Mutagenetix > Incidental Mutations

Incidental Mutation 'R6416:Tnc'

517914

Institutional Source

Beutler Lab

Gene Symbol

Tnc

Ensembl Gene

ENSMUSG00000028364

Gene Name

tenascin C

Synonyms

TN, TN-C, hexabrachion, tenascin-C, C130033P17Rik, cytotactin, Hxb

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63959785-64047015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64007816 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 909 (I909T)

Ref Sequence

ENSEMBL: ENSMUSP00000103000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030056] [ENSMUST00000107371] [ENSMUST00000107372] [ENSMUST00000107377]

Predicted Effect

probably benign
Transcript: ENSMUST00000030056
AA Change: I909T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030056
Gene: ENSMUSG00000028364
AA Change: I909T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	121	138	N/A	INTRINSIC
EGF	189	217	1.87e1	SMART
EGF_like	220	248	3.5e1	SMART
EGF	251	280	4.89e0	SMART
EGF	283	311	3.23e0	SMART
EGF_like	314	342	2.98e1	SMART
EGF	345	373	1.87e1	SMART
EGF	376	404	3.97e0	SMART
EGF	407	435	8.52e0	SMART
EGF	438	466	3.01e0	SMART
EGF	469	497	3.46e0	SMART
EGF	500	528	3.71e0	SMART
EGF	531	559	4.32e-1	SMART
EGF	562	590	1.84e1	SMART
EGF	593	621	3.82e-2	SMART
FN3	623	701	8.9e-8	SMART
FN3	712	794	1.53e-6	SMART
FN3	803	884	7.23e-8	SMART
FN3	893	974	1.71e-9	SMART
FN3	985	1062	2.56e-8	SMART
FN3	1074	1152	8.58e-1	SMART
FN3	1165	1245	2.72e-3	SMART
FN3	1256	1334	5.36e-2	SMART
FN3	1347	1427	4.93e0	SMART
FN3	1438	1517	3.4e-4	SMART
FN3	1528	1606	1.55e-7	SMART
FN3	1617	1694	1.53e-6	SMART
FN3	1705	1782	7.75e-8	SMART
FBG	1797	2007	4.08e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107371

SMART Domains

Protein: ENSMUSP00000102994
Gene: ENSMUSG00000028364

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	121	138	N/A	INTRINSIC
Pfam:hEGF	173	185	4e-4	PFAM
EGF	189	217	1.87e1	SMART
EGF_like	220	248	3.5e1	SMART
EGF	251	280	4.89e0	SMART
EGF	283	311	3.23e0	SMART
EGF_like	314	342	2.98e1	SMART
EGF	345	373	1.87e1	SMART
EGF	376	404	3.97e0	SMART
EGF	407	435	8.52e0	SMART
EGF	438	466	3.01e0	SMART
EGF	469	497	3.46e0	SMART
EGF	500	528	3.71e0	SMART
EGF	531	559	4.32e-1	SMART
EGF	562	590	1.84e1	SMART
EGF	593	621	3.82e-2	SMART
FN3	623	701	8.9e-8	SMART
FN3	712	794	1.53e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107372
AA Change: I909T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102995
Gene: ENSMUSG00000028364
AA Change: I909T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	121	138	N/A	INTRINSIC
EGF	189	217	1.87e1	SMART
EGF_like	220	248	3.5e1	SMART
EGF	251	280	4.89e0	SMART
EGF	283	311	3.23e0	SMART
EGF_like	314	342	2.98e1	SMART
EGF	345	373	1.87e1	SMART
EGF	376	404	3.97e0	SMART
EGF	407	435	8.52e0	SMART
EGF	438	466	3.01e0	SMART
EGF	469	497	3.46e0	SMART
EGF	500	528	3.71e0	SMART
EGF	531	559	4.32e-1	SMART
EGF	562	590	1.84e1	SMART
EGF	593	621	3.82e-2	SMART
FN3	623	701	8.9e-8	SMART
FN3	712	794	1.53e-6	SMART
FN3	803	884	7.23e-8	SMART
FN3	893	974	1.71e-9	SMART
FN3	985	1062	2.56e-8	SMART
FN3	1074	1152	8.58e-1	SMART
FN3	1165	1245	2.72e-3	SMART
FN3	1256	1334	5.36e-2	SMART
FN3	1347	1427	4.93e0	SMART
FN3	1438	1517	2.75e0	SMART
FN3	1529	1608	3.4e-4	SMART
FN3	1619	1697	1.55e-7	SMART
FN3	1708	1785	1.53e-6	SMART
FN3	1796	1873	7.75e-8	SMART
FBG	1888	2098	4.08e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107377
AA Change: I909T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103000
Gene: ENSMUSG00000028364
AA Change: I909T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	121	138	N/A	INTRINSIC
EGF	189	217	1.87e1	SMART
EGF_like	220	248	3.5e1	SMART
EGF	251	280	4.89e0	SMART
EGF	283	311	3.23e0	SMART
EGF_like	314	342	2.98e1	SMART
EGF	345	373	1.87e1	SMART
EGF	376	404	3.97e0	SMART
EGF	407	435	8.52e0	SMART
EGF	438	466	3.01e0	SMART
EGF	469	497	3.46e0	SMART
EGF	500	528	3.71e0	SMART
EGF	531	559	4.32e-1	SMART
EGF	562	590	1.84e1	SMART
EGF	593	621	3.82e-2	SMART
FN3	623	701	8.9e-8	SMART
FN3	712	794	1.53e-6	SMART
FN3	803	884	7.23e-8	SMART
FN3	893	974	1.71e-9	SMART
FN3	985	1062	2.56e-8	SMART
FN3	1074	1152	8.58e-1	SMART
FN3	1165	1245	2.72e-3	SMART
FN3	1256	1334	5.36e-2	SMART
FN3	1347	1427	4.93e0	SMART
FN3	1438	1517	3.4e-4	SMART
FN3	1528	1606	1.55e-7	SMART
FN3	1617	1694	1.53e-6	SMART
FN3	1705	1782	7.75e-8	SMART
FBG	1797	2007	4.08e-124	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141428

