Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:Tnn'

213319

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

039943-MU

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

R1925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160097229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1185 (Y1185C)

Ref Sequence

ENSEMBL: ENSMUSP00000115685 (fasta)

Gene Model

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

AlphaFold

Q80Z71

Predicted Effect

probably damaging
Transcript: ENSMUST00000039178
AA Change: Y1449C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: Y1449C

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: Y1185C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: Y1185C

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

0.9470

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

Allele List at MGI

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

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,671,607 (GRCm38)	H577R	probably damaging	Het
Acvr1	T	C	2: 58,447,649 (GRCm38)	M474V	probably damaging	Het
Adam1a	A	T	5: 121,519,450 (GRCm38)	C593*	probably null	Het
Agap2	A	G	10: 127,090,875 (GRCm38)	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,770,653 (GRCm38)	H958R	probably damaging	Het
Apaf1	A	G	10: 90,999,719 (GRCm38)	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,319,930 (GRCm38)	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726 (GRCm38)	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,697,764 (GRCm38)	M1105V	probably benign	Het
Clasp2	T	A	9: 113,906,197 (GRCm38)	F1033L	possibly damaging	Het
Col4a3	T	G	1: 82,711,874 (GRCm38)		probably benign	Het
Col4a3	T	A	1: 82,700,373 (GRCm38)	I1232N	unknown	Het
Comtd1	T	G	14: 21,847,663 (GRCm38)	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,034,377 (GRCm38)	T320S	probably benign	Het
Dlx2	T	C	2: 71,546,178 (GRCm38)	N72S	probably benign	Het
Dnhd1	T	A	7: 105,652,252 (GRCm38)	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,673,854 (GRCm38)	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,332,931 (GRCm38)	I140F	probably damaging	Het
Elmod2	G	A	8: 83,321,464 (GRCm38)	A123V	probably benign	Het
Etv4	T	C	11: 101,771,681 (GRCm38)		probably benign	Het
F3	A	T	3: 121,729,383 (GRCm38)	T81S	probably damaging	Het
Faf2	C	T	13: 54,652,052 (GRCm38)	A224V	probably damaging	Het
Fbn1	A	T	2: 125,363,629 (GRCm38)	M1109K	probably damaging	Het
Fnbp4	A	G	2: 90,765,843 (GRCm38)	E586G	probably damaging	Het
Gm10428	G	T	11: 62,753,353 (GRCm38)		probably benign	Het
Gm13088	T	A	4: 143,654,455 (GRCm38)	T333S	probably damaging	Het
Gm5884	A	T	6: 128,645,087 (GRCm38)		noncoding transcript	Het
Gm6471	T	A	7: 142,831,582 (GRCm38)		noncoding transcript	Het
Gtse1	T	C	15: 85,873,738 (GRCm38)	V515A	probably benign	Het
H2-M2	T	C	17: 37,482,500 (GRCm38)	E205G	probably damaging	Het
Ido1	T	A	8: 24,585,290 (GRCm38)	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,115,148 (GRCm38)	Y225C	probably damaging	Het
Kcnq3	T	G	15: 66,004,809 (GRCm38)	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,649,490 (GRCm38)	N321D	probably benign	Het
Lztr1	G	T	16: 17,523,383 (GRCm38)	R291L	probably damaging	Het
Micu1	C	T	10: 59,733,161 (GRCm38)		probably benign	Het
Msh5	C	T	17: 35,029,952 (GRCm38)	V702I	probably benign	Het
Myh1	T	C	11: 67,211,170 (GRCm38)	I792T	probably benign	Het
Nav1	T	A	1: 135,607,229 (GRCm38)		probably benign	Het
Ntn4	C	T	10: 93,707,353 (GRCm38)	R314W	probably damaging	Het
Olfr1044	T	C	2: 86,171,010 (GRCm38)	D269G	probably benign	Het
Olfr204	A	G	16: 59,314,664 (GRCm38)	S248P	probably damaging	Het
Olfr266	C	T	3: 106,822,372 (GRCm38)	M62I	probably damaging	Het
Otof	G	C	5: 30,394,188 (GRCm38)	N340K	probably benign	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Plek2	T	A	12: 78,894,890 (GRCm38)	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,651,609 (GRCm38)	Y38*	probably null	Het
Prmt9	T	A	8: 77,577,339 (GRCm38)	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,059,473 (GRCm38)	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,266,038 (GRCm38)	P432Q	probably benign	Het
Scd4	T	G	19: 44,341,384 (GRCm38)	Y265D	probably damaging	Het
Scn5a	C	T	9: 119,529,019 (GRCm38)	A719T	probably benign	Het
Sdk1	T	A	5: 142,185,285 (GRCm38)	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,435,923 (GRCm38)	E12G	probably benign	Het
Slc6a12	T	A	6: 121,360,526 (GRCm38)	F390I	probably benign	Het
Snapin	A	T	3: 90,490,232 (GRCm38)	D77E	possibly damaging	Het
Sox2	G	T	3: 34,650,671 (GRCm38)	E86*	probably null	Het
Sparcl1	A	G	5: 104,093,354 (GRCm38)	L68P	probably benign	Het
Sptb	T	A	12: 76,622,253 (GRCm38)	E562V	probably damaging	Het
Taar3	A	T	10: 23,950,585 (GRCm38)	H343L	probably benign	Het
Tanc1	T	A	2: 59,724,751 (GRCm38)	V51E	possibly damaging	Het
Tbc1d22a	T	C	15: 86,239,149 (GRCm38)	S128P	probably damaging	Het
Thada	A	G	17: 84,444,499 (GRCm38)	S350P	probably benign	Het
Tmem161b	T	C	13: 84,260,229 (GRCm38)	V93A	probably benign	Het
Trim43a	T	C	9: 88,582,318 (GRCm38)	V94A	probably benign	Het
Ttll12	C	T	15: 83,581,775 (GRCm38)	E407K	probably benign	Het
Ttn	T	C	2: 76,725,512 (GRCm38)	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,308,102 (GRCm38)	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,478,389 (GRCm38)	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,556,277 (GRCm38)	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,802,153 (GRCm38)	L276Q	probably damaging	Het
Zan	C	A	5: 137,425,642 (GRCm38)	C2665F	unknown	Het
Zfp507	C	T	7: 35,793,725 (GRCm38)	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,662,017 (GRCm38)	H287R	probably damaging	Het

