Incidental Mutation 'IGL01552:Tnc'
ID 90607
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 # IGL01552
Quality Score
Status
Chromosome 4
Chromosomal Location 63878022-63965252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63888645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1807 (V1807A)
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: V1716A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030056
Gene: ENSMUSG00000028364
AA Change: V1716A

DomainStartEndE-ValueType
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: V1807A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102995
Gene: ENSMUSG00000028364
AA Change: V1807A

DomainStartEndE-ValueType
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: V1716A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103000
Gene: ENSMUSG00000028364
AA Change: V1716A

DomainStartEndE-ValueType
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl8a T C 1: 135,080,606 (GRCm39) probably null Het
Bivm A G 1: 44,165,933 (GRCm39) N128D probably benign Het
Cfhr4 A G 1: 139,667,040 (GRCm39) Y412H probably damaging Het
Chil3 C A 3: 106,056,164 (GRCm39) G330V probably damaging Het
Dscaml1 A G 9: 45,359,206 (GRCm39) H155R probably damaging Het
Elapor1 A G 3: 108,388,628 (GRCm39) W252R possibly damaging Het
Etl4 T A 2: 20,783,000 (GRCm39) V687D probably damaging Het
Fbxw10 A T 11: 62,748,510 (GRCm39) probably null Het
Gfpt2 G T 11: 49,695,832 (GRCm39) E21* probably null Het
Gm10197 C T 19: 53,360,122 (GRCm39) V26I possibly damaging Het
Golim4 T C 3: 75,863,502 (GRCm39) E35G probably damaging Het
Igdcc4 A G 9: 65,029,784 (GRCm39) probably benign Het
Ino80d A G 1: 63,097,136 (GRCm39) probably benign Het
Ipo13 A G 4: 117,758,161 (GRCm39) M734T probably benign Het
Klk1b27 C T 7: 43,704,039 (GRCm39) L61F probably damaging Het
Lamtor5 T C 3: 107,186,324 (GRCm39) V31A probably benign Het
Lrp1 A T 10: 127,424,379 (GRCm39) L769* probably null Het
Nipsnap1 A T 11: 4,839,124 (GRCm39) S135C probably damaging Het
Or4k35 C A 2: 111,100,257 (GRCm39) G152C probably damaging Het
Pparg A T 6: 115,467,083 (GRCm39) H452L probably benign Het
Rab34 C T 11: 78,082,264 (GRCm39) A202V probably damaging Het
Ryr3 T A 2: 112,656,228 (GRCm39) T1923S possibly damaging Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Sh2d4b T C 14: 40,582,605 (GRCm39) Q195R probably benign Het
Sik2 C A 9: 50,828,822 (GRCm39) probably benign Het
Slc25a36 A G 9: 96,961,286 (GRCm39) V111A probably benign Het
Slco1a8 T C 6: 141,933,432 (GRCm39) K451R possibly damaging Het
Sptbn5 A T 2: 119,884,903 (GRCm39) probably benign Het
Tac2 G A 10: 127,561,970 (GRCm39) E25K possibly damaging Het
Top3b T C 16: 16,705,687 (GRCm39) probably benign Het
Zfp827 A G 8: 79,802,820 (GRCm39) E464G probably damaging Het
Other mutations in Tnc
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL00674:Tnc APN 4 63,883,844 (GRCm39) missense probably damaging 1.00
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
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 2013-12-09