Incidental Mutation 'R1471:Mtcl1'
ID 164940
Institutional Source Beutler Lab
Gene Symbol Mtcl1
Ensembl Gene ENSMUSG00000052105
Gene Name microtubule crosslinking factor 1
Synonyms 1110012J17Rik, Soga2, t8219b25
MMRRC Submission 039524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R1471 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 66643977-66756745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66686143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 921 (E921G)
Ref Sequence ENSEMBL: ENSMUSP00000094894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000145347] [ENSMUST00000177034]
AlphaFold Q3UHU5
Predicted Effect probably damaging
Transcript: ENSMUST00000086693
AA Change: E921G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: E921G

DomainStartEndE-ValueType
low complexity region 23 42 N/A INTRINSIC
low complexity region 54 98 N/A INTRINSIC
low complexity region 99 120 N/A INTRINSIC
low complexity region 127 132 N/A INTRINSIC
low complexity region 166 183 N/A INTRINSIC
low complexity region 240 259 N/A INTRINSIC
low complexity region 273 290 N/A INTRINSIC
SCOP:d1fxkc_ 332 466 3e-7 SMART
Blast:BRLZ 339 362 1e-5 BLAST
Pfam:DUF3166 493 587 1.8e-34 PFAM
Pfam:DUF3166 622 714 3.8e-39 PFAM
low complexity region 843 859 N/A INTRINSIC
low complexity region 896 910 N/A INTRINSIC
low complexity region 962 973 N/A INTRINSIC
low complexity region 1049 1062 N/A INTRINSIC
coiled coil region 1120 1159 N/A INTRINSIC
Pfam:DUF4482 1220 1344 3e-40 PFAM
low complexity region 1464 1476 N/A INTRINSIC
low complexity region 1672 1681 N/A INTRINSIC
low complexity region 1912 1924 N/A INTRINSIC
low complexity region 1931 1943 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097291
AA Change: E921G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: E921G

DomainStartEndE-ValueType
low complexity region 23 42 N/A INTRINSIC
low complexity region 54 98 N/A INTRINSIC
low complexity region 99 120 N/A INTRINSIC
low complexity region 127 132 N/A INTRINSIC
low complexity region 166 183 N/A INTRINSIC
low complexity region 240 259 N/A INTRINSIC
low complexity region 273 290 N/A INTRINSIC
SCOP:d1fxkc_ 332 466 3e-7 SMART
Blast:BRLZ 339 362 1e-5 BLAST
Pfam:DUF3166 492 588 1.8e-43 PFAM
Pfam:DUF3166 621 716 5e-19 PFAM
low complexity region 843 859 N/A INTRINSIC
low complexity region 896 910 N/A INTRINSIC
low complexity region 962 973 N/A INTRINSIC
low complexity region 1049 1062 N/A INTRINSIC
coiled coil region 1120 1159 N/A INTRINSIC
Pfam:DUF4482 1220 1392 3.9e-49 PFAM
low complexity region 1464 1476 N/A INTRINSIC
low complexity region 1672 1681 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144492
Predicted Effect possibly damaging
Transcript: ENSMUST00000145347
AA Change: E472G

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: E472G

DomainStartEndE-ValueType
Pfam:DUF3166 43 139 9.1e-44 PFAM
Pfam:DUF3166 172 267 2.5e-19 PFAM
low complexity region 394 410 N/A INTRINSIC
low complexity region 447 461 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
low complexity region 600 613 N/A INTRINSIC
coiled coil region 671 710 N/A INTRINSIC
Pfam:DUF4482 771 910 4.6e-49 PFAM
