Incidental Mutation 'R2056:Mtcl2'
ID 228163
Institutional Source Beutler Lab
Gene Symbol Mtcl2
Ensembl Gene ENSMUSG00000055485
Gene Name microtubule crosslinking factor 2
Synonyms 9830001H06Rik, D430036N24Rik, Soga1
MMRRC Submission 040061-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R2056 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156857719-156921174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156864747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 1154 (G1154S)
Ref Sequence ENSEMBL: ENSMUSP00000066556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069098]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069098
AA Change: G1154S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: G1154S

DomainStartEndE-ValueType
low complexity region 15 23 N/A INTRINSIC
low complexity region 51 66 N/A INTRINSIC
low complexity region 97 112 N/A INTRINSIC
low complexity region 132 148 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
Blast:BRLZ 212 246 4e-8 BLAST
SCOP:d1fxkc_ 216 350 1e-3 SMART
Pfam:DUF3166 378 472 2.3e-31 PFAM
Pfam:DUF3166 504 593 5.3e-31 PFAM
low complexity region 637 649 N/A INTRINSIC
coiled coil region 807 867 N/A INTRINSIC
low complexity region 872 884 N/A INTRINSIC
low complexity region 938 950 N/A INTRINSIC
Pfam:DUF4482 1065 1205 3.9e-28 PFAM
low complexity region 1311 1321 N/A INTRINSIC
low complexity region 1363 1377 N/A INTRINSIC
low complexity region 1389 1418 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153229
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adh1 A G 3: 137,992,676 (GRCm39) D264G probably damaging Het
Ahnak2 T A 12: 112,748,626 (GRCm39) D407V probably benign Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,809,553 (GRCm39) I662V possibly damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apc A G 18: 34,449,481 (GRCm39) R2092G probably damaging Het
Arhgap18 C T 10: 26,730,904 (GRCm39) T122I probably benign Het
Atp2b4 G T 1: 133,654,275 (GRCm39) Q777K probably benign Het
Brap G A 5: 121,801,529 (GRCm39) G95S probably damaging Het
Cbfa2t2 G A 2: 154,377,077 (GRCm39) A587T probably damaging Het
Ccdc180 A G 4: 45,932,477 (GRCm39) I1308V probably benign Het
Ccser1 T A 6: 61,399,936 (GRCm39) probably null Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cmtm4 A C 8: 105,081,920 (GRCm39) F156V probably damaging Het
Cntln G A 4: 84,967,911 (GRCm39) R710K probably benign Het
Csn1s1 A T 5: 87,819,387 (GRCm39) T15S possibly damaging Het
Cul9 T C 17: 46,854,298 (GRCm39) T135A probably benign Het
Cyp2d10 T A 15: 82,288,015 (GRCm39) I363F probably damaging Het
Dhx38 G T 8: 110,289,352 (GRCm39) probably benign Het
Dis3 A T 14: 99,336,251 (GRCm39) I85N possibly damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dscaml1 A G 9: 45,661,430 (GRCm39) D1776G probably damaging Het
Erbin A G 13: 103,966,824 (GRCm39) S1209P probably benign Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Fbxo45 G T 16: 32,057,346 (GRCm39) Q183K possibly damaging Het
Frmd4b C T 6: 97,389,448 (GRCm39) probably null Het
Fzd7 A G 1: 59,523,361 (GRCm39) S415G probably benign Het
Gpd2 T A 2: 57,229,025 (GRCm39) probably null Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Gstcd T C 3: 132,787,814 (GRCm39) I295V probably benign Het
Gucy1a1 A G 3: 82,016,592 (GRCm39) L132P possibly damaging Het
Il12b A C 11: 44,298,727 (GRCm39) T61P probably damaging Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Itih3 A C 14: 30,631,481 (GRCm39) probably null Het
