Incidental Mutation 'R1497:Tanc2'
ID 168981
Institutional Source Beutler Lab
Gene Symbol Tanc2
Ensembl Gene ENSMUSG00000053580
Gene Name tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Synonyms 5730590C14Rik, 3526402J09Rik
MMRRC Submission 039548-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1497 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 105480812-105820130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105812963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1469 (V1469D)
Ref Sequence ENSEMBL: ENSMUSP00000097904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100330]
AlphaFold A2A690
Predicted Effect probably benign
Transcript: ENSMUST00000089485
SMART Domains Protein: ENSMUSP00000086912
Gene: ENSMUSG00000053580

DomainStartEndE-ValueType
ANK 35 63 1.16e3 SMART
ANK 78 107 3.31e-1 SMART
ANK 111 140 7.71e-2 SMART
ANK 144 173 6.12e-5 SMART
ANK 177 206 8.99e-3 SMART
ANK 210 239 5.71e-5 SMART
ANK 243 272 2.11e2 SMART
Blast:TPR 289 322 3e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000100330
AA Change: V1469D

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: V1469D

DomainStartEndE-ValueType
low complexity region 32 50 N/A INTRINSIC
low complexity region 129 152 N/A INTRINSIC
low complexity region 362 375 N/A INTRINSIC
low complexity region 436 447 N/A INTRINSIC
low complexity region 823 834 N/A INTRINSIC
ANK 846 878 2.08e3 SMART
ANK 882 913 2.97e2 SMART
ANK 917 946 5.75e-1 SMART
ANK 950 979 8.62e1 SMART
ANK 990 1018 1.16e3 SMART
ANK 1033 1062 3.31e-1 SMART
ANK 1066 1095 7.71e-2 SMART
ANK 1099 1128 6.12e-5 SMART
ANK 1132 1161 8.99e-3 SMART
ANK 1165 1194 5.71e-5 SMART
ANK 1198 1227 2.11e2 SMART
TPR 1244 1277 3.89e1 SMART
TPR 1291 1324 3.61e-2 SMART
TPR 1325 1358 2.82e-4 SMART
low complexity region 1369 1406 N/A INTRINSIC
low complexity region 1533 1539 N/A INTRINSIC
low complexity region 1787 1802 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000146162
AA Change: V611D
SMART Domains Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580
AA Change: V611D

DomainStartEndE-ValueType
ANK 15 46 2.97e2 SMART
ANK 50 79 5.75e-1 SMART
ANK 83 112 8.62e1 SMART
ANK 123 151 1.16e3 SMART
ANK 166 195 3.31e-1 SMART
ANK 199 228 7.71e-2 SMART
ANK 232 261 6.12e-5 SMART
ANK 265 294 8.99e-3 SMART
ANK 298 327 5.71e-5 SMART
ANK 331 360 3.44e1 SMART
TPR 387 420 3.89e1 SMART
TPR 434 467 3.61e-2 SMART
TPR 468 501 2.82e-4 SMART
low complexity region 512 549 N/A INTRINSIC
low complexity region 676 682 N/A INTRINSIC
low complexity region 930 945 N/A INTRINSIC
Meta Mutation Damage Score 0.0630 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 99% (79/80)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap vector die prior to E12. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,864,647 (GRCm39) probably benign Het
Abhd17a A G 10: 80,420,164 (GRCm39) probably benign Het
Acacb G A 5: 114,334,868 (GRCm39) E646K probably damaging Het
Afap1l2 T C 19: 56,916,743 (GRCm39) M262V probably benign Het
Anapc7 T A 5: 122,573,578 (GRCm39) probably benign Het
Car5b T A X: 162,771,400 (GRCm39) K188N probably benign Het
Caskin1 C T 17: 24,723,515 (GRCm39) R768* probably null Het
Casp8ap2 T C 4: 32,639,938 (GRCm39) S331P probably benign Het
Ccdc68 C T 18: 70,093,585 (GRCm39) probably benign Het
Cd44 A T 2: 102,673,300 (GRCm39) probably null Het
Celsr3 A G 9: 108,726,064 (GRCm39) S3090G probably benign Het
Clasp1 A T 1: 118,479,788 (GRCm39) M1023L probably benign Het
Clec16a T C 16: 10,453,123 (GRCm39) F608S probably damaging Het
Col7a1 A C 9: 108,807,893 (GRCm39) E2531A unknown Het
