Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Tnn'

202337

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

tenascin-W, Tnw

MMRRC Submission

039827-MU

Accession Numbers

Essential gene?

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

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

159912599-159981150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 159968258 bp (GRCm39)

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: 72,089,285 (GRCm39)	K200E	possibly damaging	Het
Abcc2	A	G	19: 43,803,225 (GRCm39)	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Abcg3	C	T	5: 105,087,030 (GRCm39)	S534N	possibly damaging	Het
Acp1	A	G	12: 30,946,113 (GRCm39)		probably null	Het
Adam12	C	A	7: 133,569,590 (GRCm39)	R295L	probably benign	Het
Albfm1	A	T	5: 90,727,460 (GRCm39)	E359D	probably damaging	Het
Alg1	C	A	16: 5,057,007 (GRCm39)	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,726,149 (GRCm39)	W410R	possibly damaging	Het
As3mt	A	G	19: 46,713,373 (GRCm39)	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,115,843 (GRCm39)	I289V	probably damaging	Het
Cdk17	A	G	10: 93,044,114 (GRCm39)	I18V	possibly damaging	Het
Cep131	C	T	11: 119,964,562 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Cnih2	T	C	19: 5,144,314 (GRCm39)	K66E	probably benign	Het
Cpsf3	T	A	12: 21,356,851 (GRCm39)	N491K	probably benign	Het
Cux1	C	T	5: 136,304,169 (GRCm39)	E1253K	probably benign	Het
Dcc	A	C	18: 71,500,232 (GRCm39)	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,739,439 (GRCm39)	M200K	probably damaging	Het
Ech1	A	G	7: 28,531,288 (GRCm39)	Y292C	probably damaging	Het
Edc4	G	T	8: 106,617,717 (GRCm39)	A1121S	probably benign	Het
Eml6	T	A	11: 29,832,041 (GRCm39)	I210F	probably benign	Het
Fam135b	T	C	15: 71,324,290 (GRCm39)	T1226A	probably benign	Het
Flg2	C	T	3: 93,108,283 (GRCm39)	R104C	probably damaging	Het
Frzb	T	C	2: 80,276,872 (GRCm39)	I105V	possibly damaging	Het
Gli3	A	G	13: 15,888,097 (GRCm39)	D504G	probably damaging	Het
Gm42669	A	T	5: 107,655,683 (GRCm39)	K1161*	probably null	Het
Gm6665	T	C	18: 31,953,186 (GRCm39)	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,145,593 (GRCm39)	V148A	probably benign	Het
Hoxc5	T	C	15: 102,922,866 (GRCm39)	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,168 (GRCm39)	I59F	probably damaging	Het
Iqch	G	A	9: 63,495,659 (GRCm39)	P111S	possibly damaging	Het
Itih1	G	T	14: 30,651,856 (GRCm39)	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,864,833 (GRCm39)	E632D	probably benign	Het
L2hgdh	C	T	12: 69,746,340 (GRCm39)	M373I	probably benign	Het
Map3k4	C	T	17: 12,482,906 (GRCm39)	E604K	probably benign	Het
Mok	T	A	12: 110,774,479 (GRCm39)	Y420F	probably benign	Het
Nedd1	G	A	10: 92,534,601 (GRCm39)	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,042,160 (GRCm39)	M174L	probably benign	Het
Or6c213	A	C	10: 129,574,578 (GRCm39)	I69M	probably benign	Het
Pag1	T	A	3: 9,758,946 (GRCm39)	T391S	probably benign	Het
Palm3	A	G	8: 84,755,432 (GRCm39)	R315G	probably benign	Het
Patj	C	T	4: 98,575,675 (GRCm39)	R1177W	probably damaging	Het
Pbld2	G	A	10: 62,910,903 (GRCm39)		probably null	Het
Phldb1	A	T	9: 44,627,842 (GRCm39)	M81K	probably damaging	Het
Pkn2	A	G	3: 142,515,289 (GRCm39)	F682L	probably damaging	Het
Plce1	T	C	19: 38,747,392 (GRCm39)		probably null	Het
Plekha8	T	A	6: 54,617,959 (GRCm39)	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,981 (GRCm39)	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,564,410 (GRCm39)	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,123,546 (GRCm39)	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743 (GRCm38)	V52A	probably damaging	Het
Rab27b	A	G	18: 70,122,617 (GRCm39)	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,230,723 (GRCm39)		probably null	Het
Rasa3	G	A	8: 13,632,372 (GRCm39)	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,393,634 (GRCm39)	R499*	probably null	Het
S1pr4	A	G	10: 81,335,024 (GRCm39)	M150T	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,917,150 (GRCm39)	K173R	probably benign	Het
Serpina3m	T	A	12: 104,355,774 (GRCm39)	I147N	probably damaging	Het
Sh3rf3	G	T	10: 58,922,489 (GRCm39)	G522*	probably null	Het
Smad1	A	T	8: 80,070,473 (GRCm39)	V355E	probably damaging	Het
Srsf11	A	G	3: 157,725,065 (GRCm39)	V211A	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stt3a	C	T	9: 36,654,711 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,010,557 (GRCm39)	V2488A	probably benign	Het
Tbc1d23	T	C	16: 56,993,463 (GRCm39)	T568A	possibly damaging	Het
Trim50	T	C	5: 135,382,355 (GRCm39)	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,132,024 (GRCm39)	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,841,567 (GRCm39)	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,042,128 (GRCm39)	T196A	probably benign	Het
Wdr64	G	A	1: 175,639,585 (GRCm39)	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,369,996 (GRCm39)	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298 (GRCm39)	K216*	probably null	Het
Zfp39	T	C	11: 58,791,486 (GRCm39)	D67G	probably damaging	Het
Zfp40	A	G	17: 23,394,514 (GRCm39)	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,758,215 (GRCm39)	V716A	probably benign	Het
Zfp616	T	A	11: 73,976,105 (GRCm39)	C791*	probably null	Het
Zfp932	G	A	5: 110,144,489 (GRCm39)		probably benign	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
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
R4977:Tnn	UTSW	1	159,948,188 (GRCm39)	missense	probably damaging	1.00
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'- GGAATCCAGTGTGGTTCCTAAG -3'
(R):5'- TGAAGCCAGCTCTAAGTGTG -3'

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

Posted On

2014-06-23