Incidental Mutation 'R7847:Mtcl1'
ID 606705
Institutional Source Beutler Lab
Gene Symbol Mtcl1
Ensembl Gene ENSMUSG00000052105
Gene Name microtubule crosslinking factor 1
Synonyms 1110012J17Rik, Soga2, t8219b25
MMRRC Submission 045901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R7847 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 66643977-66756745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66651328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 1379 (Q1379R)
Ref Sequence ENSEMBL: ENSMUSP00000083899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000145347] [ENSMUST00000177034]
AlphaFold Q3UHU5
Predicted Effect probably damaging
Transcript: ENSMUST00000086693
AA Change: Q1379R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: Q1379R

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: Q1379R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: Q1379R

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 possibly damaging
Transcript: ENSMUST00000145347
AA Change: Q930R

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: Q930R

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: Q1076R

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: Q1076R

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,549 (GRCm39) Y296N probably benign Het
Abcc4 T C 14: 118,864,892 (GRCm39) E378G probably damaging Het
Acp2 C T 2: 91,041,077 (GRCm39) H422Y possibly damaging Het
Aldoart1 C T 4: 72,770,193 (GRCm39) C205Y probably damaging Het
Alg9 T C 9: 50,700,905 (GRCm39) L225S possibly damaging Het
Anapc1 A C 2: 128,511,828 (GRCm39) V455G possibly damaging Het
Arhgef5 C A 6: 43,252,069 (GRCm39) S940* probably null Het
Asb15 C A 6: 24,564,266 (GRCm39) A240E probably damaging Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Ccdc17 A G 4: 116,457,103 (GRCm39) E529G probably benign Het
Cyp2b10 T C 7: 25,597,185 (GRCm39) S26P possibly damaging Het
Dcp1b T C 6: 119,192,256 (GRCm39) S391P probably benign Het
Dock6 A T 9: 21,712,503 (GRCm39) L2086Q unknown Het
Ephx1 A G 1: 180,829,426 (GRCm39) S41P probably benign Het
Erbb3 G A 10: 128,407,058 (GRCm39) T1034M probably damaging Het
Gm17334 T A 11: 53,663,564 (GRCm39) probably benign Het
Golgb1 A G 16: 36,752,282 (GRCm39) H3227R probably damaging Het
Grin2c G A 11: 115,151,804 (GRCm39) P52L possibly damaging Het
Herc2 T C 7: 55,807,308 (GRCm39) probably null Het
Il17rb A G 14: 29,718,763 (GRCm39) Y440H probably damaging Het
Kcng4 A G 8: 120,352,881 (GRCm39) L343P probably damaging Het
Knl1 G A 2: 118,901,457 (GRCm39) E1053K probably benign Het
Lipo4 A T 19: 33,491,599 (GRCm39) V128E possibly damaging Het
Lmntd2 T C 7: 140,790,063 (GRCm39) N650D probably benign Het
Lrrfip2 T C 9: 111,042,948 (GRCm39) L460P probably damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mtfr2 G A 10: 20,233,198 (GRCm39) A256T probably benign Het
Mup17 T A 4: 61,511,456 (GRCm39) H159L probably benign Het
Ndufaf1 A T 2: 119,490,534 (GRCm39) D175E probably damaging Het
Nup210l A G 3: 90,058,430 (GRCm39) M610V probably benign Het
Or10ak14 G T 4: 118,611,565 (GRCm39) H59N possibly damaging Het
Or7a38 T A 10: 78,752,730 (GRCm39) S19T probably benign Het
Or8g35 A G 9: 39,381,801 (GRCm39) S74P probably benign Het
Pard3b A G 1: 62,383,093 (GRCm39) D729G probably benign Het
Phactr1 T C 13: 43,210,664 (GRCm39) L169P possibly damaging Het
Rad54b T A 4: 11,612,655 (GRCm39) S762R probably damaging Het
Senp5 C T 16: 31,808,991 (GRCm39) V88I probably benign Het
Specc1l T C 10: 75,145,670 (GRCm39) V1105A probably damaging Het
Trak2 A C 1: 58,974,977 (GRCm39) S72A possibly damaging Het
Ttyh2 T C 11: 114,566,500 (GRCm39) probably null Het
Ush2a G A 1: 188,163,005 (GRCm39) C1029Y probably damaging Het
Vmn2r17 A G 5: 109,568,063 (GRCm39) Y62C probably damaging Het
Vmn2r41 A G 7: 8,164,547 (GRCm39) F2L probably benign Het
Xirp1 G T 9: 119,848,819 (GRCm39) D21E possibly damaging Het
Zfp114 C A 7: 23,880,460 (GRCm39) Q270K possibly damaging Het
Zfp341 T C 2: 154,476,114 (GRCm39) S441P probably damaging Het
Zfp780b A C 7: 27,663,843 (GRCm39) H237Q 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
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
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'- CGTGACACTTGTGGTCAGATAC -3'
(R):5'- AGTGTATCAGCCACTCAGAGG -3'

Sequencing Primer
(F):5'- ATCCGGACAAGGCTCTGTG -3'
(R):5'- GTGTATCAGCCACTCAGAGGTTATC -3'
Posted On 2019-12-20