Other mutations in Tnn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Tnn	APN	1	160,125,451 (GRCm38)	missense	possibly damaging	0.65
IGL00433:Tnn	APN	1	160,098,206 (GRCm38)	splice site	probably benign
IGL00858:Tnn	APN	1	160,088,392 (GRCm38)	critical splice donor site	probably null
IGL00939:Tnn	APN	1	160,147,530 (GRCm38)	missense	probably damaging	1.00
IGL01569:Tnn	APN	1	160,120,554 (GRCm38)	missense	possibly damaging	0.51
IGL01591:Tnn	APN	1	160,125,574 (GRCm38)	missense	probably damaging	1.00
IGL01628:Tnn	APN	1	160,147,602 (GRCm38)	missense	possibly damaging	0.89
IGL01811:Tnn	APN	1	160,107,135 (GRCm38)	missense	probably damaging	1.00
IGL01813:Tnn	APN	1	160,088,438 (GRCm38)	missense	probably damaging	1.00
IGL02340:Tnn	APN	1	160,145,205 (GRCm38)	missense	probably benign	0.00
IGL02488:Tnn	APN	1	160,140,593 (GRCm38)	missense	probably benign	0.21
IGL02535:Tnn	APN	1	160,122,652 (GRCm38)	splice site	probably null
IGL02563:Tnn	APN	1	160,114,553 (GRCm38)	missense	probably damaging	1.00
IGL02572:Tnn	APN	1	160,086,107 (GRCm38)	missense	probably damaging	1.00
IGL02740:Tnn	APN	1	160,140,777 (GRCm38)	splice site	probably benign
IGL02818:Tnn	APN	1	160,116,278 (GRCm38)	missense	possibly damaging	0.86
IGL03284:Tnn	APN	1	160,125,452 (GRCm38)	missense	probably benign	0.01
1mM(1):Tnn	UTSW	1	160,097,341 (GRCm38)	missense	probably damaging	1.00
PIT4305001:Tnn	UTSW	1	160,086,077 (GRCm38)	missense	possibly damaging	0.91
R0023:Tnn	UTSW	1	160,104,928 (GRCm38)	missense	probably benign	0.00
R0234:Tnn	UTSW	1	160,088,466 (GRCm38)	missense	probably damaging	1.00
R0234:Tnn	UTSW	1	160,088,466 (GRCm38)	missense	probably damaging	1.00
R0316:Tnn	UTSW	1	160,120,567 (GRCm38)	missense	possibly damaging	0.93
R0492:Tnn	UTSW	1	160,120,757 (GRCm38)	missense	probably damaging	0.99
R0547:Tnn	UTSW	1	160,116,337 (GRCm38)	intron	probably benign
R1067:Tnn	UTSW	1	160,125,398 (GRCm38)	missense	probably damaging	1.00
R1563:Tnn	UTSW	1	160,125,415 (GRCm38)	missense	probably damaging	1.00
R1565:Tnn	UTSW	1	160,097,265 (GRCm38)	missense	probably damaging	1.00
R1615:Tnn	UTSW	1	160,118,408 (GRCm38)	missense	possibly damaging	0.93
R1637:Tnn	UTSW	1	160,147,600 (GRCm38)	missense	probably damaging	1.00
R1707:Tnn	UTSW	1	160,145,144 (GRCm38)	missense	probably damaging	1.00
R1758:Tnn	UTSW	1	160,147,584 (GRCm38)	missense	possibly damaging	0.61
R1797:Tnn	UTSW	1	160,140,688 (GRCm38)	missense	probably damaging	1.00
R1847:Tnn	UTSW	1	160,116,182 (GRCm38)	missense	possibly damaging	0.51
R2182:Tnn	UTSW	1	160,140,600 (GRCm38)	splice site	probably null
