Mutagenetix > Incidental Mutation

Incidental Mutation 'R2850:Tnn'

252037

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

tenascin-W, Tnw

MMRRC Submission

040443-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R2850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

159912599-159981150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 159966857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 429 (D429G)

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: D429G

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

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: D429G

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: D429G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: D429G

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: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (57/57)

Allele List at MGI

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

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	A	13: 12,290,065 (GRCm39)	T734S	probably damaging	Het
Ago1	T	C	4: 126,336,868 (GRCm39)		probably benign	Het
Ahi1	C	T	10: 20,876,492 (GRCm39)	T801I	probably benign	Het
Alms1	T	C	6: 85,598,281 (GRCm39)	S1505P	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Anxa6	T	A	11: 54,901,852 (GRCm39)	Y95F	possibly damaging	Het
Cacna1b	C	T	2: 24,651,800 (GRCm39)	M126I	probably damaging	Het
Clk1	A	G	1: 58,451,438 (GRCm39)	L457S	probably damaging	Het
Cngb3	T	C	4: 19,415,690 (GRCm39)	I400T	possibly damaging	Het
Cntnap5c	T	A	17: 58,717,343 (GRCm39)		probably benign	Het
Corin	A	G	5: 72,462,298 (GRCm39)	V837A	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cubn	G	A	2: 13,327,764 (GRCm39)	T2687I	probably damaging	Het
Cypt3	T	A	X: 152,342,274 (GRCm39)	N168K	probably damaging	Het
E330020D12Rik	A	G	1: 153,282,336 (GRCm39)		noncoding transcript	Het
Fbxl4	T	C	4: 22,403,624 (GRCm39)	M399T	probably benign	Het
Fbxo22	T	C	9: 55,130,699 (GRCm39)	F323L	probably damaging	Het
Fnip1	A	T	11: 54,393,503 (GRCm39)	E646D	probably benign	Het
Gid4	G	A	11: 60,329,400 (GRCm39)		probably null	Het
Gnb5	A	T	9: 75,234,511 (GRCm39)	D70V	probably damaging	Het
Gpank1	A	G	17: 35,343,557 (GRCm39)	S346G	probably benign	Het
Gtf3c6	T	C	10: 40,130,254 (GRCm39)		probably benign	Het
Hdx	T	C	X: 110,502,720 (GRCm39)	I562V	probably benign	Het
Ifrd2	T	C	9: 107,468,908 (GRCm39)		probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Kif11	C	A	19: 37,397,941 (GRCm39)	D630E	probably benign	Het
Lpl	G	T	8: 69,352,164 (GRCm39)	E372*	probably null	Het
Mrps26	T	C	2: 130,406,967 (GRCm39)	V198A	probably benign	Het
Mucl1	T	C	15: 103,782,348 (GRCm39)	N201S	possibly damaging	Het
Nedd4	C	T	9: 72,632,356 (GRCm39)	L397F	possibly damaging	Het
Nfat5	A	G	8: 108,020,492 (GRCm39)	D12G	probably damaging	Het
Or5b102	T	C	19: 13,040,934 (GRCm39)	L53P	probably damaging	Het
Pik3r3	A	G	4: 116,127,981 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,350,622 (GRCm39)	V489E	possibly damaging	Het
Pkhd1	T	C	1: 20,579,300 (GRCm39)	E1802G	possibly damaging	Het
Plb1	T	A	5: 32,450,568 (GRCm39)	S370T	probably benign	Het
Ppat	G	A	5: 77,067,222 (GRCm39)	T337I	probably benign	Het
Prkd3	A	G	17: 79,262,025 (GRCm39)	V763A	possibly damaging	Het
Prr9	A	T	3: 92,030,476 (GRCm39)	S55T	probably benign	Het
Rbpms	G	T	8: 34,324,405 (GRCm39)	N108K	possibly damaging	Het
Rc3h2	A	T	2: 37,267,427 (GRCm39)	D972E	probably benign	Het
Rrbp1	C	T	2: 143,791,269 (GRCm39)	R1378Q	probably benign	Het
Slc26a7	T	A	4: 14,593,806 (GRCm39)		probably benign	Het
Stard6	T	A	18: 70,616,522 (GRCm39)	H60Q	probably benign	Het
Sult6b2	T	C	6: 142,743,613 (GRCm39)	T138A	probably benign	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tmco3	A	G	8: 13,345,024 (GRCm39)	H268R	probably benign	Het
Tnrc6a	G	A	7: 122,779,023 (GRCm39)	G1245R	probably damaging	Het
Trem3	C	A	17: 48,556,669 (GRCm39)	L47M	probably benign	Het
Trpm6	T	A	19: 18,769,454 (GRCm39)	C307S	possibly damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm39)	N231K	probably benign	Het
Urb1	A	G	16: 90,571,144 (GRCm39)	Y1222H	probably benign	Het
Wdr81	A	T	11: 75,341,998 (GRCm39)	S1090T	probably damaging	Het
Ythdf3	T	C	3: 16,257,982 (GRCm39)		probably benign	Het
Zfp280d	A	G	9: 72,219,371 (GRCm39)	T183A	probably benign	Het
Zfp354c	G	A	11: 50,706,158 (GRCm39)	Q306*	probably null	Het
Zp2	T	C	7: 119,737,529 (GRCm39)	H252R	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
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
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'- TTCCCCAGGACATGAAAAGAAG -3'
(R):5'- AATCCCAAGGCTTGTCACCTG -3'

Sequencing Primer
(F):5'- TGAAACGGGAGAGATTTGCTTC -3'
(R):5'- AAGGCTTGTCACCTGCCTTG -3'

Posted On

2014-12-04