Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00674:Tnc'

14519

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnc

Ensembl Gene

ENSMUSG00000028364

Gene Name

tenascin C

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00674

Quality Score

Status

Chromosome

Chromosomal Location

63878022-63965252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63883844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1958 (D1958V)

Ref Sequence

ENSEMBL: ENSMUSP00000102995 (fasta)

Gene Model

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

AlphaFold

Q80YX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030056
AA Change: D1867V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030056
Gene: ENSMUSG00000028364
AA Change: D1867V

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 damaging
Transcript: ENSMUST00000107372
AA Change: D1958V

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

SMART Domains

Protein: ENSMUSP00000102995
Gene: ENSMUSG00000028364
AA Change: D1958V

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 damaging
Transcript: ENSMUST00000107377
AA Change: D1867V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103000
Gene: ENSMUSG00000028364
AA Change: D1867V

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

Coding Region Coverage

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	T	A	15: 57,971,782 (GRCm39)	Q365L	possibly damaging	Het
Cd2ap	A	T	17: 43,119,676 (GRCm39)	N492K	probably benign	Het
Fam114a1	T	A	5: 65,137,347 (GRCm39)	S97T	probably benign	Het
Fbxw8	C	T	5: 118,233,658 (GRCm39)	M324I	possibly damaging	Het
Gpx6	A	G	13: 21,497,978 (GRCm39)		probably benign	Het
Kbtbd3	A	G	9: 4,329,949 (GRCm39)	T108A	probably benign	Het
Lrrd1	T	C	5: 3,899,773 (GRCm39)	I26T	possibly damaging	Het
Mark1	C	T	1: 184,644,303 (GRCm39)	G454S	probably benign	Het
Mrpl20	T	C	4: 155,893,041 (GRCm39)	F91L	probably benign	Het
Nt5c3b	A	T	11: 100,323,735 (GRCm39)		probably benign	Het
Osbpl2	T	C	2: 179,792,051 (GRCm39)	Y252H	possibly damaging	Het
Pard3	A	G	8: 128,115,159 (GRCm39)	N626D	probably damaging	Het
Pbrm1	C	T	14: 30,840,733 (GRCm39)	P1612S	probably damaging	Het
Prl3d3	T	C	13: 27,343,114 (GRCm39)		probably null	Het
Sall4	T	C	2: 168,597,700 (GRCm39)	D380G	probably damaging	Het
Sema3b	A	C	9: 107,481,240 (GRCm39)		probably null	Het
Spred1	C	T	2: 117,008,339 (GRCm39)	P415L	probably damaging	Het
Tnfsf15	A	G	4: 63,652,483 (GRCm39)		probably benign	Het
Usp24	T	A	4: 106,229,876 (GRCm39)		probably benign	Het