low complexity region 1015 1027 N/A INTRINSIC
low complexity region 1223 1232 N/A INTRINSIC
low complexity region 1463 1475 N/A INTRINSIC
low complexity region 1482 1494 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177034
AA Change: E569G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: E569G

DomainStartEndE-ValueType
Pfam:DUF3166 140 236 1.5e-43 PFAM
Pfam:DUF3166 269 364 4e-19 PFAM
low complexity region 491 507 N/A INTRINSIC
low complexity region 544 558 N/A INTRINSIC
low complexity region 610 621 N/A INTRINSIC
coiled coil region 642 674 N/A INTRINSIC
low complexity region 738 751 N/A INTRINSIC
coiled coil region 809 848 N/A INTRINSIC
Pfam:DUF4482 909 1042 4e-49 PFAM
low complexity region 1161 1173 N/A INTRINSIC
low complexity region 1369 1378 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Global or Purkinje cell-specific homozygous knockout affects Purkinje cell axon and dendrite morphology, resulting in abnormal motor function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik C A 13: 61,001,336 (GRCm39) K130N probably damaging Het
Adam6a T A 12: 113,508,013 (GRCm39) S129T probably damaging Het
Adamts10 T A 17: 33,772,112 (GRCm39) F1087I probably damaging Het
Afp T A 5: 90,651,541 (GRCm39) N385K possibly damaging Het
Ahnak T G 19: 8,990,296 (GRCm39) probably benign Het
Akap6 A G 12: 53,188,279 (GRCm39) T1898A probably benign Het
Antxr2 C A 5: 98,123,199 (GRCm39) V283F possibly damaging Het
Asgr1 T C 11: 69,946,919 (GRCm39) V55A possibly damaging Het
Asxl3 A G 18: 22,649,411 (GRCm39) K467E probably damaging Het
Atp5f1a C A 18: 77,868,969 (GRCm39) Q398K probably damaging Het
Atxn2 T A 5: 121,924,437 (GRCm39) D455E probably damaging Het
B4galt6 C T 18: 20,878,410 (GRCm39) A39T possibly damaging Het
C130073F10Rik C T 4: 101,747,535 (GRCm39) E165K probably benign Het
Cabin1 A G 10: 75,530,626 (GRCm39) C1519R probably damaging Het
Casp8ap2 C T 4: 32,639,386 (GRCm39) R147* probably null Het
Ccdc88b A G 19: 6,831,391 (GRCm39) L517P probably benign Het
Cd109 G A 9: 78,561,869 (GRCm39) V220I probably damaging Het
Cd2ap T C 17: 43,131,488 (GRCm39) K369R probably benign Het
Cd300c A G 11: 114,850,614 (GRCm39) V63A probably benign Het
Cnot10 A G 9: 114,420,619 (GRCm39) V741A probably benign Het
Col18a1 G T 10: 76,932,040 (GRCm39) Q350K unknown Het
Crnkl1 T C 2: 145,774,236 (GRCm39) K76E possibly damaging Het
Cryzl2 A G 1: 157,298,291 (GRCm39) K227E probably benign Het
Cts6 G A 13: 61,344,194 (GRCm39) T286I probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Dcaf7 T A 11: 105,937,573 (GRCm39) F65L probably benign Het
Dgke A C 11: 88,946,320 (GRCm39) V160G possibly damaging Het
Dock8 C A 19: 25,178,400 (GRCm39) Q2098K possibly damaging Het
Efhb T A 17: 53,706,140 (GRCm39) D799V possibly damaging Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Exosc1 A T 19: 41,913,157 (GRCm39) S117R probably damaging Het
Fga T C 3: 82,935,925 (GRCm39) S51P probably benign Het
Fmn1 T C 2: 113,523,439 (GRCm39) F1141L possibly damaging Het
Foxm1 C T 6: 128,350,837 (GRCm39) L713F probably damaging Het
Galnt4 A G 10: 98,944,536 (GRCm39) E87G probably benign Het
