Mutagenetix > Incidental Mutations

Incidental Mutation 'R7502:Tnn'

581512

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

Is this an essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

R7502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160085029-160153580 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160110359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1196 (D1196G)

Ref Sequence

ENSEMBL: ENSMUSP00000039452 (fasta)

Gene Model

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

AlphaFold

Q80Z71

Predicted Effect

probably benign
Transcript: ENSMUST00000039178
AA Change: D1196G

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

SMART Domains

Protein: ENSMUSP00000039452
Gene: ENSMUSG00000026725
AA Change: D1196G

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: D932G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000115685
Gene: ENSMUSG00000026725
AA Change: D932G

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	C	12: 55,304,421	Y172H	probably damaging	Het
Acan	A	G	7: 79,094,203	T661A	probably damaging	Het
Actrt2	T	C	4: 154,666,926	Y251C	probably benign	Het
Adat3	T	A	10: 80,606,421	V31D	probably damaging	Het
Adgrf4	T	C	17: 42,669,657	H179R	possibly damaging	Het
Ahcyl1	A	T	3: 107,671,197	Y241*	probably null	Het
Anks1	C	A	17: 28,008,140	T589K	possibly damaging	Het
Arhgap15	A	G	2: 43,780,618	T5A	probably benign	Het
Cacna1e	A	T	1: 154,468,988	M1130K	probably null	Het
Ccdc121	G	A	1: 181,510,878	Q170*	probably null	Het
Ccdc173	A	T	2: 69,776,144	D309E	probably benign	Het
Ceacam18	A	T	7: 43,636,874	D57V	probably damaging	Het
Celf1	C	T	2: 91,004,755	Q194*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Cep170	T	C	1: 176,756,029	D163G	probably damaging	Het
Cftr	T	C	6: 18,214,296	F157S	probably damaging	Het
Chchd3	T	C	6: 32,968,229	E114G	probably damaging	Het
Cntnap2	T	A	6: 46,484,029	S666R	possibly damaging	Het
Col6a5	C	T	9: 105,875,876	V2266I	probably benign	Het
Ctr9	A	G	7: 111,033,926	D127G	probably benign	Het
Ctsl	A	T	13: 64,367,068	F141I	probably damaging	Het
Dcpp1	T	A	17: 23,882,641	Y121*	probably null	Het
Ddx42	T	C	11: 106,247,739	V788A	probably benign	Het
Ehd4	T	C	2: 120,091,393	I461V	probably benign	Het
Elp6	C	A	9: 110,305,308	L5I	possibly damaging	Het
Faap20	T	C	4: 155,250,336	S2P		Het
Fam98b	A	C	2: 117,263,863	Y218S	probably damaging	Het
Fbxl4	T	A	4: 22,376,655	D30E	probably benign	Het
Fcrlb	T	C	1: 170,908,641	T189A	probably damaging	Het
Gfpt1	A	G	6: 87,066,689	D302G	probably benign	Het
Gzmg	T	G	14: 56,156,827	E203D	not run	Het
Hrasls	T	C	16: 29,228,167	V146A	probably benign	Het
Hsph1	A	C	5: 149,630,373	V210G	probably damaging	Het
Il20rb	A	T	9: 100,468,426	M138K	probably damaging	Het
Itpr1	A	T	6: 108,383,678	E688D	probably benign	Het
Jmjd1c	T	G	10: 67,232,015	S1585A	probably damaging	Het
Kcnk3	A	T	5: 30,622,718	T371S	possibly damaging	Het