R2196:Tnn	UTSW	1	160,097,228 (GRCm38)	nonsense	probably null
R2225:Tnn	UTSW	1	160,147,465 (GRCm38)	missense	probably damaging	1.00
R2227:Tnn	UTSW	1	160,147,465 (GRCm38)	missense	probably damaging	1.00
R2286:Tnn	UTSW	1	160,110,509 (GRCm38)	missense	possibly damaging	0.89
R2850:Tnn	UTSW	1	160,139,287 (GRCm38)	missense	probably benign	0.00
R3110:Tnn	UTSW	1	160,116,286 (GRCm38)	missense	possibly damaging	0.71
R3111:Tnn	UTSW	1	160,107,055 (GRCm38)	missense	probably damaging	0.98
R3112:Tnn	UTSW	1	160,116,286 (GRCm38)	missense	possibly damaging	0.71
R3729:Tnn	UTSW	1	160,146,240 (GRCm38)	missense	probably damaging	1.00
R4183:Tnn	UTSW	1	160,097,355 (GRCm38)	missense	probably damaging	1.00
R4439:Tnn	UTSW	1	160,116,080 (GRCm38)	missense	probably benign
R4441:Tnn	UTSW	1	160,116,080 (GRCm38)	missense	probably benign
R4588:Tnn	UTSW	1	160,145,111 (GRCm38)	missense	probably benign	0.25
R4646:Tnn	UTSW	1	160,146,042 (GRCm38)	missense	probably benign
R4647:Tnn	UTSW	1	160,146,042 (GRCm38)	missense	probably benign
R4648:Tnn	UTSW	1	160,146,042 (GRCm38)	missense	probably benign
R4701:Tnn	UTSW	1	160,147,768 (GRCm38)	missense	possibly damaging	0.72
R4703:Tnn	UTSW	1	160,116,245 (GRCm38)	missense	possibly damaging	0.84
R4737:Tnn	UTSW	1	160,146,089 (GRCm38)	missense	probably damaging	1.00
R4801:Tnn	UTSW	1	160,145,033 (GRCm38)	missense	possibly damaging	0.90
R4802:Tnn	UTSW	1	160,145,033 (GRCm38)	missense	possibly damaging	0.90
R4868:Tnn	UTSW	1	160,130,873 (GRCm38)	missense	possibly damaging	0.64
R4977:Tnn	UTSW	1	160,120,618 (GRCm38)	missense	probably damaging	1.00
R5011:Tnn	UTSW	1	160,126,379 (GRCm38)	missense	possibly damaging	0.89
R5026:Tnn	UTSW	1	160,146,137 (GRCm38)	missense	probably benign	0.00
R5027:Tnn	UTSW	1	160,145,211 (GRCm38)	missense	probably damaging	1.00
R5049:Tnn	UTSW	1	160,140,738 (GRCm38)	missense	probably benign	0.00
R5119:Tnn	UTSW	1	160,120,552 (GRCm38)	missense	probably damaging	0.98
R5128:Tnn	UTSW	1	160,122,894 (GRCm38)	missense	probably damaging	0.98
R5234:Tnn	UTSW	1	160,144,999 (GRCm38)	missense	possibly damaging	0.95
R5398:Tnn	UTSW	1	160,147,522 (GRCm38)	missense	probably benign	0.00
R5424:Tnn	UTSW	1	160,122,702 (GRCm38)	missense	possibly damaging	0.69
R5452:Tnn	UTSW	1	160,110,261 (GRCm38)	missense	probably benign	0.13
R5466:Tnn	UTSW	1	160,120,536 (GRCm38)	missense	possibly damaging	0.93
R6022:Tnn	UTSW	1	160,110,358 (GRCm38)	missense	probably benign	0.00
R6062:Tnn	UTSW	1	160,098,278 (GRCm38)	missense	probably damaging	1.00
R6086:Tnn	UTSW	1	160,086,120 (GRCm38)	missense	probably damaging	1.00
