Mutagenetix > Incidental Mutation

Incidental Mutation 'R8334:Tnn'

644497

Institutional Source

Beutler Lab

Gene Symbol

Tnn

Ensembl Gene

ENSMUSG00000026725

Gene Name

tenascin N

Synonyms

Tnw, tenascin-W

MMRRC Submission

Accession Numbers

Genbank: NM_177839.3; Ensembl: ENSMUST00000039178

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R8334 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 160118483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 922 (G922R)

Ref Sequence

ENSEMBL: ENSMUSP00000039452 (fasta)

Gene Model

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

AlphaFold

Q80Z71

Predicted Effect

probably damaging
Transcript: ENSMUST00000039178
AA Change: G922R

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

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: G922R

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 null
Transcript: ENSMUST00000131919

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

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

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,444,118	E483G	probably benign	Het
Abca8a	A	T	11: 110,068,824	S696T	probably damaging	Het
Abhd12	T	C	2: 150,858,453	I75V	probably benign	Het
Adamts9	T	C	6: 92,937,244		probably null	Het
Ap2a1	C	T	7: 44,904,711	V499I	possibly damaging	Het
Arhgef16	T	A	4: 154,282,767	K394*	probably null	Het
Armc2	A	G	10: 41,923,765	F699S	probably damaging	Het
Atat1	C	T	17: 35,909,258		probably null	Het
Atm	A	G	9: 53,522,273	S226P	probably benign	Het
Bcas3	A	G	11: 85,576,811	T687A	possibly damaging	Het
Bmp2k	T	C	5: 97,027,894	M78T	possibly damaging	Het
Brinp3	T	A	1: 146,902,053	L746H	probably damaging	Het
Capn8	G	A	1: 182,611,105		probably null	Het
Ccdc154	T	A	17: 25,171,607	F602I	probably damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,841,272		probably null	Het
Chd3	A	G	11: 69,350,796	F1504L	probably damaging	Het
Cpsf1	A	T	15: 76,603,587	N77K	probably benign	Het
Crybb3	T	A	5: 113,075,979	Q188L	possibly damaging	Het
Dnah8	T	A	17: 30,769,831	H3258Q	probably benign	Het
Dnajb6	C	T	5: 29,781,240	R269W	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Ech1	A	G	7: 28,831,823	I279V	probably benign	Het
Ehbp1	C	A	11: 22,007,170	R1173L	probably damaging	Het
Ehd4	T	C	2: 120,137,064	E83G	probably damaging	Het
Epha7	A	G	4: 28,938,777	E544G	probably benign	Het
Esp23	A	G	17: 39,073,904	V67A	possibly damaging	Het
Etl4	T	C	2: 20,781,046	V726A	probably damaging	Het
Fbxo39	G	A	11: 72,317,644	W274*	probably null	Het
Filip1l	T	C	16: 57,570,147	I366T	probably benign	Het
Gm4841	T	C	18: 60,270,982	D13G	probably benign	Het
Gm6205	T	G	5: 94,682,776	N44K	probably benign	Het
Gtpbp2	T	A	17: 46,166,442	F411Y	possibly damaging	Het
Kmt5b	G	T	19: 3,814,795	V620L	probably benign	Het
Lrrc24	T	C	15: 76,716,000	Q313R	probably benign	Het
Lsm1	A	G	8: 25,802,019	E108G	probably benign	Het
Macf1	T	C	4: 123,432,108	K5201E	possibly damaging	Het
Mki67	G	T	7: 135,696,516	T2263K	probably damaging	Het
Mroh1	G	A	15: 76,446,556	G1156S	probably benign	Het
Ncor1	A	T	11: 62,383,244	M190K	probably damaging	Het
Nsmce3	A	G	7: 64,872,719	V67A	probably damaging	Het
Nuggc	T	C	14: 65,645,029	V741A	probably benign	Het
Olfm3	G	T	3: 115,122,557	L379F	probably damaging	Het
Olfr1274-ps	T	C	2: 90,400,933	S91P	probably benign	Het
Olfr935	T	A	9: 38,994,593	I281F	probably benign	Het
Pcdhb13	A	G	18: 37,444,800	T744A	probably damaging	Het
Plek	T	C	11: 16,983,220	T298A	probably benign	Het
Pou5f2	A	G	13: 78,025,273	I111M	probably benign	Het
Pou6f2	C	T	13: 18,125,406	R556H	probably damaging	Het
Rcor1	G	A	12: 111,093,095	A148T		Het
Rnh1	A	G	7: 141,168,631	V11A	probably benign	Het
Rrnad1	C	T	3: 87,927,749	V31I	possibly damaging	Het
Slc35f1	T	C	10: 53,108,148	F335L	possibly damaging	Het
Srrm2	T	C	17: 23,808,356	V22A	unknown	Het
St7	A	T	6: 17,934,221	H534L	probably damaging	Het
Swi5	T	A	2: 32,280,451		probably benign	Het
Syf2	T	A	4: 134,931,275	H40Q	probably benign	Het
Tgtp2	G	A	11: 49,058,894	L284F	probably benign	Het
Trbc1	A	C	6: 41,539,112		probably benign	Het
Trim33	A	T	3: 103,353,829	T1115S	probably benign	Het
Ttc22	C	A	4: 106,638,918		probably null	Het
Ttn	C	T	2: 76,808,030	A13969T	probably damaging	Het
Tuba4a	T	C	1: 75,217,301	D74G	probably benign	Het
Ube3c	T	A	5: 29,590,884	D90E	probably benign	Het
Ubr7	T	C	12: 102,758,138	V37A	probably damaging	Het
Vmn2r28	A	C	7: 5,484,060	C535G	probably damaging	Het
Wdr36	A	G	18: 32,859,293	T628A	possibly damaging	Het
Whrn	C	T	4: 63,494,810	V142M	probably damaging	Het
Wnk2	A	T	13: 49,050,482		probably null	Het
Xkr7	C	T	2: 153,054,963	T579I	probably damaging	Het

