Mutagenetix > Incidental Mutation

Incidental Mutation 'R4183:Tnn'

319800

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

tenascin-W, Tnw

MMRRC Submission

041019-MU

Accession Numbers

Essential gene?

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

Stock #

R4183 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

159912599-159981150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 159924925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1143 (D1143G)

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: D1407G

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: D1407G

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: D1143G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: D1143G

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	T	C	8: 123,626,415 (GRCm39)	I198V	possibly damaging	Het
Arhgap12	T	C	18: 6,111,734 (GRCm39)	D210G	probably damaging	Het
Arpc2	T	A	1: 74,287,322 (GRCm39)	N31K	probably damaging	Het
Atp11a	T	A	8: 12,866,990 (GRCm39)	V139D	possibly damaging	Het
Bicral	T	C	17: 47,124,955 (GRCm39)	K615E	probably damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,120,763 (GRCm39)		probably benign	Het
Chrnb1	T	C	11: 69,677,922 (GRCm39)	M277V	possibly damaging	Het
Csmd1	C	T	8: 15,960,464 (GRCm39)	C3317Y	probably damaging	Het
Ddx1	A	T	12: 13,281,504 (GRCm39)	L353*	probably null	Het
Degs2	T	C	12: 108,658,358 (GRCm39)	K207R	probably damaging	Het
Fam167a	T	C	14: 63,689,769 (GRCm39)	V22A	probably benign	Het
Fam186a	G	A	15: 99,831,566 (GRCm39)		probably benign	Het
Gprc5b	T	C	7: 118,583,749 (GRCm39)	D40G	probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Inpp5j	A	G	11: 3,451,134 (GRCm39)	I505T	probably damaging	Het
Lurap1l	G	A	4: 80,872,095 (GRCm39)	S196N	probably benign	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Mapkbp1	A	G	2: 119,848,346 (GRCm39)	D632G	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mdga1	A	G	17: 30,188,964 (GRCm39)	V33A	unknown	Het
Me3	A	G	7: 89,501,038 (GRCm39)	D583G	probably benign	Het
Mndal	T	A	1: 173,703,337 (GRCm39)	T23S	possibly damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Nat10	A	G	2: 103,570,158 (GRCm39)	L395P	probably damaging	Het
Naxd	T	C	8: 11,552,757 (GRCm39)	V59A	probably damaging	Het
Nbeal2	A	T	9: 110,465,743 (GRCm39)	V876E	probably benign	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Or4a39	T	C	2: 89,236,935 (GRCm39)	T163A	probably benign	Het
Or51v8	T	C	7: 103,320,178 (GRCm39)	Y20C	possibly damaging	Het
Or8g50	A	G	9: 39,648,344 (GRCm39)	T78A	probably benign	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk4	C	T	10: 80,160,845 (GRCm39)	R327Q	probably benign	Het
Pkhd1	C	T	1: 20,188,031 (GRCm39)	V3426I	probably benign	Het
Ranbp2	T	C	10: 58,301,488 (GRCm39)	F687L	possibly damaging	Het
Rb1	A	G	14: 73,435,966 (GRCm39)		probably null	Het
Tfpi2	C	A	6: 3,963,926 (GRCm39)	V51L	probably damaging	Het
Ttn	A	G	2: 76,541,586 (GRCm39)	M25473T	probably benign	Het
Vmn1r201	A	G	13: 22,659,022 (GRCm39)	I79V	probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wdr25	T	A	12: 108,993,257 (GRCm39)	F491Y	probably benign	Het
Zfp972	G	A	2: 177,563,250 (GRCm39)	Q56*	probably null	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	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
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
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'- GAGACTGCCATAGTGAGACATC -3'
(R):5'- CCACGATGTCATTAGCATTGCC -3'

Sequencing Primer
(F):5'- ATAGTGAGACATCTCTCTTACCGG -3'
(R):5'- CATTGCCATGCCAAAGAAATAAGG -3'

Posted On

2015-06-10