Mutagenetix > Incidental Mutation

Incidental Mutation 'R2225:Tnn'

239649

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

040226-MU

Accession Numbers

Essential gene?

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

Stock #

R2225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160147465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 131 (C131S)

Ref Sequence

ENSEMBL: ENSMUSP00000115685 (fasta)

Gene Model

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

AlphaFold

Q80Z71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039178
AA Change: C131S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: C131S

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: C131S

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

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: C131S

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

0.2983

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

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

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,836,367 (GRCm38)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,518,260 (GRCm38)	T293A	probably damaging	Het
Aen	C	A	7: 78,902,451 (GRCm38)	T15K	probably benign	Het
Aggf1	A	G	13: 95,370,846 (GRCm38)	S144P	probably damaging	Het
Akap9	A	T	5: 4,077,271 (GRCm38)	R3706S	probably damaging	Het
Btd	A	G	14: 31,667,060 (GRCm38)	D246G	probably benign	Het
Ccdc33	A	G	9: 58,082,022 (GRCm38)	S123P	probably damaging	Het
Cep152	T	C	2: 125,581,784 (GRCm38)	E899G	probably damaging	Het
Cpsf6	A	T	10: 117,363,036 (GRCm38)		probably benign	Het
Crybg3	A	G	16: 59,554,678 (GRCm38)	I2071T	probably damaging	Het
Cwc22	T	A	2: 77,908,151 (GRCm38)		probably benign	Het
Ddah2	T	A	17: 35,060,211 (GRCm38)	I16N	probably damaging	Het
Dld	T	G	12: 31,341,449 (GRCm38)	M123L	probably benign	Het
Eif5b	A	T	1: 38,019,223 (GRCm38)	K202I	unknown	Het
Gm6430	T	C	1: 97,025,716 (GRCm38)		noncoding transcript	Het
Hdac9	C	T	12: 34,407,802 (GRCm38)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,232,636 (GRCm38)	E52G	probably damaging	Het
Hspa4	C	T	11: 53,286,933 (GRCm38)	V117M	probably benign	Het
Htra4	T	C	8: 25,025,720 (GRCm38)	D434G	probably benign	Het
Itgb3	A	G	11: 104,665,510 (GRCm38)	M726V	probably benign	Het
Itih1	A	G	14: 30,929,577 (GRCm38)	V886A	possibly damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,064,088 (GRCm38)		probably null	Het
Kpna1	G	A	16: 36,031,221 (GRCm38)	A392T	probably damaging	Het
Limk1	G	T	5: 134,661,556 (GRCm38)		probably null	Het
Lonrf1	T	C	8: 36,236,098 (GRCm38)	D308G	probably damaging	Het
Muc4	G	A	16: 32,766,942 (GRCm38)	C2719Y	possibly damaging	Het
Muc4	A	T	16: 32,755,891 (GRCm38)		probably benign	Het
Mvb12b	G	A	2: 33,840,199 (GRCm38)	T60I	possibly damaging	Het
Myh2	C	T	11: 67,193,729 (GRCm38)	T1698M	probably benign	Het
Naalad2	A	T	9: 18,376,533 (GRCm38)	V267E	possibly damaging	Het
Nkpd1	A	T	7: 19,519,820 (GRCm38)	Y37F	probably benign	Het
Olfr167	T	C	16: 19,515,246 (GRCm38)	H130R	probably benign	Het
Olfr952	T	C	9: 39,426,619 (GRCm38)	I151V	probably benign	Het
Olfr975	T	C	9: 39,950,537 (GRCm38)	K78R	possibly damaging	Het
Plekhg2	G	A	7: 28,360,335 (GRCm38)	P1190S	probably benign	Het
Reck	A	G	4: 43,922,837 (GRCm38)	T371A	probably benign	Het
Rnf185	T	C	11: 3,432,445 (GRCm38)	D44G	probably damaging	Het
Rpgrip1l	T	C	8: 91,221,467 (GRCm38)	E1196G	probably benign	Het
Rundc1	A	G	11: 101,431,344 (GRCm38)		probably benign	Het
Sf3b3	T	C	8: 110,814,573 (GRCm38)	Y970C	probably damaging	Het
Sfxn1	A	G	13: 54,085,517 (GRCm38)	T20A	possibly damaging	Het
Shprh	T	C	10: 11,162,235 (GRCm38)		probably benign	Het
Spata31d1a	T	A	13: 59,703,715 (GRCm38)	I200L	probably benign	Het
Srsf6	G	A	2: 162,931,699 (GRCm38)	S10N	probably damaging	Het
Tbxa2r	A	G	10: 81,333,149 (GRCm38)	Y224C	probably benign	Het
Tlr5	A	G	1: 182,972,376 (GRCm38)		probably benign	Het
Tmem270	A	G	5: 134,906,638 (GRCm38)	L21P	probably damaging	Het
Tmtc2	T	C	10: 105,370,357 (GRCm38)	E359G	probably benign	Het
Tnnt2	A	G	1: 135,843,791 (GRCm38)		probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Tph1	A	G	7: 46,665,174 (GRCm38)		probably null	Het
Wiz	C	T	17: 32,356,925 (GRCm38)	V836M	probably damaging	Het
Zfp451	T	A	1: 33,770,907 (GRCm38)		probably benign	Het
Zfp738	A	G	13: 67,670,312 (GRCm38)	F520S	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
R1925:Tnn	UTSW	1	160,097,229 (GRCm38)	missense	probably damaging	1.00
R2182:Tnn	UTSW	1	160,140,600 (GRCm38)	splice site	probably null
R2196:Tnn	UTSW	1	160,097,228 (GRCm38)	nonsense	probably null
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'- CACCACTCATTGTCACCTGG -3'
(R):5'- TGGGACATCACTCTTGGCTC -3'

Sequencing Primer
(F):5'- CCATGTTCTTAAACTGTAGAGCTG -3'
(R):5'- ATCACTCTTGGCTCCCGGG -3'

Posted On

2014-10-15