Mutagenetix > Incidental Mutation

Incidental Mutation 'R5398:Tnn'

429780

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

tenascin-W, Tnw

MMRRC Submission

042969-MU

Accession Numbers

Essential gene?

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

Stock #

R5398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

159912599-159981150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 159975092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 112 (M112L)

Ref Sequence

ENSEMBL: ENSMUSP00000115685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039178] [ENSMUST00000131919]

AlphaFold

Q80Z71

Predicted Effect

probably benign
Transcript: ENSMUST00000039178
AA Change: M112L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: M112L

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
AA Change: M112L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: M112L

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

95% (59/62)

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
Adam32	A	G	8: 25,362,595 (GRCm39)	L34P	possibly damaging	Het
Adam34	A	C	8: 44,104,278 (GRCm39)	C456G	probably damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Atp8b3	T	C	10: 80,365,533 (GRCm39)	D407G	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Chac1	T	G	2: 119,183,725 (GRCm39)	L109R	possibly damaging	Het
Csf2rb	A	G	15: 78,232,820 (GRCm39)	D709G	probably benign	Het
Ddx42	T	A	11: 106,115,724 (GRCm39)	D112E	probably benign	Het
Dnah5	A	G	15: 28,293,872 (GRCm39)	K1326E	probably benign	Het
Dnajc3	T	A	14: 119,209,799 (GRCm39)	Y291*	probably null	Het
Dsg2	T	C	18: 20,712,190 (GRCm39)	F109L	probably benign	Het
Egfl8	T	C	17: 34,833,613 (GRCm39)		probably benign	Het
Emb	T	A	13: 117,404,088 (GRCm39)	I280N	probably damaging	Het
Gcc2	C	A	10: 58,105,329 (GRCm39)	N188K	probably benign	Het
Gdpd4	A	T	7: 97,621,185 (GRCm39)	H166L	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Itga11	A	G	9: 62,653,205 (GRCm39)	T360A	probably benign	Het
Kctd1	A	G	18: 15,195,322 (GRCm39)	S434P	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,394,401 (GRCm39)	E824G	possibly damaging	Het
Lekr1	T	A	3: 65,688,807 (GRCm39)		noncoding transcript	Het
Ociad1	T	A	5: 73,467,755 (GRCm39)	V231E	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1l4	C	A	2: 37,091,330 (GRCm39)	Q26K	probably benign	Het
Pcdhb1	T	C	18: 37,399,207 (GRCm39)	L386P	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pcnx2	T	C	8: 126,614,687 (GRCm39)	K255E	possibly damaging	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Ppl	A	G	16: 4,922,786 (GRCm39)	M235T	probably benign	Het
Prl7d1	T	A	13: 27,894,057 (GRCm39)	I171F	probably damaging	Het
Ptprt	T	C	2: 161,769,512 (GRCm39)	Y451C	probably damaging	Het
Ranbp17	A	T	11: 33,424,998 (GRCm39)	Y453N	probably damaging	Het
Rgs16	C	T	1: 153,616,246 (GRCm39)	T11I	probably benign	Het
Rragb	G	A	X: 151,923,550 (GRCm39)	G24E	probably damaging	Het
Scn9a	T	C	2: 66,318,387 (GRCm39)	Y1479C	probably damaging	Het
Slc35f4	T	C	14: 49,536,304 (GRCm39)	T294A	probably damaging	Het
Slc39a6	A	T	18: 24,730,936 (GRCm39)	I61N	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spink12	A	G	18: 44,240,794 (GRCm39)	D60G	possibly damaging	Het
Sppl2a	T	C	2: 126,761,638 (GRCm39)	I289V	probably benign	Het
Srebf2	A	G	15: 82,055,443 (GRCm39)	T176A	probably damaging	Het
Syce1l	T	C	8: 114,379,145 (GRCm39)	L91S	probably damaging	Het
Tchhl1	T	C	3: 93,378,910 (GRCm39)	I538T	probably benign	Het
Tcte1	C	T	17: 45,850,752 (GRCm39)	Q343*	probably null	Het
Tdpoz2	T	G	3: 93,559,441 (GRCm39)	D177A	probably damaging	Het
Thada	T	G	17: 84,733,614 (GRCm39)	D1011A	probably benign	Het
Traf1	T	C	2: 34,835,447 (GRCm39)	E325G	probably damaging	Het
Tyw1	T	C	5: 130,305,998 (GRCm39)		probably benign	Het
Vmn2r111	C	A	17: 22,792,252 (GRCm39)	M1I	probably null	Het
Wdr11	C	T	7: 129,232,956 (GRCm39)	T996M	probably damaging	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
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
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'- AAGGGACATGCACCAAGATC -3'
(R):5'- AGGTCACTGTTAGCCACACC -3'

Sequencing Primer
(F):5'- GATCTCACAGCACCCATGAGG -3'
(R):5'- CAAGATTGACGTGCCCAAGTCTG -3'

Posted On

2016-09-06