Ctc1 T A 11: 68,913,387 (GRCm39) C128S probably benign Het
Cyp2d41-ps T C 15: 82,666,223 (GRCm39) noncoding transcript Het
Cyp2j6 T A 4: 96,419,898 (GRCm39) I278F probably damaging Het
Dhtkd1 A T 2: 5,908,924 (GRCm39) S723R probably damaging Het
Dhx8 A G 11: 101,626,213 (GRCm39) probably benign Het
Dnah17 A T 11: 118,005,059 (GRCm39) L775Q probably damaging Het
Dnah8 C A 17: 30,971,049 (GRCm39) T2701K probably damaging Het
Eml3 T A 19: 8,913,733 (GRCm39) S424R probably damaging Het
Epm2aip1 A G 9: 111,101,315 (GRCm39) E96G possibly damaging Het
Ezr T C 17: 7,010,107 (GRCm39) H314R probably benign Het
Fam193b G T 13: 55,702,247 (GRCm39) H43Q probably damaging Het
Fam217a T A 13: 35,095,195 (GRCm39) N340I probably damaging Het
Fcrl1 A T 3: 87,292,109 (GRCm39) Q89H probably damaging Het
Flg2 A T 3: 93,127,076 (GRCm39) H1996L unknown Het
Gabpb1 C T 2: 126,481,169 (GRCm39) V327M possibly damaging Het
Gtf3c3 A G 1: 54,477,098 (GRCm39) V36A probably benign Het
Hspg2 A G 4: 137,275,407 (GRCm39) N2739S probably damaging Het
Hyal1 A G 9: 107,455,194 (GRCm39) probably null Het
Ipo13 T C 4: 117,761,856 (GRCm39) D448G probably benign Het
Kcnq5 T C 1: 21,472,610 (GRCm39) D860G possibly damaging Het
Kif13b A G 14: 64,973,715 (GRCm39) N355S probably damaging Het
Kmt2c T A 5: 25,519,513 (GRCm39) H2199L possibly damaging Het
Magi1 A G 6: 93,724,310 (GRCm39) F235S probably damaging Het
Maml1 A C 11: 50,156,534 (GRCm39) M547R possibly damaging Het
Mapk7 T C 11: 61,384,689 (GRCm39) K6E possibly damaging Het
Mbd5 T A 2: 49,147,393 (GRCm39) N534K possibly damaging Het
Mcat G A 15: 83,433,453 (GRCm39) Q34* probably null Het
Mcu T A 10: 59,284,670 (GRCm39) D180V probably damaging Het
Mettl21c G T 1: 44,048,951 (GRCm39) P199T probably benign Het
Mndal A T 1: 173,700,441 (GRCm39) S177T probably benign Het
Mpeg1 G T 19: 12,438,611 (GRCm39) C23F probably benign Het
Mup15 T A 4: 61,356,471 (GRCm39) Y98F probably benign Het
Myh8 T C 11: 67,180,638 (GRCm39) S625P probably benign Het
Nipsnap2 T C 5: 129,830,282 (GRCm39) probably benign Het
Nlrp4e T C 7: 23,019,797 (GRCm39) S95P probably benign Het
Or1e19 T A 11: 73,316,653 (GRCm39) D52V possibly damaging Het
Or4a66 T C 2: 88,531,106 (GRCm39) D189G probably damaging Het
Otop2 A G 11: 115,220,675 (GRCm39) probably null Het
Pcnx4 G C 12: 72,621,174 (GRCm39) G998A probably benign Het
Pnkd C A 1: 74,390,681 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,573,204 (GRCm39) V701E probably benign Het
Ryr2 A G 13: 11,616,727 (GRCm39) I3897T probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Sdk2 G A 11: 113,784,401 (GRCm39) probably benign Het
Serpinb5 A T 1: 106,803,782 (GRCm39) Q156L probably benign Het
Setdb1 A T 3: 95,234,778 (GRCm39) V975D probably benign Het
Shc1 A G 3: 89,335,752 (GRCm39) *470W probably null Het
Sik3 T A 9: 46,113,320 (GRCm39) V587E probably damaging Het
Sik3 C A 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Spata7 T C 12: 98,635,120 (GRCm39) I384T probably damaging Het
Tasor2 T C 13: 3,620,409 (GRCm39) E2164G probably damaging Het
Tdrd5 A T 1: 156,083,372 (GRCm39) N888K probably benign Het
Tex22 T C 12: 113,039,000 (GRCm39) S34P probably benign Het
Tmed6 T C 8: 107,790,754 (GRCm39) T98A probably benign Het
Trim66 G A 7: 109,083,826 (GRCm39) P141L probably benign Het
Trpa1 T C 1: 14,956,036 (GRCm39) I778V probably benign Het
Urb2 T A 8: 124,754,816 (GRCm39) H174Q probably damaging Het
Usb1 T C 8: 96,065,325 (GRCm39) V59A probably benign Het
Vmn1r11 T A 6: 57,114,394 (GRCm39) N19K probably damaging Het
