	T	7: 105,038,542 (GRCm39)	D232E	probably damaging	Het
Fstl5	C	T	3: 76,317,801 (GRCm39)	Q156*	probably null	Het
Ggn	G	T	7: 28,871,621 (GRCm39)	G334C	probably damaging	Het
Grik2	T	C	10: 49,008,841 (GRCm39)	N749D	probably damaging	Het
Helb	A	G	10: 119,946,786 (GRCm39)	S176P	probably benign	Het
Hyal1	A	G	9: 107,456,153 (GRCm39)	D73G	probably benign	Het
Ifi205	C	A	1: 173,842,574 (GRCm39)	R374I	probably benign	Het
Ift172	A	T	5: 31,429,460 (GRCm39)	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,909,845 (GRCm39)	S26T	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Jam3	A	G	9: 27,009,669 (GRCm39)	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,637,659 (GRCm39)	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,406,946 (GRCm39)	V250A	probably benign	Het
Lama1	A	G	17: 68,044,677 (GRCm39)	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,364,846 (GRCm39)	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,917,382 (GRCm39)	R204S	probably benign	Het
Lrrn1	A	G	6: 107,545,668 (GRCm39)	I489V	probably benign	Het
Mdh2	T	A	5: 135,812,263 (GRCm39)	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,844,302 (GRCm39)	S282P	probably benign	Het
Midn	T	A	10: 79,986,018 (GRCm39)	I36N	probably damaging	Het
Mpped1	A	T	15: 83,680,907 (GRCm39)		probably benign	Het
Myh10	A	G	11: 68,689,197 (GRCm39)	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,478,449 (GRCm39)	S155P	possibly damaging	Het
Or2g7	A	T	17: 38,378,638 (GRCm39)	H192L	possibly damaging	Het
Or2t46	A	G	11: 58,472,455 (GRCm39)	T262A	possibly damaging	Het
Or52ab7	A	T	7: 102,978,040 (GRCm39)	M116L	probably benign	Het
Pex7	T	C	10: 19,745,078 (GRCm39)	T258A	probably benign	Het
Plg	A	G	17: 12,621,976 (GRCm39)	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,971,337 (GRCm39)	S144T	probably damaging	Het
Prkch	T	C	12: 73,749,667 (GRCm39)	F420S	possibly damaging	Het
Psg26	A	G	7: 18,209,235 (GRCm39)	V391A	probably benign	Het
Psg29	G	A	7: 16,942,556 (GRCm39)	G186R	probably damaging	Het
Rev3l	T	A	10: 39,699,574 (GRCm39)	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,123 (GRCm39)		probably benign	Het
Runx1	T	A	16: 92,441,235 (GRCm39)		probably null	Het
Sapcd1	A	T	17: 35,245,427 (GRCm39)	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,332 (GRCm39)	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,183,314 (GRCm39)	E59K	probably benign	Het
Slc8b1	A	G	5: 120,662,352 (GRCm39)	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,603,283 (GRCm39)	M221I	probably benign	Het
Smg5	C	T	3: 88,263,032 (GRCm39)	Q812*	probably null	Het
Smr3a	T	G	5: 88,155,962 (GRCm39)		probably null	Het
Syt9	G	A	7: 107,103,479 (GRCm39)	D426N	probably damaging	Het
Tcf25	T	C	8: 124,115,374 (GRCm39)	Y204H	probably benign	Het
Tmeff2	T	A	1: 51,018,715 (GRCm39)	C232*	probably null	Het