Kdm5b T A 1: 134,540,952 (GRCm39) D681E probably benign Het
Kif11 A G 19: 37,390,660 (GRCm39) N408D probably benign Het
Kng2 TATGACCATGACCATGACCATGACCATGACCATGACCAT TATGACCATGACCATGACCATGACCATGACCAT 16: 22,806,703 (GRCm39) probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Krt9 G T 11: 100,082,321 (GRCm39) N201K probably damaging Het
Lmbr1 G A 5: 29,438,092 (GRCm39) P304L probably benign Het
Lrrfip1 A G 1: 91,043,539 (GRCm39) N648S probably benign Het
Mab21l3 C A 3: 101,722,469 (GRCm39) V386L possibly damaging Het
Mamdc4 T C 2: 25,454,180 (GRCm39) Q1149R probably benign Het
Mast1 A G 8: 85,646,995 (GRCm39) F677L possibly damaging Het
Mcoln3 A G 3: 145,833,979 (GRCm39) D173G probably benign Het
Mmrn1 C T 6: 60,921,789 (GRCm39) T82I probably benign Het
Muc5ac A G 7: 141,345,772 (GRCm39) T203A probably benign Het
Myo9b T C 8: 71,812,334 (GRCm39) I2035T possibly damaging Het
Ndst3 T C 3: 123,465,534 (GRCm39) N146S probably damaging Het
Neu4 A G 1: 93,950,172 (GRCm39) T21A possibly damaging Het
Nos1ap G A 1: 170,155,215 (GRCm39) L267F probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or3a4 A T 11: 73,944,819 (GRCm39) Y255* probably null Het
Or4p8 A G 2: 88,727,105 (GRCm39) F279L probably damaging Het
Phc1 T C 6: 122,310,299 (GRCm39) N136S probably damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Psd2 A G 18: 36,139,744 (GRCm39) D596G possibly damaging Het
Psmc3 T C 2: 90,888,433 (GRCm39) F315L probably benign Het
Rerg G A 6: 137,034,878 (GRCm39) T42I probably benign Het
Rif1 T A 2: 51,983,588 (GRCm39) M577K probably damaging Het
Sap30 T C 8: 57,940,282 (GRCm39) probably null Het
Scn2b T C 9: 45,036,815 (GRCm39) Y108H probably damaging Het
Senp2 C T 16: 21,832,949 (GRCm39) T79I probably damaging Het
Serpinb2 T C 1: 107,451,543 (GRCm39) V232A probably damaging Het
Sgpp2 T A 1: 78,393,588 (GRCm39) L197Q probably damaging Het
Slc27a4 T C 2: 29,700,953 (GRCm39) W320R probably damaging Het
Spmip4 T C 6: 50,550,725 (GRCm39) R575G possibly damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Thbs4 T A 13: 92,927,387 (GRCm39) D34V probably benign Het
Tlcd4 T G 3: 121,001,070 (GRCm39) I188L probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tmod2 T C 9: 75,484,524 (GRCm39) E248G probably benign Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ttn T C 2: 76,615,882 (GRCm39) D8360G possibly damaging Het
Unc80 A G 1: 66,679,711 (GRCm39) E2094G possibly damaging Het
Vmn2r18 A T 5: 151,508,160 (GRCm39) D321E probably damaging Het
Other mutations in Mtcl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Mtcl2 APN 2 156,872,784 (GRCm39) missense probably damaging 1.00
IGL00924:Mtcl2 APN 2 156,882,625 (GRCm39) missense probably damaging 0.99
IGL01723:Mtcl2 APN 2 156,872,534 (GRCm39) missense probably benign 0.00
IGL01749:Mtcl2 APN 2 156,863,461 (GRCm39) splice site probably benign
IGL02199:Mtcl2 APN 2 156,872,865 (GRCm39) missense probably damaging 1.00
IGL02262:Mtcl2 APN 2 156,872,826 (GRCm39) missense probably damaging 1.00
IGL02618:Mtcl2 APN 2 156,882,486 (GRCm39) missense probably damaging 1.00
IGL02643:Mtcl2 APN 2 156,882,663 (GRCm39) missense probably damaging 1.00
deglutition UTSW 2 156,881,784 (GRCm39) missense possibly damaging 0.63
gulp UTSW 2 156,865,737 (GRCm39) nonsense probably null
IGL02835:Mtcl2 UTSW 2 156,883,854 (GRCm39) missense possibly damaging 0.91
R0528:Mtcl2 UTSW 2 156,862,612 (GRCm39) missense probably damaging 1.00
R0535:Mtcl2 UTSW 2 156,875,209 (GRCm39) missense possibly damaging 0.89