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,707,891	R6L	unknown	Het
Anxa11	A	G	14: 25,874,270	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,308,239	M1K	probably null	Het
Atl2	G	A	17: 79,850,223	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378	T1965A	probably benign	Het
Ftl1	A	T	7: 45,459,210	D41E	probably benign	Het
Garem2	G	A	5: 30,116,737	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080	Y291*	probably null	Het
Olfr1238	C	A	2: 89,406,522	A186S	possibly damaging	Het
Olfr331	T	C	11: 58,502,340	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr952	T	A	9: 39,426,891	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,022,448	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169		probably null	Het
Pi4ka	T	C	16: 17,358,322	I418V	probably benign	Het
Pih1d2	T	C	9: 50,618,609	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287		probably null	Het
Rbak	G	T	5: 143,176,552	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139	S150P	probably damaging	Het
Tjp1	C	T	7: 65,313,205	D995N	possibly damaging	Het
Tmem135	T	A	7: 89,147,794	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981	T114A	probably benign	Het
Trcg1	A	G	9: 57,241,330	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,356,031	*487K	probably null	Het
Unc79	T	A	12: 103,131,646	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639	V194G	probably damaging	Het
Zfp260	A	T	7: 30,104,810	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,593,720	H292L	possibly damaging	Het

Other mutations in Tnc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Tnc	APN	4	64016824	splice site	probably benign
IGL00531:Tnc	APN	4	63971153	splice site	probably benign
IGL00674:Tnc	APN	4	63965607	missense	probably damaging	1.00
IGL01015:Tnc	APN	4	64017334	missense	probably benign	0.19
IGL01090:Tnc	APN	4	64000080	missense	probably damaging	1.00
IGL01310:Tnc	APN	4	64013077	missense	probably benign	0.03
IGL01331:Tnc	APN	4	63982875	missense	probably damaging	0.99
IGL01393:Tnc	APN	4	64014054	splice site	probably benign
IGL01411:Tnc	APN	4	64000722	missense	probably damaging	0.96
IGL01472:Tnc	APN	4	64006419	missense	probably benign	0.00
IGL01552:Tnc	APN	4	63970408	missense	probably damaging	1.00
IGL01661:Tnc	APN	4	63970307	splice site	probably benign
IGL01669:Tnc	APN	4	64000701	missense	probably damaging	1.00
IGL01912:Tnc	APN	4	64008740	missense	probably damaging	1.00
IGL02028:Tnc	APN	4	63966672	splice site	probably benign
IGL02100:Tnc	APN	4	64000161	missense	possibly damaging	0.84
IGL02549:Tnc	APN	4	64015072	missense	probably damaging	1.00
IGL02642:Tnc	APN	4	63965579	splice site	probably benign
IGL02712:Tnc	APN	4	63975256	missense	probably damaging	1.00
IGL02876:Tnc	APN	4	64015101	missense	possibly damaging	0.56
IGL02886:Tnc	APN	4	64000107	missense	probably damaging	0.96
IGL02972:Tnc	APN	4	63976478	missense	probably benign	0.11
IGL03073:Tnc	APN	4	63971224	missense	possibly damaging	0.58