Other mutations in Tnc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Tnc	APN	4	63,935,061 (GRCm39)	splice site	probably benign
IGL00531:Tnc	APN	4	63,889,390 (GRCm39)	splice site	probably benign
IGL01015:Tnc	APN	4	63,935,571 (GRCm39)	missense	probably benign	0.19
IGL01090:Tnc	APN	4	63,918,317 (GRCm39)	missense	probably damaging	1.00
IGL01310:Tnc	APN	4	63,931,314 (GRCm39)	missense	probably benign	0.03
IGL01331:Tnc	APN	4	63,901,112 (GRCm39)	missense	probably damaging	0.99
IGL01393:Tnc	APN	4	63,932,291 (GRCm39)	splice site	probably benign
IGL01411:Tnc	APN	4	63,918,959 (GRCm39)	missense	probably damaging	0.96
IGL01472:Tnc	APN	4	63,924,656 (GRCm39)	missense	probably benign	0.00
IGL01552:Tnc	APN	4	63,888,645 (GRCm39)	missense	probably damaging	1.00
IGL01661:Tnc	APN	4	63,888,544 (GRCm39)	splice site	probably benign
IGL01669:Tnc	APN	4	63,918,938 (GRCm39)	missense	probably damaging	1.00
IGL01912:Tnc	APN	4	63,926,977 (GRCm39)	missense	probably damaging	1.00
IGL02028:Tnc	APN	4	63,884,909 (GRCm39)	splice site	probably benign
IGL02100:Tnc	APN	4	63,918,398 (GRCm39)	missense	possibly damaging	0.84
IGL02549:Tnc	APN	4	63,933,309 (GRCm39)	missense	probably damaging	1.00
IGL02642:Tnc	APN	4	63,883,816 (GRCm39)	splice site	probably benign
IGL02712:Tnc	APN	4	63,893,493 (GRCm39)	missense	probably damaging	1.00
IGL02876:Tnc	APN	4	63,933,338 (GRCm39)	missense	possibly damaging	0.56
IGL02886:Tnc	APN	4	63,918,344 (GRCm39)	missense	probably damaging	0.96
IGL02972:Tnc	APN	4	63,894,715 (GRCm39)	missense	probably benign	0.11
IGL03073:Tnc	APN	4	63,889,461 (GRCm39)	missense	possibly damaging	0.58
IGL03116:Tnc	APN	4	63,932,270 (GRCm39)	missense	probably damaging	1.00
IGL03181:Tnc	APN	4	63,885,543 (GRCm39)	missense	possibly damaging	0.95
IGL03358:Tnc	APN	4	63,935,852 (GRCm39)	nonsense	probably null
tancredo	UTSW	4	63,911,534 (GRCm39)	nonsense	probably null
BB009:Tnc	UTSW	4	63,926,857 (GRCm39)	missense	probably benign
BB019:Tnc	UTSW	4	63,926,857 (GRCm39)	missense	probably benign
P0020:Tnc	UTSW	4	63,927,094 (GRCm39)	missense	possibly damaging	0.63
PIT4377001:Tnc	UTSW	4	63,935,973 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Tnc	UTSW	4	63,882,904 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Tnc	UTSW	4	63,882,904 (GRCm39)	missense	probably damaging	1.00
R0243:Tnc	UTSW	4	63,888,657 (GRCm39)	missense	probably damaging	0.98
R0362:Tnc	UTSW	4	63,935,679 (GRCm39)	missense	probably damaging	1.00
R0410:Tnc	UTSW	4	63,925,931 (GRCm39)	missense	probably benign	0.00
R0420:Tnc	UTSW	4	63,918,396 (GRCm39)	missense	probably benign	0.00
R0540:Tnc	UTSW	4	63,938,692 (GRCm39)	missense	probably damaging	1.00
R0650:Tnc	UTSW	4	63,926,971 (GRCm39)	missense	probably benign	0.00
R1019:Tnc	UTSW	4	63,880,319 (GRCm39)	missense	probably damaging	1.00
R1102:Tnc	UTSW	4	63,938,705 (GRCm39)	missense	probably benign	0.05
R1126:Tnc	UTSW	4	63,936,357 (GRCm39)	missense	probably damaging	0.99
R1141:Tnc	UTSW	4	63,932,231 (GRCm39)	missense	probably damaging	1.00
R1142:Tnc	UTSW	4	63,932,231 (GRCm39)	missense	probably damaging	1.00
R1307:Tnc	UTSW	4	63,927,096 (GRCm39)	missense	probably damaging	0.98
R1322:Tnc	UTSW	4	63,932,231 (GRCm39)	missense	probably damaging	1.00
R1414:Tnc	UTSW	4	63,883,932 (GRCm39)	splice site	probably benign
R1470:Tnc	UTSW	4	63,884,811 (GRCm39)	missense	probably damaging	1.00
R1470:Tnc	UTSW	4	63,884,811 (GRCm39)	missense	probably damaging	1.00
R1499:Tnc	UTSW	4	63,882,991 (GRCm39)	missense	probably benign	0.15