Tmem184a	C	A	5: 139,793,757 (GRCm39)	G219V	probably null	Het
Tnc	G	T	4: 63,924,485 (GRCm39)	T1071K	possibly damaging	Het
Tshz3	T	A	7: 36,470,615 (GRCm39)	I868N	probably benign	Het
Ulbp1	C	T	10: 7,397,391 (GRCm39)	R238H	probably benign	Het
Ushbp1	C	T	8: 71,847,693 (GRCm39)		probably null	Het
Usp34	G	C	11: 23,438,982 (GRCm39)	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,887,726 (GRCm39)	E10G	probably damaging	Het
Xdh	A	T	17: 74,205,965 (GRCm39)	F1016L	probably benign	Het
Zfp235	T	G	7: 23,841,609 (GRCm39)	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,186,811 (GRCm39)	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,195,731 (GRCm39)	S163P	probably damaging	Het
Zfp93	A	G	7: 23,974,836 (GRCm39)	I274V	probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het

Other mutations in Tnn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Tnn	APN	1	159,953,021 (GRCm39)	missense	possibly damaging	0.65
IGL00433:Tnn	APN	1	159,925,776 (GRCm39)	splice site	probably benign
IGL00858:Tnn	APN	1	159,915,962 (GRCm39)	critical splice donor site	probably null
IGL00939:Tnn	APN	1	159,975,100 (GRCm39)	missense	probably damaging	1.00
IGL01569:Tnn	APN	1	159,948,124 (GRCm39)	missense	possibly damaging	0.51
IGL01591:Tnn	APN	1	159,953,144 (GRCm39)	missense	probably damaging	1.00
IGL01628:Tnn	APN	1	159,975,172 (GRCm39)	missense	possibly damaging	0.89
IGL01811:Tnn	APN	1	159,934,705 (GRCm39)	missense	probably damaging	1.00
IGL01813:Tnn	APN	1	159,916,008 (GRCm39)	missense	probably damaging	1.00
IGL02340:Tnn	APN	1	159,972,775 (GRCm39)	missense	probably benign	0.00
IGL02488:Tnn	APN	1	159,968,163 (GRCm39)	missense	probably benign	0.21
IGL02535:Tnn	APN	1	159,950,222 (GRCm39)	splice site	probably null
IGL02563:Tnn	APN	1	159,942,123 (GRCm39)	missense	probably damaging	1.00
IGL02572:Tnn	APN	1	159,913,677 (GRCm39)	missense	probably damaging	1.00
IGL02740:Tnn	APN	1	159,968,347 (GRCm39)	splice site	probably benign
IGL02818:Tnn	APN	1	159,943,848 (GRCm39)	missense	possibly damaging	0.86
IGL03284:Tnn	APN	1	159,953,022 (GRCm39)	missense	probably benign	0.01
1mM(1):Tnn	UTSW	1	159,924,911 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Tnn	UTSW	1	159,913,647 (GRCm39)	missense	possibly damaging	0.91
R0023:Tnn	UTSW	1	159,932,498 (GRCm39)	missense	probably benign	0.00
R0234:Tnn	UTSW	1	159,916,036 (GRCm39)	missense	probably damaging	1.00
R0234:Tnn	UTSW	1	159,916,036 (GRCm39)	missense	probably damaging	1.00
R0316:Tnn	UTSW	1	159,948,137 (GRCm39)	missense	possibly damaging	0.93
R0492:Tnn	UTSW	1	159,948,327 (GRCm39)	missense	probably damaging	0.99
R0547:Tnn	UTSW	1	159,943,907 (GRCm39)	intron	probably benign
R1067:Tnn	UTSW	1	159,952,968 (GRCm39)	missense	probably damaging	1.00
R1563:Tnn	UTSW	1	159,952,985 (GRCm39)	missense	probably damaging	1.00
R1565:Tnn	UTSW	1	159,924,835 (GRCm39)	missense	probably damaging	1.00