Gamt T C 10: 80,096,692 (GRCm39) D15G probably benign Het
Gm15557 C A 2: 155,784,174 (GRCm39) D154E possibly damaging Het
Gnptab A G 10: 88,281,625 (GRCm39) I1211V probably benign Het
Greb1 A T 12: 16,761,775 (GRCm39) M535K probably damaging Het
Grm8 C A 6: 27,363,308 (GRCm39) A736S possibly damaging Het
Hspa14 T C 2: 3,492,645 (GRCm39) I373M probably benign Het
Ifi207 T A 1: 173,557,629 (GRCm39) T370S unknown Het
Igf1r A G 7: 67,653,585 (GRCm39) N41S probably damaging Het
Ikzf5 A T 7: 130,993,496 (GRCm39) V224D probably damaging Het
Il10 C A 1: 130,949,110 (GRCm39) Y90* probably null Het
Itga4 A G 2: 79,117,376 (GRCm39) D394G probably benign Het
Kif21a A T 15: 90,840,622 (GRCm39) S1165T probably benign Het
Krtap14 A G 16: 88,622,515 (GRCm39) S155P probably damaging Het
Loxl2 A G 14: 69,930,546 (GRCm39) N770S probably benign Het
Man2b1 A G 8: 85,813,474 (GRCm39) D222G probably damaging Het
Mcub T A 3: 129,709,464 (GRCm39) Y283F probably damaging Het
Meis3 T A 7: 15,911,496 (GRCm39) Y64* probably null Het
Mfsd6 T A 1: 52,748,716 (GRCm39) I50F probably benign Het
Micu2 T C 14: 58,182,854 (GRCm39) T165A probably damaging Het
Muc5b A T 7: 141,396,971 (GRCm39) N215Y unknown Het
Muc6 A G 7: 141,234,176 (GRCm39) F772L possibly damaging Het
Myt1 A G 2: 181,438,904 (GRCm39) D142G probably benign Het
Nol6 C T 4: 41,120,281 (GRCm39) V479I probably benign Het
Nsun7 A G 5: 66,441,572 (GRCm39) K414E probably benign Het
Nup210l A C 3: 90,077,869 (GRCm39) I914L probably benign Het
Obox3 G A 7: 15,360,875 (GRCm39) P88L probably benign Het
Or10ag57 A G 2: 87,218,862 (GRCm39) Y271C probably damaging Het
Or4f4b T C 2: 111,314,351 (GRCm39) L192P probably damaging Het
Or8h8 C T 2: 86,752,922 (GRCm39) probably null Het
Or8w1 T C 2: 87,466,014 (GRCm39) T26A probably benign Het
Pclo T C 5: 14,730,441 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,545,688 (GRCm39) N745D probably damaging Het
Pdzrn3 T A 6: 101,128,473 (GRCm39) N731I possibly damaging Het
Pkdrej T A 15: 85,701,334 (GRCm39) Q1534L probably benign Het
Pramel28 T C 4: 143,691,523 (GRCm39) N400S probably benign Het
Rell1 T A 5: 64,093,428 (GRCm39) D109V probably damaging Het
Rplp0 C T 5: 115,701,403 (GRCm39) T285I probably damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Sema3g C T 14: 30,950,002 (GRCm39) R728C probably damaging Het
Slc15a2 A G 16: 36,574,153 (GRCm39) Y536H probably damaging Het
Slc26a5 T A 5: 22,021,962 (GRCm39) Y488F probably benign Het
Slc5a4a A T 10: 76,022,362 (GRCm39) S566C probably damaging Het
Spink7 C T 18: 62,729,275 (GRCm39) E21K possibly damaging Het
Src C T 2: 157,299,107 (GRCm39) Q35* probably null Het
Srrm2 T A 17: 24,039,770 (GRCm39) V2234E probably damaging Het
Stk36 A T 1: 74,650,314 (GRCm39) Q282L probably benign Het
Tas2r118 T G 6: 23,969,170 (GRCm39) E297A probably damaging Het
Terf1 A G 1: 15,913,194 (GRCm39) Y385C probably damaging Het
Tmc3 T C 7: 83,247,498 (GRCm39) S198P probably damaging Het
Tmprss11b C T 5: 86,808,355 (GRCm39) R407H possibly damaging Het
Tspyl4 G A 10: 34,174,107 (GRCm39) E200K probably damaging Het
Ttc21a T C 9: 119,771,707 (GRCm39) Y169H probably damaging Het