R6132:Tnn	UTSW	1	160,146,071 (GRCm38)	missense	probably damaging	0.96
R6324:Tnn	UTSW	1	160,145,204 (GRCm38)	missense	probably damaging	0.96
R6455:Tnn	UTSW	1	160,114,719 (GRCm38)	missense	probably damaging	1.00
R6563:Tnn	UTSW	1	160,088,398 (GRCm38)	missense	probably damaging	1.00
R6650:Tnn	UTSW	1	160,114,583 (GRCm38)	missense	probably damaging	1.00
R6806:Tnn	UTSW	1	160,120,708 (GRCm38)	missense	possibly damaging	0.95
R6810:Tnn	UTSW	1	160,104,842 (GRCm38)	missense	probably damaging	1.00
R7157:Tnn	UTSW	1	160,126,377 (GRCm38)	nonsense	probably null
R7243:Tnn	UTSW	1	160,107,117 (GRCm38)	missense	probably benign	0.07
R7340:Tnn	UTSW	1	160,146,022 (GRCm38)	missense	probably damaging	0.98
R7472:Tnn	UTSW	1	160,110,347 (GRCm38)	missense	probably benign	0.12
R7502:Tnn	UTSW	1	160,110,359 (GRCm38)	missense	probably benign	0.00
R7527:Tnn	UTSW	1	160,118,504 (GRCm38)	missense	possibly damaging	0.51
R7608:Tnn	UTSW	1	160,088,414 (GRCm38)	nonsense	probably null
R7746:Tnn	UTSW	1	160,114,685 (GRCm38)	missense	probably damaging	0.97
R8096:Tnn	UTSW	1	160,122,841 (GRCm38)	missense	probably damaging	1.00
R8136:Tnn	UTSW	1	160,107,060 (GRCm38)	missense	probably damaging	0.96
R8191:Tnn	UTSW	1	160,125,518 (GRCm38)	missense	probably damaging	1.00
R8334:Tnn	UTSW	1	160,118,483 (GRCm38)	missense	probably damaging	1.00
R8335:Tnn	UTSW	1	160,118,483 (GRCm38)	missense	probably damaging	1.00
R8337:Tnn	UTSW	1	160,118,483 (GRCm38)	missense	probably damaging	1.00
R8338:Tnn	UTSW	1	160,118,483 (GRCm38)	missense	probably damaging	1.00
R8427:Tnn	UTSW	1	160,130,686 (GRCm38)	missense	probably damaging	0.99
R8433:Tnn	UTSW	1	160,097,220 (GRCm38)	missense	possibly damaging	0.81
R8479:Tnn	UTSW	1	160,122,827 (GRCm38)	missense	probably benign	0.06
R8505:Tnn	UTSW	1	160,146,023 (GRCm38)	missense	probably damaging	0.98
R8554:Tnn	UTSW	1	160,110,416 (GRCm38)	missense	probably damaging	1.00
R8717:Tnn	UTSW	1	160,116,276 (GRCm38)	missense	possibly damaging	0.51
R8850:Tnn	UTSW	1	160,110,244 (GRCm38)	critical splice donor site	probably null
R8928:Tnn	UTSW	1	160,125,529 (GRCm38)	missense	probably damaging	1.00
R9209:Tnn	UTSW	1	160,126,416 (GRCm38)	missense	probably benign	0.02
X0019:Tnn	UTSW	1	160,086,146 (GRCm38)	missense	probably damaging	1.00
Z1176:Tnn	UTSW	1	160,146,293 (GRCm38)	missense	probably benign
Z1177:Tnn	UTSW	1	160,126,527 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGCCCCTTCAGAGAGCATTG -3'
(R):5'- AGTTGGGAAAGCTCTTTATTAGCAG -3'

Sequencing Primer
(F):5'- GCATTGTTAGTGAAGACACCC -3'
(R):5'- CTGTCTCAGATGCAGACAGTG -3'

Posted On

2014-07-14