Other mutations in Tnn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Tnn	APN	1	160125451	missense	possibly damaging	0.65
IGL00433:Tnn	APN	1	160098206	splice site	probably benign
IGL00858:Tnn	APN	1	160088392	critical splice donor site	probably null
IGL00939:Tnn	APN	1	160147530	missense	probably damaging	1.00
IGL01569:Tnn	APN	1	160120554	missense	possibly damaging	0.51
IGL01591:Tnn	APN	1	160125574	missense	probably damaging	1.00
IGL01628:Tnn	APN	1	160147602	missense	possibly damaging	0.89
IGL01811:Tnn	APN	1	160107135	missense	probably damaging	1.00
IGL01813:Tnn	APN	1	160088438	missense	probably damaging	1.00
IGL02340:Tnn	APN	1	160145205	missense	probably benign	0.00
IGL02488:Tnn	APN	1	160140593	missense	probably benign	0.21
IGL02535:Tnn	APN	1	160122652	splice site	probably null
IGL02563:Tnn	APN	1	160114553	missense	probably damaging	1.00
IGL02572:Tnn	APN	1	160086107	missense	probably damaging	1.00
IGL02740:Tnn	APN	1	160140777	splice site	probably benign
IGL02818:Tnn	APN	1	160116278	missense	possibly damaging	0.86
IGL03284:Tnn	APN	1	160125452	missense	probably benign	0.01
1mM(1):Tnn	UTSW	1	160097341	missense	probably damaging	1.00
PIT4305001:Tnn	UTSW	1	160086077	missense	possibly damaging	0.91
R0023:Tnn	UTSW	1	160104928	missense	probably benign	0.00
R0234:Tnn	UTSW	1	160088466	missense	probably damaging	1.00
R0234:Tnn	UTSW	1	160088466	missense	probably damaging	1.00
R0316:Tnn	UTSW	1	160120567	missense	possibly damaging	0.93
R0492:Tnn	UTSW	1	160120757	missense	probably damaging	0.99
R0547:Tnn	UTSW	1	160116337	intron	probably benign
R1067:Tnn	UTSW	1	160125398	missense	probably damaging	1.00
R1563:Tnn	UTSW	1	160125415	missense	probably damaging	1.00
R1565:Tnn	UTSW	1	160097265	missense	probably damaging	1.00
R1615:Tnn	UTSW	1	160118408	missense	possibly damaging	0.93
R1637:Tnn	UTSW	1	160147600	missense	probably damaging	1.00
R1707:Tnn	UTSW	1	160145144	missense	probably damaging	1.00
R1758:Tnn	UTSW	1	160147584	missense	possibly damaging	0.61
R1797:Tnn	UTSW	1	160140688	missense	probably damaging	1.00
R1847:Tnn	UTSW	1	160116182	missense	possibly damaging	0.51
R1925:Tnn	UTSW	1	160097229	missense	probably damaging	1.00
R2182:Tnn	UTSW	1	160140600	splice site	probably null
R2196:Tnn	UTSW	1	160097228	nonsense	probably null
R2225:Tnn	UTSW	1	160147465	missense	probably damaging	1.00
R2227:Tnn	UTSW	1	160147465	missense	probably damaging	1.00
R2286:Tnn	UTSW	1	160110509	missense	possibly damaging	0.89
R2850:Tnn	UTSW	1	160139287	missense	probably benign	0.00
R3110:Tnn	UTSW	1	160116286	missense	possibly damaging	0.71
R3111:Tnn	UTSW	1	160107055	missense	probably damaging	0.98
R3112:Tnn	UTSW	1	160116286	missense	possibly damaging	0.71
R3729:Tnn	UTSW	1	160146240	missense	probably damaging	1.00
R4183:Tnn	UTSW	1	160097355	missense	probably damaging	1.00
R4439:Tnn	UTSW	1	160116080	missense	probably benign
R4441:Tnn	UTSW	1	160116080	missense	probably benign
R4588:Tnn	UTSW	1	160145111	missense	probably benign	0.25
R4646:Tnn	UTSW	1	160146042	missense	probably benign
R4647:Tnn	UTSW	1	160146042	missense	probably benign
R4648:Tnn	UTSW	1	160146042	missense	probably benign
R4701:Tnn	UTSW	1	160147768	missense	possibly damaging	0.72
R4703:Tnn	UTSW	1	160116245	missense	possibly damaging	0.84