Vmn1r185 A T 7: 26,311,219 (GRCm39) F95L probably benign Het
Vmn1r206 C T 13: 22,805,160 (GRCm39) V16M probably benign Het
Vmn2r92 T C 17: 18,387,625 (GRCm39) V210A probably benign Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Zfp768 T A 7: 126,942,733 (GRCm39) Q465L probably damaging Het
Zfp804b T A 5: 6,821,105 (GRCm39) N617Y probably damaging Het
Other mutations in Tanc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Tanc2 APN 11 105,814,046 (GRCm39) missense probably benign 0.28
IGL00688:Tanc2 APN 11 105,689,516 (GRCm39) missense probably damaging 1.00
IGL00709:Tanc2 APN 11 105,689,621 (GRCm39) missense probably damaging 1.00
IGL01013:Tanc2 APN 11 105,515,891 (GRCm39) missense probably damaging 0.96
IGL01141:Tanc2 APN 11 105,777,300 (GRCm39) splice site probably benign
IGL01386:Tanc2 APN 11 105,777,207 (GRCm39) missense probably damaging 0.99
IGL01433:Tanc2 APN 11 105,701,348 (GRCm39) missense possibly damaging 0.75
IGL01562:Tanc2 APN 11 105,670,895 (GRCm39) missense probably benign 0.00
IGL01979:Tanc2 APN 11 105,667,746 (GRCm39) missense probably benign
IGL02104:Tanc2 APN 11 105,670,959 (GRCm39) unclassified probably benign
IGL02434:Tanc2 APN 11 105,670,868 (GRCm39) missense probably benign 0.14
IGL02534:Tanc2 APN 11 105,725,994 (GRCm39) missense probably damaging 1.00
IGL02568:Tanc2 APN 11 105,667,777 (GRCm39) missense probably benign 0.00
IGL03279:Tanc2 APN 11 105,803,918 (GRCm39) splice site probably null
R0595:Tanc2 UTSW 11 105,605,003 (GRCm39) splice site probably null
R1131:Tanc2 UTSW 11 105,725,828 (GRCm39) missense probably damaging 1.00
R1320:Tanc2 UTSW 11 105,777,270 (GRCm39) missense probably damaging 1.00
R1487:Tanc2 UTSW 11 105,814,460 (GRCm39) missense probably damaging 0.99
R1692:Tanc2 UTSW 11 105,748,326 (GRCm39) missense probably benign
R1712:Tanc2 UTSW 11 105,790,606 (GRCm39) missense probably benign
R1793:Tanc2 UTSW 11 105,515,859 (GRCm39) critical splice acceptor site probably null
R1812:Tanc2 UTSW 11 105,777,212 (GRCm39) missense probably benign 0.01
R1905:Tanc2 UTSW 11 105,813,689 (GRCm39) missense possibly damaging 0.61
R1959:Tanc2 UTSW 11 105,801,121 (GRCm39) missense probably damaging 1.00
R1962:Tanc2 UTSW 11 105,689,558 (GRCm39) missense probably benign 0.14
R2122:Tanc2 UTSW 11 105,786,775 (GRCm39) missense probably damaging 1.00
R2174:Tanc2 UTSW 11 105,801,135 (GRCm39) missense probably benign 0.00
R2341:Tanc2 UTSW 11 105,725,877 (GRCm39) missense probably benign 0.09
R2497:Tanc2 UTSW 11 105,564,319 (GRCm39) critical splice donor site probably null
R3438:Tanc2 UTSW 11 105,748,401 (GRCm39) missense probably damaging 0.97
R3711:Tanc2 UTSW 11 105,689,516 (GRCm39) missense probably damaging 1.00
R3765:Tanc2 UTSW 11 105,805,796 (GRCm39) missense probably damaging 1.00
R3890:Tanc2 UTSW 11 105,689,504 (GRCm39) missense probably damaging 1.00
R4193:Tanc2 UTSW 11 105,804,888 (GRCm39) intron probably benign
R4609:Tanc2 UTSW 11 105,801,066 (GRCm39) missense probably benign 0.24
R4674:Tanc2 UTSW 11 105,758,306 (GRCm39) missense probably damaging 1.00
R4928:Tanc2 UTSW 11 105,758,588 (GRCm39) missense probably damaging 1.00
R5008:Tanc2 UTSW 11 105,515,886 (GRCm39) start codon destroyed probably null 0.46
R5010:Tanc2 UTSW 11 105,670,918 (GRCm39) missense probably damaging 1.00
R5135:Tanc2 UTSW 11 105,748,379 (GRCm39) missense possibly damaging 0.93
R5385:Tanc2 UTSW 11 105,667,672 (GRCm39) missense probably damaging 0.99
R5409:Tanc2 UTSW 11 105,758,311 (GRCm39) missense possibly damaging 0.93
R5419:Tanc2 UTSW 11 105,813,709 (GRCm39) missense probably benign 0.00