R1615:Tnn	UTSW	1	159,945,978 (GRCm39)	missense	possibly damaging	0.93
R1637:Tnn	UTSW	1	159,975,170 (GRCm39)	missense	probably damaging	1.00
R1707:Tnn	UTSW	1	159,972,714 (GRCm39)	missense	probably damaging	1.00
R1758:Tnn	UTSW	1	159,975,154 (GRCm39)	missense	possibly damaging	0.61
R1797:Tnn	UTSW	1	159,968,258 (GRCm39)	missense	probably damaging	1.00
R1847:Tnn	UTSW	1	159,943,752 (GRCm39)	missense	possibly damaging	0.51
R1925:Tnn	UTSW	1	159,924,799 (GRCm39)	missense	probably damaging	1.00
R2182:Tnn	UTSW	1	159,968,170 (GRCm39)	splice site	probably null
R2196:Tnn	UTSW	1	159,924,798 (GRCm39)	nonsense	probably null
R2225:Tnn	UTSW	1	159,975,035 (GRCm39)	missense	probably damaging	1.00
R2227:Tnn	UTSW	1	159,975,035 (GRCm39)	missense	probably damaging	1.00
R2286:Tnn	UTSW	1	159,938,079 (GRCm39)	missense	possibly damaging	0.89
R2850:Tnn	UTSW	1	159,966,857 (GRCm39)	missense	probably benign	0.00
R3110:Tnn	UTSW	1	159,943,856 (GRCm39)	missense	possibly damaging	0.71
R3111:Tnn	UTSW	1	159,934,625 (GRCm39)	missense	probably damaging	0.98
R3112:Tnn	UTSW	1	159,943,856 (GRCm39)	missense	possibly damaging	0.71
R3729:Tnn	UTSW	1	159,973,810 (GRCm39)	missense	probably damaging	1.00
R4183:Tnn	UTSW	1	159,924,925 (GRCm39)	missense	probably damaging	1.00
R4439:Tnn	UTSW	1	159,943,650 (GRCm39)	missense	probably benign
R4441:Tnn	UTSW	1	159,943,650 (GRCm39)	missense	probably benign
R4588:Tnn	UTSW	1	159,972,681 (GRCm39)	missense	probably benign	0.25
R4646:Tnn	UTSW	1	159,973,612 (GRCm39)	missense	probably benign
R4647:Tnn	UTSW	1	159,973,612 (GRCm39)	missense	probably benign
R4648:Tnn	UTSW	1	159,973,612 (GRCm39)	missense	probably benign
R4701:Tnn	UTSW	1	159,975,338 (GRCm39)	missense	possibly damaging	0.72
R4703:Tnn	UTSW	1	159,943,815 (GRCm39)	missense	possibly damaging	0.84
R4737:Tnn	UTSW	1	159,973,659 (GRCm39)	missense	probably damaging	1.00
R4801:Tnn	UTSW	1	159,972,603 (GRCm39)	missense	possibly damaging	0.90
R4802:Tnn	UTSW	1	159,972,603 (GRCm39)	missense	possibly damaging	0.90
R4868:Tnn	UTSW	1	159,958,443 (GRCm39)	missense	possibly damaging	0.64
R5011:Tnn	UTSW	1	159,953,949 (GRCm39)	missense	possibly damaging	0.89
R5026:Tnn	UTSW	1	159,973,707 (GRCm39)	missense	probably benign	0.00
R5027:Tnn	UTSW	1	159,972,781 (GRCm39)	missense	probably damaging	1.00
R5049:Tnn	UTSW	1	159,968,308 (GRCm39)	missense	probably benign	0.00
R5119:Tnn	UTSW	1	159,948,122 (GRCm39)	missense	probably damaging	0.98
R5128:Tnn	UTSW	1	159,950,464 (GRCm39)	missense	probably damaging	0.98
R5234:Tnn	UTSW	1	159,972,569 (GRCm39)	missense	possibly damaging	0.95
R5398:Tnn	UTSW	1	159,975,092 (GRCm39)	missense	probably benign	0.00
R5424:Tnn	UTSW	1	159,950,272 (GRCm39)	missense	possibly damaging	0.69
R5452:Tnn	UTSW	1	159,937,831 (GRCm39)	missense	probably benign	0.13
R5466:Tnn	UTSW	1	159,948,106 (GRCm39)	missense	possibly damaging	0.93