R1506:Tnc	UTSW	4	63,925,921 (GRCm39)	missense	possibly damaging	0.90
R1597:Tnc	UTSW	4	63,924,621 (GRCm39)	missense	probably benign
R1750:Tnc	UTSW	4	63,890,972 (GRCm39)	missense	probably damaging	1.00
R1765:Tnc	UTSW	4	63,932,231 (GRCm39)	missense	probably damaging	1.00
R1783:Tnc	UTSW	4	63,936,333 (GRCm39)	missense	probably damaging	0.98
R1808:Tnc	UTSW	4	63,918,168 (GRCm39)	missense	probably damaging	1.00
R1903:Tnc	UTSW	4	63,918,299 (GRCm39)	missense	probably benign	0.00
R1932:Tnc	UTSW	4	63,911,262 (GRCm39)	critical splice donor site	probably null
R1941:Tnc	UTSW	4	63,933,201 (GRCm39)	missense	probably damaging	1.00
R1983:Tnc	UTSW	4	63,902,867 (GRCm39)	missense	possibly damaging	0.95
R2024:Tnc	UTSW	4	63,882,858 (GRCm39)	missense	probably damaging	1.00
R2075:Tnc	UTSW	4	63,913,903 (GRCm39)	missense	possibly damaging	0.94
R2327:Tnc	UTSW	4	63,893,475 (GRCm39)	missense	possibly damaging	0.78
R2444:Tnc	UTSW	4	63,933,200 (GRCm39)	missense	probably damaging	1.00
R2982:Tnc	UTSW	4	63,938,756 (GRCm39)	missense	possibly damaging	0.81
R3874:Tnc	UTSW	4	63,926,947 (GRCm39)	missense	probably damaging	1.00
R4110:Tnc	UTSW	4	63,933,188 (GRCm39)	missense	probably damaging	1.00
R4360:Tnc	UTSW	4	63,935,161 (GRCm39)	missense	probably benign	0.35
R4371:Tnc	UTSW	4	63,888,588 (GRCm39)	missense	probably damaging	1.00
R4434:Tnc	UTSW	4	63,926,066 (GRCm39)	missense	possibly damaging	0.91
R4438:Tnc	UTSW	4	63,926,066 (GRCm39)	missense	possibly damaging	0.91
R4570:Tnc	UTSW	4	63,913,909 (GRCm39)	missense	probably damaging	0.99
R4595:Tnc	UTSW	4	63,913,982 (GRCm39)	missense	probably damaging	1.00
R4749:Tnc	UTSW	4	63,913,876 (GRCm39)	missense	possibly damaging	0.56
R4756:Tnc	UTSW	4	63,885,580 (GRCm39)	missense	probably damaging	0.99
R4824:Tnc	UTSW	4	63,935,857 (GRCm39)	nonsense	probably null
R4957:Tnc	UTSW	4	63,894,793 (GRCm39)	missense	probably damaging	1.00
R4977:Tnc	UTSW	4	63,924,485 (GRCm39)	missense	possibly damaging	0.82
R5001:Tnc	UTSW	4	63,918,299 (GRCm39)	missense	probably benign	0.16
R5001:Tnc	UTSW	4	63,902,726 (GRCm39)	missense	probably damaging	1.00
R5015:Tnc	UTSW	4	63,924,739 (GRCm39)	missense	probably damaging	1.00
R5049:Tnc	UTSW	4	63,936,223 (GRCm39)	missense	probably damaging	1.00
R5066:Tnc	UTSW	4	63,893,466 (GRCm39)	missense	probably damaging	0.96
R5073:Tnc	UTSW	4	63,938,648 (GRCm39)	missense	probably damaging	1.00
R5116:Tnc	UTSW	4	63,885,452 (GRCm39)	critical splice donor site	probably null
R5195:Tnc	UTSW	4	63,885,489 (GRCm39)	missense	probably damaging	1.00
R5200:Tnc	UTSW	4	63,889,515 (GRCm39)	missense	probably damaging	1.00
R5221:Tnc	UTSW	4	63,911,534 (GRCm39)	nonsense	probably null
R5237:Tnc	UTSW	4	63,880,333 (GRCm39)	missense	probably damaging	1.00
R5265:Tnc	UTSW	4	63,911,443 (GRCm39)	missense	probably benign	0.00
R5275:Tnc	UTSW	4	63,882,967 (GRCm39)	nonsense	probably null
R5346:Tnc	UTSW	4	63,926,892 (GRCm39)	missense	probably benign
R5409:Tnc	UTSW	4	63,925,654 (GRCm39)	missense	probably damaging	1.00
R5409:Tnc	UTSW	4	63,884,773 (GRCm39)	missense	probably damaging	1.00
R5469:Tnc	UTSW	4	63,932,162 (GRCm39)	splice site	probably null
R5518:Tnc	UTSW	4	63,935,916 (GRCm39)	missense	probably damaging	1.00
R5560:Tnc	UTSW	4	63,926,946 (GRCm39)	missense	probably damaging	1.00
R5588:Tnc	UTSW	4	63,924,659 (GRCm39)	missense	possibly damaging	0.57
R5686:Tnc	UTSW	4	63,925,967 (GRCm39)	splice site	probably null
R5686:Tnc	UTSW	4	63,927,032 (GRCm39)	missense	possibly damaging	0.78
R5837:Tnc	UTSW	4	63,931,451 (GRCm39)	missense	probably damaging	1.00