Ugt2b36 C T 5: 87,239,930 (GRCm39) D152N probably damaging Het
Unk T C 11: 115,940,235 (GRCm39) I196T probably benign Het
Uroc1 T G 6: 90,321,153 (GRCm39) V243G probably damaging Het
Usp34 C A 11: 23,438,862 (GRCm39) Q3475K probably benign Het
Vmn2r117 T A 17: 23,697,447 (GRCm39) I82L probably benign Het
Vmn2r44 A T 7: 8,380,882 (GRCm39) V337E probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp362 T C 4: 128,680,993 (GRCm39) T111A probably benign Het
Zfp598 T C 17: 24,899,046 (GRCm39) V615A probably benign Het
Other mutations in Mtcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Mtcl1 APN 17 66,651,314 (GRCm39) missense probably benign 0.00
IGL01774:Mtcl1 APN 17 66,692,880 (GRCm39) missense probably damaging 1.00
IGL01918:Mtcl1 APN 17 66,675,263 (GRCm39) missense possibly damaging 0.47
IGL02000:Mtcl1 APN 17 66,661,185 (GRCm39) missense probably benign 0.19
IGL02074:Mtcl1 APN 17 66,673,463 (GRCm39) missense possibly damaging 0.68
IGL02338:Mtcl1 APN 17 66,686,965 (GRCm39) missense probably damaging 1.00
IGL02597:Mtcl1 APN 17 66,645,016 (GRCm39) missense probably benign
IGL03034:Mtcl1 APN 17 66,651,193 (GRCm39) missense probably damaging 1.00
IGL03120:Mtcl1 APN 17 66,686,378 (GRCm39) missense probably damaging 0.96
IGL03184:Mtcl1 APN 17 66,661,209 (GRCm39) missense probably benign 0.01
IGL03240:Mtcl1 APN 17 66,645,014 (GRCm39) missense probably damaging 1.00
IGL03294:Mtcl1 APN 17 66,645,014 (GRCm39) missense probably damaging 1.00
IGL03332:Mtcl1 APN 17 66,645,014 (GRCm39) missense probably damaging 1.00
PIT4378001:Mtcl1 UTSW 17 66,745,274 (GRCm39) missense probably damaging 1.00
PIT4520001:Mtcl1 UTSW 17 66,692,907 (GRCm39) missense possibly damaging 0.48
R0110:Mtcl1 UTSW 17 66,665,109 (GRCm39) missense possibly damaging 0.51
R0113:Mtcl1 UTSW 17 66,661,237 (GRCm39) missense possibly damaging 0.52
R0321:Mtcl1 UTSW 17 66,686,426 (GRCm39) missense probably damaging 1.00
R0366:Mtcl1 UTSW 17 66,645,124 (GRCm39) missense probably damaging 1.00
R0629:Mtcl1 UTSW 17 66,645,137 (GRCm39) missense possibly damaging 0.89
R1466:Mtcl1 UTSW 17 66,687,430 (GRCm39) missense probably damaging 1.00
R1466:Mtcl1 UTSW 17 66,687,430 (GRCm39) missense probably damaging 1.00
R1467:Mtcl1 UTSW 17 66,755,322 (GRCm39) missense probably damaging 1.00
R1467:Mtcl1 UTSW 17 66,755,322 (GRCm39) missense probably damaging 1.00
R1650:Mtcl1 UTSW 17 66,692,871 (GRCm39) missense probably damaging 1.00
R1754:Mtcl1 UTSW 17 66,687,178 (GRCm39) missense probably damaging 1.00
R1855:Mtcl1 UTSW 17 66,686,509 (GRCm39) missense probably benign
R1882:Mtcl1 UTSW 17 66,686,315 (GRCm39) missense probably benign 0.01
R1935:Mtcl1 UTSW 17 66,686,409 (GRCm39) missense probably benign 0.10
R2063:Mtcl1 UTSW 17 66,653,350 (GRCm39) missense probably damaging 1.00
R2132:Mtcl1 UTSW 17 66,650,618 (GRCm39) missense probably benign 0.04
R2197:Mtcl1 UTSW 17 66,673,427 (GRCm39) missense probably benign
R3196:Mtcl1 UTSW 17 66,650,829 (GRCm39) missense probably benign 0.07
R3877:Mtcl1 UTSW 17 66,649,949 (GRCm39) missense probably damaging 1.00
R4116:Mtcl1 UTSW 17 66,673,476 (GRCm39) missense probably benign
