Incidental Mutation 'R9762:Mtcl1'
ID 733114
Institutional Source Beutler Lab
Gene Symbol Mtcl1
Ensembl Gene ENSMUSG00000052105
Gene Name microtubule crosslinking factor 1
Synonyms 1110012J17Rik, Soga2, t8219b25
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R9762 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 66643977-66756745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66673347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1121 (N1121D)
Ref Sequence ENSEMBL: ENSMUSP00000083899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000145347] [ENSMUST00000177034]
AlphaFold Q3UHU5
Predicted Effect probably benign
Transcript: ENSMUST00000086693
AA Change: N1121D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: N1121D

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 benign
Transcript: ENSMUST00000097291
AA Change: N1121D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: N1121D

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 probably benign
Transcript: ENSMUST00000145347
AA Change: N672D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: N672D

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 probably benign
Transcript: ENSMUST00000177034
AA Change: N810D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: N810D

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G T 19: 57,025,691 (GRCm39) R851S probably damaging Het
Acap2 C A 16: 30,929,763 (GRCm39) A407S probably damaging Het
Adam26a A T 8: 44,021,635 (GRCm39) S618R probably benign Het
Adamtsl5 T C 10: 80,180,896 (GRCm39) Y89C probably damaging Het
Aebp2 T A 6: 140,588,021 (GRCm39) S364T probably damaging Het
Ankfy1 A G 11: 72,621,401 (GRCm39) E229G probably benign Het
Arhgap27 G T 11: 103,251,511 (GRCm39) D72E probably benign Het
Arhgap33 T C 7: 30,230,950 (GRCm39) E191G probably null Het
Atp6v0a1 C T 11: 100,946,427 (GRCm39) H807Y possibly damaging Het
Ccdc113 A C 8: 96,272,605 (GRCm39) E237D probably benign Het
Cd200r2 T A 16: 44,729,420 (GRCm39) I25K probably benign Het
Cd300c2 A G 11: 114,887,775 (GRCm39) V209A probably damaging Het
Cdkn2d T A 9: 21,200,383 (GRCm39) E129D probably benign Het
Cfap251 A G 5: 123,460,533 (GRCm39) Y1165C probably damaging Het
Chd9 A T 8: 91,712,741 (GRCm39) N855Y unknown Het
Cntn3 A G 6: 102,254,196 (GRCm39) C249R probably damaging Het
Col12a1 T C 9: 79,527,266 (GRCm39) E2688G possibly damaging Het
Copb2 C T 9: 98,464,901 (GRCm39) T612I probably benign Het
Cplx1 A T 5: 108,673,378 (GRCm39) D29E possibly damaging Het
Cracd A G 5: 77,006,555 (GRCm39) K972R unknown Het
Cstf3 A T 2: 104,494,684 (GRCm39) R645* probably null Het
Ctdp1 A T 18: 80,492,550 (GRCm39) Y648* probably null Het
Daam1 T A 12: 71,990,855 (GRCm39) D156E unknown Het
Dbn1 G A 13: 55,622,824 (GRCm39) P599L probably damaging Het
Diaph1 C A 18: 37,987,589 (GRCm39) V1056F probably damaging Het
Dzip3 A T 16: 48,748,707 (GRCm39) D870E probably damaging Het
Efcab12 T C 6: 115,800,331 (GRCm39) T231A possibly damaging Het
Efl1 A C 7: 82,412,596 (GRCm39) D995A probably benign Het
Fam186a T C 15: 99,842,393 (GRCm39) T1284A possibly damaging Het
Fbxo33 T C 12: 59,251,708 (GRCm39) E269G probably benign Het
Foxj3 T A 4: 119,483,540 (GRCm39) M604K unknown Het
Gabra4 A G 5: 71,814,463 (GRCm39) S86P unknown Het