R6022:Tnn	UTSW	1	159,937,928 (GRCm39)	missense	probably benign	0.00
R6062:Tnn	UTSW	1	159,925,848 (GRCm39)	missense	probably damaging	1.00
R6086:Tnn	UTSW	1	159,913,690 (GRCm39)	missense	probably damaging	1.00
R6132:Tnn	UTSW	1	159,973,641 (GRCm39)	missense	probably damaging	0.96
R6324:Tnn	UTSW	1	159,972,774 (GRCm39)	missense	probably damaging	0.96
R6455:Tnn	UTSW	1	159,942,289 (GRCm39)	missense	probably damaging	1.00
R6563:Tnn	UTSW	1	159,915,968 (GRCm39)	missense	probably damaging	1.00
R6650:Tnn	UTSW	1	159,942,153 (GRCm39)	missense	probably damaging	1.00
R6806:Tnn	UTSW	1	159,948,278 (GRCm39)	missense	possibly damaging	0.95
R6810:Tnn	UTSW	1	159,932,412 (GRCm39)	missense	probably damaging	1.00
R7157:Tnn	UTSW	1	159,953,947 (GRCm39)	nonsense	probably null
R7243:Tnn	UTSW	1	159,934,687 (GRCm39)	missense	probably benign	0.07
R7340:Tnn	UTSW	1	159,973,592 (GRCm39)	missense	probably damaging	0.98
R7472:Tnn	UTSW	1	159,937,917 (GRCm39)	missense	probably benign	0.12
R7502:Tnn	UTSW	1	159,937,929 (GRCm39)	missense	probably benign	0.00
R7527:Tnn	UTSW	1	159,946,074 (GRCm39)	missense	possibly damaging	0.51
R7608:Tnn	UTSW	1	159,915,984 (GRCm39)	nonsense	probably null
R7746:Tnn	UTSW	1	159,942,255 (GRCm39)	missense	probably damaging	0.97
R8096:Tnn	UTSW	1	159,950,411 (GRCm39)	missense	probably damaging	1.00
R8136:Tnn	UTSW	1	159,934,630 (GRCm39)	missense	probably damaging	0.96
R8191:Tnn	UTSW	1	159,953,088 (GRCm39)	missense	probably damaging	1.00
R8334:Tnn	UTSW	1	159,946,053 (GRCm39)	missense	probably damaging	1.00
R8335:Tnn	UTSW	1	159,946,053 (GRCm39)	missense	probably damaging	1.00
R8337:Tnn	UTSW	1	159,946,053 (GRCm39)	missense	probably damaging	1.00
R8338:Tnn	UTSW	1	159,946,053 (GRCm39)	missense	probably damaging	1.00
R8427:Tnn	UTSW	1	159,958,256 (GRCm39)	missense	probably damaging	0.99
R8433:Tnn	UTSW	1	159,924,790 (GRCm39)	missense	possibly damaging	0.81
R8479:Tnn	UTSW	1	159,950,397 (GRCm39)	missense	probably benign	0.06
R8505:Tnn	UTSW	1	159,973,593 (GRCm39)	missense	probably damaging	0.98
R8554:Tnn	UTSW	1	159,937,986 (GRCm39)	missense	probably damaging	1.00
R8717:Tnn	UTSW	1	159,943,846 (GRCm39)	missense	possibly damaging	0.51
R8850:Tnn	UTSW	1	159,937,814 (GRCm39)	critical splice donor site	probably null
R8928:Tnn	UTSW	1	159,953,099 (GRCm39)	missense	probably damaging	1.00
R9209:Tnn	UTSW	1	159,953,986 (GRCm39)	missense	probably benign	0.02
X0019:Tnn	UTSW	1	159,913,716 (GRCm39)	missense	probably damaging	1.00
Z1176:Tnn	UTSW	1	159,973,863 (GRCm39)	missense	probably benign
Z1177:Tnn	UTSW	1	159,954,097 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGTGCAAGCTGTACAGAAATGATC -3'
(R):5'- CTAGTGGATACTGATCAAGCTTTTC -3'

Sequencing Primer
(F):5'- CAAACATGACTTCTCATAGGTGTGGG -3'
(R):5'- GCTTTTCTTTTAGATATTGACAGCC -3'

Posted On

2016-04-27