R4204:Mtcl1 UTSW 17 66,745,256 (GRCm39) missense probably damaging 1.00
R4373:Mtcl1 UTSW 17 66,687,074 (GRCm39) missense probably benign 0.05
R4396:Mtcl1 UTSW 17 66,651,220 (GRCm39) missense probably damaging 1.00
R4591:Mtcl1 UTSW 17 66,655,506 (GRCm39) missense probably benign 0.07
R4610:Mtcl1 UTSW 17 66,684,882 (GRCm39) missense probably benign 0.04
R4681:Mtcl1 UTSW 17 66,756,139 (GRCm39) missense unknown
R4922:Mtcl1 UTSW 17 66,655,474 (GRCm39) missense probably benign 0.29
R4992:Mtcl1 UTSW 17 66,649,834 (GRCm39) missense probably damaging 0.99
R5169:Mtcl1 UTSW 17 66,650,818 (GRCm39) missense probably benign 0.00
R5542:Mtcl1 UTSW 17 66,691,354 (GRCm39) intron probably benign
R5804:Mtcl1 UTSW 17 66,650,132 (GRCm39) missense probably benign 0.03
R5998:Mtcl1 UTSW 17 66,675,275 (GRCm39) missense probably damaging 0.99
R6163:Mtcl1 UTSW 17 66,686,326 (GRCm39) missense probably benign 0.10
R6191:Mtcl1 UTSW 17 66,650,521 (GRCm39) missense probably damaging 1.00
R6254:Mtcl1 UTSW 17 66,665,129 (GRCm39) missense probably benign 0.02
R6260:Mtcl1 UTSW 17 66,650,536 (GRCm39) missense probably damaging 1.00
R6524:Mtcl1 UTSW 17 66,655,280 (GRCm39) missense probably benign 0.15
R6884:Mtcl1 UTSW 17 66,745,197 (GRCm39) missense probably damaging 1.00
R7199:Mtcl1 UTSW 17 66,647,534 (GRCm39) missense probably benign 0.13
R7431:Mtcl1 UTSW 17 66,649,901 (GRCm39) nonsense probably null
R7479:Mtcl1 UTSW 17 66,686,485 (GRCm39) missense probably benign
R7564:Mtcl1 UTSW 17 66,678,322 (GRCm39) missense probably benign
R7608:Mtcl1 UTSW 17 66,650,300 (GRCm39) missense probably damaging 0.96
R7691:Mtcl1 UTSW 17 66,687,352 (GRCm39) missense probably damaging 1.00
R7847:Mtcl1 UTSW 17 66,651,328 (GRCm39) missense probably damaging 0.96
R7908:Mtcl1 UTSW 17 66,678,325 (GRCm39) missense possibly damaging 0.80
R8262:Mtcl1 UTSW 17 66,650,653 (GRCm39) missense probably damaging 0.99
R8324:Mtcl1 UTSW 17 66,743,212 (GRCm39) missense probably damaging 1.00
R8477:Mtcl1 UTSW 17 66,684,942 (GRCm39) missense probably benign 0.10
R8927:Mtcl1 UTSW 17 66,755,628 (GRCm39) missense probably benign 0.00
R8928:Mtcl1 UTSW 17 66,755,628 (GRCm39) missense probably benign 0.00
R9016:Mtcl1 UTSW 17 66,651,062 (GRCm39) missense probably damaging 1.00
R9048:Mtcl1 UTSW 17 66,678,331 (GRCm39) missense probably benign 0.01
R9059:Mtcl1 UTSW 17 66,650,606 (GRCm39) missense probably benign 0.04
R9221:Mtcl1 UTSW 17 66,650,879 (GRCm39) missense probably benign 0.00
R9327:Mtcl1 UTSW 17 66,645,130 (GRCm39) missense probably damaging 0.96
R9398:Mtcl1 UTSW 17 66,755,462 (GRCm39) missense possibly damaging 0.46
R9762:Mtcl1 UTSW 17 66,673,347 (GRCm39) missense probably benign 0.00
X0065:Mtcl1 UTSW 17 66,686,602 (GRCm39) missense probably damaging 1.00
Z1088:Mtcl1 UTSW 17 66,650,723 (GRCm39) missense probably benign 0.20
Z1176:Mtcl1 UTSW 17 66,686,455 (GRCm39) missense probably benign 0.01
Z1177:Mtcl1 UTSW 17 66,651,290 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGCGGAGACTTTAGTACAATGCAG -3'
(R):5'- GATGGTTTCATCCACGACTCAGGAC -3'

Sequencing Primer
(F):5'- GGTCTGAACTTAAAACCAAGCAG -3'
(R):5'- AATGGATTGGCCTCACCTG -3'
Posted On 2014-03-28