IGL03116:Tnc	APN	4	64014033	missense	probably damaging	1.00
IGL03181:Tnc	APN	4	63967306	missense	possibly damaging	0.95
IGL03358:Tnc	APN	4	64017615	nonsense	probably null
tancredo	UTSW	4	63993297	nonsense	probably null
P0020:Tnc	UTSW	4	64008857	missense	possibly damaging	0.63
PIT4377001:Tnc	UTSW	4	64017736	missense	probably damaging	1.00
PIT4403001:Tnc	UTSW	4	63964667	missense	probably damaging	1.00
PIT4468001:Tnc	UTSW	4	63964667	missense	probably damaging	1.00
R0243:Tnc	UTSW	4	63970420	missense	probably damaging	0.98
R0362:Tnc	UTSW	4	64017442	missense	probably damaging	1.00
R0410:Tnc	UTSW	4	64007694	missense	probably benign	0.00
R0420:Tnc	UTSW	4	64000159	missense	probably benign	0.00
R0540:Tnc	UTSW	4	64020455	missense	probably damaging	1.00
R0650:Tnc	UTSW	4	64008734	missense	probably benign	0.00
R1019:Tnc	UTSW	4	63962082	missense	probably damaging	1.00
R1102:Tnc	UTSW	4	64020468	missense	probably benign	0.05
R1126:Tnc	UTSW	4	64018120	missense	probably damaging	0.99
R1141:Tnc	UTSW	4	64013994	missense	probably damaging	1.00
R1142:Tnc	UTSW	4	64013994	missense	probably damaging	1.00
R1307:Tnc	UTSW	4	64008859	missense	probably damaging	0.98
R1322:Tnc	UTSW	4	64013994	missense	probably damaging	1.00
R1414:Tnc	UTSW	4	63965695	splice site	probably benign
R1470:Tnc	UTSW	4	63966574	missense	probably damaging	1.00
R1470:Tnc	UTSW	4	63966574	missense	probably damaging	1.00
R1499:Tnc	UTSW	4	63964754	missense	probably benign	0.15
R1506:Tnc	UTSW	4	64007684	missense	possibly damaging	0.90
R1597:Tnc	UTSW	4	64006384	missense	probably benign
R1750:Tnc	UTSW	4	63972735	missense	probably damaging	1.00
R1765:Tnc	UTSW	4	64013994	missense	probably damaging	1.00
R1783:Tnc	UTSW	4	64018096	missense	probably damaging	0.98
R1808:Tnc	UTSW	4	63999931	missense	probably damaging	1.00
R1903:Tnc	UTSW	4	64000062	missense	probably benign	0.00
R1932:Tnc	UTSW	4	63993025	critical splice donor site	probably null
R1941:Tnc	UTSW	4	64014964	missense	probably damaging	1.00
R1983:Tnc	UTSW	4	63984630	missense	possibly damaging	0.95
R2024:Tnc	UTSW	4	63964621	missense	probably damaging	1.00
R2075:Tnc	UTSW	4	63995666	missense	possibly damaging	0.94
R2327:Tnc	UTSW	4	63975238	missense	possibly damaging	0.78
R2444:Tnc	UTSW	4	64014963	missense	probably damaging	1.00
R2982:Tnc	UTSW	4	64020519	missense	possibly damaging	0.81
R3874:Tnc	UTSW	4	64008710	missense	probably damaging	1.00
R4110:Tnc	UTSW	4	64014951	missense	probably damaging	1.00
R4360:Tnc	UTSW	4	64016924	missense	probably benign	0.35
R4371:Tnc	UTSW	4	63970351	missense	probably damaging	1.00
R4434:Tnc	UTSW	4	64007829	missense	possibly damaging	0.91
R4438:Tnc	UTSW	4	64007829	missense	possibly damaging	0.91
R4570:Tnc	UTSW	4	63995672	missense	probably damaging	0.99
R4595:Tnc	UTSW	4	63995745	missense	probably damaging	1.00
R4749:Tnc	UTSW	4	63995639	missense	possibly damaging	0.56
R4756:Tnc	UTSW	4	63967343	missense	probably damaging	0.99