R0726:Mtcl2 UTSW 2 156,902,182 (GRCm39) missense probably damaging 1.00
R1473:Mtcl2 UTSW 2 156,862,368 (GRCm39) nonsense probably null
R1589:Mtcl2 UTSW 2 156,869,557 (GRCm39) missense probably benign 0.05
R1615:Mtcl2 UTSW 2 156,862,663 (GRCm39) missense probably damaging 1.00
R1681:Mtcl2 UTSW 2 156,872,450 (GRCm39) missense possibly damaging 0.70
R1701:Mtcl2 UTSW 2 156,872,539 (GRCm39) missense probably damaging 1.00
R1872:Mtcl2 UTSW 2 156,882,181 (GRCm39) missense possibly damaging 0.88
R2118:Mtcl2 UTSW 2 156,875,245 (GRCm39) missense probably damaging 1.00
R2120:Mtcl2 UTSW 2 156,875,245 (GRCm39) missense probably damaging 1.00
R2121:Mtcl2 UTSW 2 156,875,245 (GRCm39) missense probably damaging 1.00
R2124:Mtcl2 UTSW 2 156,875,245 (GRCm39) missense probably damaging 1.00
R2249:Mtcl2 UTSW 2 156,882,013 (GRCm39) missense probably benign 0.08
R3147:Mtcl2 UTSW 2 156,862,284 (GRCm39) missense possibly damaging 0.91
R3758:Mtcl2 UTSW 2 156,862,558 (GRCm39) missense possibly damaging 0.77
R4601:Mtcl2 UTSW 2 156,881,844 (GRCm39) missense probably benign 0.41
R4646:Mtcl2 UTSW 2 156,862,426 (GRCm39) missense probably damaging 1.00
R4653:Mtcl2 UTSW 2 156,882,511 (GRCm39) missense probably damaging 1.00
R4736:Mtcl2 UTSW 2 156,862,474 (GRCm39) missense probably damaging 1.00
R4773:Mtcl2 UTSW 2 156,872,489 (GRCm39) missense probably benign 0.08
R4796:Mtcl2 UTSW 2 156,862,172 (GRCm39) missense probably benign
R4999:Mtcl2 UTSW 2 156,864,776 (GRCm39) missense probably benign 0.10
R5304:Mtcl2 UTSW 2 156,865,737 (GRCm39) nonsense probably null
R5369:Mtcl2 UTSW 2 156,882,654 (GRCm39) missense probably damaging 1.00
R5530:Mtcl2 UTSW 2 156,862,262 (GRCm39) missense probably damaging 1.00
R5712:Mtcl2 UTSW 2 156,872,841 (GRCm39) missense probably damaging 1.00
R5780:Mtcl2 UTSW 2 156,860,410 (GRCm39) missense probably damaging 0.98
R6162:Mtcl2 UTSW 2 156,881,784 (GRCm39) missense possibly damaging 0.63
R6253:Mtcl2 UTSW 2 156,863,339 (GRCm39) missense probably benign 0.00
R6303:Mtcl2 UTSW 2 156,882,684 (GRCm39) missense possibly damaging 0.91
R6304:Mtcl2 UTSW 2 156,882,684 (GRCm39) missense possibly damaging 0.91
R6523:Mtcl2 UTSW 2 156,902,263 (GRCm39) nonsense probably null
R7216:Mtcl2 UTSW 2 156,860,290 (GRCm39) missense possibly damaging 0.76
R7335:Mtcl2 UTSW 2 156,872,925 (GRCm39) missense possibly damaging 0.86
R7562:Mtcl2 UTSW 2 156,895,509 (GRCm39) missense probably damaging 1.00
R7593:Mtcl2 UTSW 2 156,882,776 (GRCm39) missense probably benign 0.40
R7788:Mtcl2 UTSW 2 156,869,504 (GRCm39) missense probably benign 0.09
R8013:Mtcl2 UTSW 2 156,872,706 (GRCm39) critical splice donor site probably null
R8263:Mtcl2 UTSW 2 156,869,510 (GRCm39) missense possibly damaging 0.94
R8299:Mtcl2 UTSW 2 156,862,651 (GRCm39) missense possibly damaging 0.93
R8814:Mtcl2 UTSW 2 156,872,451 (GRCm39) nonsense probably null
R9222:Mtcl2 UTSW 2 156,881,919 (GRCm39) missense probably benign 0.08
R9563:Mtcl2 UTSW 2 156,902,182 (GRCm39) missense probably damaging 1.00
R9607:Mtcl2 UTSW 2 156,869,488 (GRCm39) missense probably damaging 0.96
R9645:Mtcl2 UTSW 2 156,869,390 (GRCm39) missense probably damaging 1.00
R9690:Mtcl2 UTSW 2 156,862,134 (GRCm39) missense probably benign 0.06
R9727:Mtcl2 UTSW 2 156,862,168 (GRCm39) missense possibly damaging 0.89
X0019:Mtcl2 UTSW 2 156,862,184 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCAACATTAAACTGCAGCCTG -3'
(R):5'- AGACAACTCACGTGTGGAGTC -3'

Sequencing Primer
(F):5'- GCAGCCTGCAATCCTTGTGAC -3'
(R):5'- GAGTCTTGGGCTCAGTTCCC -3'
Posted On 2014-09-17