R5501:Tanc2 UTSW 11 105,805,811 (GRCm39) critical splice donor site probably null
R5590:Tanc2 UTSW 11 105,814,132 (GRCm39) missense probably damaging 0.99
R5651:Tanc2 UTSW 11 105,689,526 (GRCm39) missense probably benign 0.44
R5798:Tanc2 UTSW 11 105,812,681 (GRCm39) small deletion probably benign
R5876:Tanc2 UTSW 11 105,813,439 (GRCm39) missense possibly damaging 0.71
R5889:Tanc2 UTSW 11 105,812,633 (GRCm39) missense probably benign 0.23
R5958:Tanc2 UTSW 11 105,731,451 (GRCm39) missense probably benign 0.00
R5999:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6024:Tanc2 UTSW 11 105,814,498 (GRCm39) missense probably damaging 1.00
R6024:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6025:Tanc2 UTSW 11 105,787,373 (GRCm39) missense possibly damaging 0.68
R6025:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6048:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6049:Tanc2 UTSW 11 105,758,543 (GRCm39) missense probably damaging 1.00
R6185:Tanc2 UTSW 11 105,803,865 (GRCm39) missense probably damaging 1.00
R6335:Tanc2 UTSW 11 105,748,382 (GRCm39) missense probably damaging 0.99
R6821:Tanc2 UTSW 11 105,777,316 (GRCm39) splice site probably null
R6846:Tanc2 UTSW 11 105,689,479 (GRCm39) missense probably benign 0.34
R6857:Tanc2 UTSW 11 105,801,114 (GRCm39) missense possibly damaging 0.81
R6904:Tanc2 UTSW 11 105,726,056 (GRCm39) missense possibly damaging 0.89
R7009:Tanc2 UTSW 11 105,731,525 (GRCm39) missense possibly damaging 0.47
R7017:Tanc2 UTSW 11 105,813,934 (GRCm39) missense probably benign
R7371:Tanc2 UTSW 11 105,689,422 (GRCm39) missense probably benign
R7556:Tanc2 UTSW 11 105,799,857 (GRCm39) missense
R7630:Tanc2 UTSW 11 105,667,734 (GRCm39) missense probably benign 0.04
R7693:Tanc2 UTSW 11 105,814,293 (GRCm39) missense probably damaging 1.00
R7757:Tanc2 UTSW 11 105,667,684 (GRCm39) missense possibly damaging 0.81
R7807:Tanc2 UTSW 11 105,758,480 (GRCm39) missense probably benign 0.00
R7878:Tanc2 UTSW 11 105,804,241 (GRCm39) missense
R7895:Tanc2 UTSW 11 105,812,651 (GRCm39) missense probably damaging 1.00
R7952:Tanc2 UTSW 11 105,787,423 (GRCm39) missense probably damaging 1.00
R8099:Tanc2 UTSW 11 105,754,833 (GRCm39) missense probably benign 0.17
R8117:Tanc2 UTSW 11 105,725,988 (GRCm39) missense probably damaging 1.00
R8133:Tanc2 UTSW 11 105,814,048 (GRCm39) missense probably damaging 0.97
R8422:Tanc2 UTSW 11 105,726,014 (GRCm39) missense probably benign 0.10
R8527:Tanc2 UTSW 11 105,807,834 (GRCm39) missense probably damaging 0.96
R8542:Tanc2 UTSW 11 105,807,834 (GRCm39) missense probably damaging 0.96
R8834:Tanc2 UTSW 11 105,807,845 (GRCm39) missense
R8912:Tanc2 UTSW 11 105,758,153 (GRCm39) missense probably benign 0.01
R8927:Tanc2 UTSW 11 105,701,331 (GRCm39) missense probably damaging 0.99
R8928:Tanc2 UTSW 11 105,701,331 (GRCm39) missense probably damaging 0.99
R8968:Tanc2 UTSW 11 105,758,400 (GRCm39) missense possibly damaging 0.50
R9065:Tanc2 UTSW 11 105,689,518 (GRCm39) nonsense probably null
R9095:Tanc2 UTSW 11 105,758,104 (GRCm39) missense probably benign 0.00
R9108:Tanc2 UTSW 11 105,810,580 (GRCm39) intron probably benign
R9131:Tanc2 UTSW 11 105,689,603 (GRCm39) missense probably benign
R9294:Tanc2 UTSW 11 105,777,284 (GRCm39) missense probably damaging 0.99
R9445:Tanc2 UTSW 11 105,758,290 (GRCm39) missense possibly damaging 0.80
X0027:Tanc2 UTSW 11 105,726,009 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- CTATGTCCCAACAACCGTGAGATCC -3'
(R):5'- AAGATGCACCCTGATGAGCTGGAG -3'

Sequencing Primer
(F):5'- GATgcagcagcagcagc -3'
(R):5'- CCCTGATGAGCTGGAGAAGTATG -3'
Posted On 2014-04-13