Kif11	T	A	19: 37,409,807	S694T	possibly damaging	Het
Kpna7	T	A	5: 145,005,921	H85L	probably benign	Het
Lipf	A	T	19: 33,976,606	I366F	probably damaging	Het
Lrrc27	A	G	7: 139,214,832	H37R	probably benign	Het
Mfsd7a	G	A	5: 108,443,780		probably null	Het
Mki67	T	C	7: 135,700,783	T841A	possibly damaging	Het
Mtss1	A	G	15: 58,948,361	S120P	probably damaging	Het
Nav1	A	G	1: 135,469,666	W922R	probably damaging	Het
Nwd1	A	G	8: 72,707,393	E1206G	probably damaging	Het
Obscn	T	C	11: 58,994,809	S7933G	unknown	Het
Olfr117	T	A	17: 37,660,231	Y34F	probably damaging	Het
Olfr1263	T	C	2: 90,015,011	L27S	probably benign	Het
Olfr267	T	C	4: 58,785,648	I25V	probably benign	Het
Olfr409-ps1	T	C	11: 74,317,184	V53A	probably benign	Het
Olfr71	T	C	4: 43,706,316	H84R	probably damaging	Het
Otog	A	T	7: 46,298,615	I162F	probably damaging	Het
Paf1	G	A	7: 28,395,868	V153I	possibly damaging	Het
Pcdhga11	T	A	18: 37,756,501	D187E	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitrm1	G	T	13: 6,560,622	R424L	probably damaging	Het
Pla2g4e	T	A	2: 120,174,338		probably null	Het
Prrc2a	T	C	17: 35,162,310	N61S	unknown	Het
Ror1	T	A	4: 100,333,630	D61E	probably benign	Het
Ryr3	G	A	2: 112,712,361	P3168S	probably benign	Het
Serinc4	T	A	2: 121,453,769	I289F	probably damaging	Het
Sez6l	A	T	5: 112,475,481	L68H	possibly damaging	Het
Sez6l2	A	G	7: 126,961,743	E460G	probably benign	Het
Sh3tc1	C	T	5: 35,706,062	G927D	probably damaging	Het
Slc22a27	G	C	19: 7,926,382	T130S	probably damaging	Het
Slc38a8	C	A	8: 119,501,081	A37S	possibly damaging	Het
Slc40a1	T	C	1: 45,918,974	N100D	probably damaging	Het
Snx30	T	C	4: 59,894,567	F382L	possibly damaging	Het
Sox1	A	G	8: 12,396,913	N185D	possibly damaging	Het
Spsb1	C	T	4: 149,906,928	R61H	possibly damaging	Het
Sptbn2	T	C	19: 4,748,082	V1945A	probably benign	Het
St18	T	A	1: 6,827,970	N665K	probably benign	Het
Syne1	A	G	10: 5,333,446	S1540P	probably damaging	Het
Syne2	G	A	12: 76,094,326	V1331M	probably damaging	Het
Tfap2c	T	C	2: 172,551,719	S185P	probably benign	Het
Tnfsf8	T	A	4: 63,851,161	D71V	probably damaging	Het
Ttll8	A	G	15: 88,933,436		probably null	Het
Tubgcp3	A	G	8: 12,641,207	F444L	probably damaging	Het
Txndc11	G	A	16: 11,087,878	P596L	probably benign	Het
Ubr4	C	T	4: 139,412,672	P1189S	possibly damaging	Het
Usp32	T	C	11: 85,022,898	D869G	possibly damaging	Het
Vmn1r202	G	T	13: 22,502,018	N76K	probably damaging	Het
Wfdc6a	C	T	2: 164,579,841	M132I	probably benign	Het
Wnk2	A	T	13: 49,147,244		probably null	Het
Xbp1	A	G	11: 5,524,683		probably null	Het
Zfp551	A	T	7: 12,415,798	Y561*	probably null	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
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
R8334:Tnn	UTSW	1	160118483	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'- TGGAGAACCACTTTGGAAAACATC -3'
(R):5'- TCCATGGTTCTAAACTCAGCC -3'

Sequencing Primer
(F):5'- GAACCACTTTGGAAAACATCTTCAG -3'
(R):5'- ATGGTTCTAAACTCAGCCTTTTC -3'

Posted On

2019-10-17