R4824:Tnc	UTSW	4	64017620	nonsense	probably null
R4957:Tnc	UTSW	4	63976556	missense	probably damaging	1.00
R4977:Tnc	UTSW	4	64006248	missense	possibly damaging	0.82
R5001:Tnc	UTSW	4	63984489	missense	probably damaging	1.00
R5001:Tnc	UTSW	4	64000062	missense	probably benign	0.16
R5015:Tnc	UTSW	4	64006502	missense	probably damaging	1.00
R5049:Tnc	UTSW	4	64017986	missense	probably damaging	1.00
R5066:Tnc	UTSW	4	63975229	missense	probably damaging	0.96
R5073:Tnc	UTSW	4	64020411	missense	probably damaging	1.00
R5116:Tnc	UTSW	4	63967215	critical splice donor site	probably null
R5195:Tnc	UTSW	4	63967252	missense	probably damaging	1.00
R5200:Tnc	UTSW	4	63971278	missense	probably damaging	1.00
R5221:Tnc	UTSW	4	63993297	nonsense	probably null
R5237:Tnc	UTSW	4	63962096	missense	probably damaging	1.00
R5265:Tnc	UTSW	4	63993206	missense	probably benign	0.00
R5275:Tnc	UTSW	4	63964730	nonsense	probably null
R5346:Tnc	UTSW	4	64008655	missense	probably benign
R5409:Tnc	UTSW	4	63966536	missense	probably damaging	1.00
R5409:Tnc	UTSW	4	64007417	missense	probably damaging	1.00
R5469:Tnc	UTSW	4	64013925	splice site	probably null
R5518:Tnc	UTSW	4	64017679	missense	probably damaging	1.00
R5560:Tnc	UTSW	4	64008709	missense	probably damaging	1.00
R5588:Tnc	UTSW	4	64006422	missense	possibly damaging	0.57
R5686:Tnc	UTSW	4	64007730	unclassified	probably null
R5686:Tnc	UTSW	4	64008795	missense	possibly damaging	0.78
R5837:Tnc	UTSW	4	64013214	missense	probably damaging	1.00
R5976:Tnc	UTSW	4	64018166	missense	probably benign	0.17
R6156:Tnc	UTSW	4	63970352	missense	probably damaging	1.00
R6182:Tnc	UTSW	4	64008796	missense	probably damaging	0.99
R6360:Tnc	UTSW	4	64000733	missense	probably damaging	1.00
R6778:Tnc	UTSW	4	63995598	missense	probably benign	0.12
R6798:Tnc	UTSW	4	63965604	missense	probably benign	0.02
R6799:Tnc	UTSW	4	63965604	missense	probably benign	0.02
R6943:Tnc	UTSW	4	63982745	missense	probably damaging	0.97
R7027:Tnc	UTSW	4	63984589	missense	probably benign	0.02
R7183:Tnc	UTSW	4	64013128	missense	probably damaging	1.00
R7204:Tnc	UTSW	4	63971155	splice site	probably null
R7317:Tnc	UTSW	4	63972722	missense	probably damaging	0.99
R7323:Tnc	UTSW	4	63971232	missense	probably damaging	0.96
R7327:Tnc	UTSW	4	63964762	splice site	probably null
R7382:Tnc	UTSW	4	64014043	nonsense	probably null
R7399:Tnc	UTSW	4	64020657	start gained	probably benign
R7479:Tnc	UTSW	4	64017628	missense	possibly damaging	0.95
R7585:Tnc	UTSW	4	64020411	missense	probably damaging	1.00
R8004:Tnc	UTSW	4	63984657	missense	probably benign	0.04
S24628:Tnc	UTSW	4	64018012	missense	probably damaging	1.00
Z1177:Tnc	UTSW	4	63960544	critical splice acceptor site	probably null
Z1177:Tnc	UTSW	4	64007426	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAATAGGGACATATGCTCCTGTC -3'
(R):5'- ATCAGTTACCAAGACAGGGGC -3'

Sequencing Primer
(F):5'- GACATATGCTCCTGTCCTTTCGAGG -3'
(R):5'- TTACCAAGACAGGGGCTTCGG -3'

Posted On

2018-05-24