Gnas G A 2: 174,140,639 (GRCm39) W269* probably null Het
Gpc6 T G 14: 118,202,258 (GRCm39) N489K probably damaging Het
Gprin3 T C 6: 59,331,236 (GRCm39) K357R possibly damaging Het
Grip1 G T 10: 119,811,906 (GRCm39) A286S possibly damaging Het
Grm4 A T 17: 27,721,688 (GRCm39) V151E probably damaging Het
Gucy1b1 A T 3: 81,942,065 (GRCm39) S565T possibly damaging Het
Hace1 T C 10: 45,525,014 (GRCm39) V260A probably benign Het
Hepacam2 A G 6: 3,486,940 (GRCm39) I139T probably damaging Het
Hspa4l T C 3: 40,727,057 (GRCm39) I486T probably benign Het
Igkv8-19 T C 6: 70,317,866 (GRCm39) Y120C probably damaging Het
Iglv2 C T 16: 19,079,548 (GRCm39) probably benign Het
Igsf10 A T 3: 59,237,106 (GRCm39) L1025H probably damaging Het
Itpkb A G 1: 180,161,752 (GRCm39) N626S probably benign Het
Jarid2 C T 13: 45,068,253 (GRCm39) R1092W possibly damaging Het
Klc3 C T 7: 19,132,023 (GRCm39) W118* probably null Het
Klhl25 C T 7: 75,516,741 (GRCm39) T549I probably damaging Het
Krtap6-2 T A 16: 89,216,763 (GRCm39) Y68F unknown Het
Ncbp3 A G 11: 72,961,668 (GRCm39) K314R probably benign Het
Nop2 T C 6: 125,121,272 (GRCm39) W685R probably benign Het
Orc1 T A 4: 108,447,874 (GRCm39) D40E probably benign Het
Pappa2 G T 1: 158,684,948 (GRCm39) N730K probably damaging Het
Parpbp A G 10: 87,960,815 (GRCm39) S224P possibly damaging Het
Pdgfc A G 3: 80,944,792 (GRCm39) R17G probably benign Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pik3r6 T A 11: 68,424,358 (GRCm39) L321* probably null Het
Pnp2 T C 14: 51,197,006 (GRCm39) W31R probably damaging Het
Prr12 T C 7: 44,696,954 (GRCm39) Y987C unknown Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Prss23 T C 7: 89,159,683 (GRCm39) I129V probably damaging Het
Rhno1 T C 6: 128,336,119 (GRCm39) T39A probably damaging Het
Rps2 A T 17: 24,940,810 (GRCm39) R279* probably null Het
Ski T C 4: 155,244,344 (GRCm39) K427R probably damaging Het
Slc23a3 ATT ATTT 1: 75,109,925 (GRCm39) probably null Het
Slc26a7 C T 4: 14,546,372 (GRCm39) G319D probably damaging Het
Slc7a6os A G 8: 106,937,523 (GRCm39) V8A probably damaging Het
Smim8 A C 4: 34,771,265 (GRCm39) I43S probably damaging Het
Sox5 T C 6: 143,819,842 (GRCm39) K400R probably damaging Het
Tab1 G A 15: 80,032,943 (GRCm39) V76M probably damaging Het
Taf2 A C 15: 54,894,440 (GRCm39) probably null Het
Taf5 G A 19: 47,059,434 (GRCm39) V193M probably damaging Het
Tm2d1 A T 4: 98,246,261 (GRCm39) S180R probably damaging Het
Ttc12 A G 9: 49,368,166 (GRCm39) F287S probably damaging Het
Ubqln4 G A 3: 88,473,185 (GRCm39) probably null Het
Ubr3 T C 2: 69,839,497 (GRCm39) V1537A probably benign Het
Ugt8a A G 3: 125,708,900 (GRCm39) L70P probably damaging Het
Vps26a A T 10: 62,316,433 (GRCm39) N51K probably benign Het
Xkr5 T A 8: 18,990,749 (GRCm39) T173S probably benign Het
Zfp354c A G 11: 50,706,239 (GRCm39) C279R probably damaging Het
Zfp65 T A 13: 67,856,478 (GRCm39) H267L probably damaging 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
R1471:Mtcl1 UTSW 17 66,686,143 (GRCm39) missense probably damaging 0.96
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
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'- TACGGTCCTAAGCTATGGGC -3'
(R):5'- ATCCAGAGAATGTGCCTGGG -3'

Sequencing Primer
(F):5'- TGGGCTAACCAGATGAATAGAC -3'
(R):5'- AGAATGTGCCTGGGCTTGC -3'
Posted On 2022-11-14