R4737:Tnn	UTSW	1	160146089	missense	probably damaging	1.00
R4801:Tnn	UTSW	1	160145033	missense	possibly damaging	0.90
R4802:Tnn	UTSW	1	160145033	missense	possibly damaging	0.90
R4868:Tnn	UTSW	1	160130873	missense	possibly damaging	0.64
R4977:Tnn	UTSW	1	160120618	missense	probably damaging	1.00
R5011:Tnn	UTSW	1	160126379	missense	possibly damaging	0.89
R5026:Tnn	UTSW	1	160146137	missense	probably benign	0.00
R5027:Tnn	UTSW	1	160145211	missense	probably damaging	1.00
R5049:Tnn	UTSW	1	160140738	missense	probably benign	0.00
R5119:Tnn	UTSW	1	160120552	missense	probably damaging	0.98
R5128:Tnn	UTSW	1	160122894	missense	probably damaging	0.98
R5234:Tnn	UTSW	1	160144999	missense	possibly damaging	0.95
R5398:Tnn	UTSW	1	160147522	missense	probably benign	0.00
R5424:Tnn	UTSW	1	160122702	missense	possibly damaging	0.69
R5452:Tnn	UTSW	1	160110261	missense	probably benign	0.13
R5466:Tnn	UTSW	1	160120536	missense	possibly damaging	0.93
R6022:Tnn	UTSW	1	160110358	missense	probably benign	0.00
R6062:Tnn	UTSW	1	160098278	missense	probably damaging	1.00
R6086:Tnn	UTSW	1	160086120	missense	probably damaging	1.00
R6132:Tnn	UTSW	1	160146071	missense	probably damaging	0.96
R6324:Tnn	UTSW	1	160145204	missense	probably damaging	0.96
R6455:Tnn	UTSW	1	160114719	missense	probably damaging	1.00
R6563:Tnn	UTSW	1	160088398	missense	probably damaging	1.00
R6650:Tnn	UTSW	1	160114583	missense	probably damaging	1.00
R6806:Tnn	UTSW	1	160120708	missense	possibly damaging	0.95
R6810:Tnn	UTSW	1	160104842	missense	probably damaging	1.00
R7157:Tnn	UTSW	1	160126377	nonsense	probably null
R7243:Tnn	UTSW	1	160107117	missense	probably benign	0.07
R7340:Tnn	UTSW	1	160146022	missense	probably damaging	0.98
R7472:Tnn	UTSW	1	160110347	missense	probably benign	0.12
R7502:Tnn	UTSW	1	160110359	missense	probably benign	0.00
R7527:Tnn	UTSW	1	160118504	missense	possibly damaging	0.51
R7608:Tnn	UTSW	1	160088414	nonsense	probably null
R7746:Tnn	UTSW	1	160114685	missense	probably damaging	0.97
R8096:Tnn	UTSW	1	160122841	missense	probably damaging	1.00
R8136:Tnn	UTSW	1	160107060	missense	probably damaging	0.96
R8191:Tnn	UTSW	1	160125518	missense	probably damaging	1.00
R8335:Tnn	UTSW	1	160118483	missense	probably damaging	1.00
R8337:Tnn	UTSW	1	160118483	missense	probably damaging	1.00
R8338:Tnn	UTSW	1	160118483	missense	probably damaging	1.00
R8427:Tnn	UTSW	1	160130686	missense	probably damaging	0.99
R8433:Tnn	UTSW	1	160097220	missense	possibly damaging	0.81
R8479:Tnn	UTSW	1	160122827	missense	probably benign	0.06
R8505:Tnn	UTSW	1	160146023	missense	probably damaging	0.98
R8554:Tnn	UTSW	1	160110416	missense	probably damaging	1.00
R8717:Tnn	UTSW	1	160116276	missense	possibly damaging	0.51
R8850:Tnn	UTSW	1	160110244	critical splice donor site	probably null
R8928:Tnn	UTSW	1	160125529	missense	probably damaging	1.00
R9209:Tnn	UTSW	1	160126416	missense	probably benign	0.02
X0019:Tnn	UTSW	1	160086146	missense	probably damaging	1.00
Z1176:Tnn	UTSW	1	160146293	missense	probably benign
Z1177:Tnn	UTSW	1	160126527	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCTTCCAGGAGCAGAGAAAG -3'
(R):5'- CCCAATGGTCTCAGTTTCTGG -3'

Sequencing Primer
(F):5'- TGAAATACGTCACATGCTCAGG -3'
(R):5'- CTCAGTTTCTGGAGACTGTTACTAG -3'

Posted On

2020-09-02