R5976:Tnc	UTSW	4	63,936,403 (GRCm39)	missense	probably benign	0.17
R6156:Tnc	UTSW	4	63,888,589 (GRCm39)	missense	probably damaging	1.00
R6182:Tnc	UTSW	4	63,927,033 (GRCm39)	missense	probably damaging	0.99
R6360:Tnc	UTSW	4	63,918,970 (GRCm39)	missense	probably damaging	1.00
R6416:Tnc	UTSW	4	63,926,053 (GRCm39)	missense	probably benign	0.05
R6778:Tnc	UTSW	4	63,913,835 (GRCm39)	missense	probably benign	0.12
R6798:Tnc	UTSW	4	63,883,841 (GRCm39)	missense	probably benign	0.02
R6799:Tnc	UTSW	4	63,883,841 (GRCm39)	missense	probably benign	0.02
R6943:Tnc	UTSW	4	63,900,982 (GRCm39)	missense	probably damaging	0.97
R7027:Tnc	UTSW	4	63,902,826 (GRCm39)	missense	probably benign	0.02
R7183:Tnc	UTSW	4	63,931,365 (GRCm39)	missense	probably damaging	1.00
R7204:Tnc	UTSW	4	63,889,392 (GRCm39)	splice site	probably null
R7317:Tnc	UTSW	4	63,890,959 (GRCm39)	missense	probably damaging	0.99
R7323:Tnc	UTSW	4	63,889,469 (GRCm39)	missense	probably damaging	0.96
R7327:Tnc	UTSW	4	63,882,999 (GRCm39)	splice site	probably null
R7382:Tnc	UTSW	4	63,932,280 (GRCm39)	nonsense	probably null
R7399:Tnc	UTSW	4	63,938,894 (GRCm39)	start gained	probably benign
R7479:Tnc	UTSW	4	63,935,865 (GRCm39)	missense	possibly damaging	0.95
R7585:Tnc	UTSW	4	63,938,648 (GRCm39)	missense	probably damaging	1.00
R7932:Tnc	UTSW	4	63,926,857 (GRCm39)	missense	probably benign
R7947:Tnc	UTSW	4	63,935,580 (GRCm39)	missense	probably damaging	1.00
R7974:Tnc	UTSW	4	63,918,961 (GRCm39)	missense	possibly damaging	0.84
R7991:Tnc	UTSW	4	63,926,983 (GRCm39)	missense	probably benign	0.42
R8004:Tnc	UTSW	4	63,902,894 (GRCm39)	missense	probably benign	0.04
R8080:Tnc	UTSW	4	63,894,706 (GRCm39)	missense	possibly damaging	0.52
R8109:Tnc	UTSW	4	63,927,000 (GRCm39)	missense	probably benign	0.11
R8145:Tnc	UTSW	4	63,935,716 (GRCm39)	missense	probably benign
R8340:Tnc	UTSW	4	63,926,036 (GRCm39)	missense	probably damaging	1.00
R8360:Tnc	UTSW	4	63,885,511 (GRCm39)	missense	probably benign	0.00
R8671:Tnc	UTSW	4	63,935,683 (GRCm39)	missense	probably damaging	1.00
R8691:Tnc	UTSW	4	63,880,313 (GRCm39)	missense	probably damaging	1.00
R8759:Tnc	UTSW	4	63,924,501 (GRCm39)	missense	possibly damaging	0.86
R8864:Tnc	UTSW	4	63,911,296 (GRCm39)	missense	probably damaging	0.98
R8927:Tnc	UTSW	4	63,925,595 (GRCm39)	missense	probably damaging	1.00
R8928:Tnc	UTSW	4	63,925,595 (GRCm39)	missense	probably damaging	1.00
R8949:Tnc	UTSW	4	63,927,087 (GRCm39)	missense	probably damaging	1.00
R8956:Tnc	UTSW	4	63,918,970 (GRCm39)	missense	probably damaging	1.00
R9016:Tnc	UTSW	4	63,935,331 (GRCm39)	missense	probably benign	0.23
R9049:Tnc	UTSW	4	63,918,247 (GRCm39)	missense	possibly damaging	0.83
R9097:Tnc	UTSW	4	63,888,622 (GRCm39)	missense	possibly damaging	0.62
R9114:Tnc	UTSW	4	63,890,973 (GRCm39)	missense	probably benign	0.03
R9151:Tnc	UTSW	4	63,938,686 (GRCm39)	missense	possibly damaging	0.46
R9488:Tnc	UTSW	4	63,913,942 (GRCm39)	missense	probably damaging	0.99
R9537:Tnc	UTSW	4	63,884,821 (GRCm39)	missense	probably damaging	0.99
R9666:Tnc	UTSW	4	63,926,045 (GRCm39)	missense	probably damaging	1.00
R9700:Tnc	UTSW	4	63,933,186 (GRCm39)	missense	probably damaging	0.99
R9703:Tnc	UTSW	4	63,889,412 (GRCm39)	missense	probably benign	0.00
R9771:Tnc	UTSW	4	63,925,600 (GRCm39)	missense	probably damaging	1.00
S24628:Tnc	UTSW	4	63,936,249 (GRCm39)	missense	probably damaging	1.00
Z1177:Tnc	UTSW	4	63,925,663 (GRCm39)	nonsense	probably null
Z1177:Tnc	UTSW	4	63,878,781 (GRCm39)	critical splice acceptor site	probably null

Posted On

2012-12-06