Incidental Mutation 'R2197:Mtcl1'
ID 238462
Institutional Source Beutler Lab
Gene Symbol Mtcl1
Ensembl Gene ENSMUSG00000052105
Gene Name microtubule crosslinking factor 1
Synonyms 1110012J17Rik, Soga2, t8219b25
MMRRC Submission 040199-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R2197 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 66643977-66756745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66673427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 783 (M783K)
Ref Sequence ENSEMBL: ENSMUSP00000135690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000177034] [ENSMUST00000145347]
AlphaFold Q3UHU5
Predicted Effect probably benign
Transcript: ENSMUST00000086693
AA Change: M1094K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: M1094K

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: M1094K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: M1094K

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: ENSMUST00000143420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144492
Predicted Effect probably benign
Transcript: ENSMUST00000177034
AA Change: M783K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: M783K

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
Predicted Effect probably benign
Transcript: ENSMUST00000145347
AA Change: M645K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: M645K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A T 11: 102,660,750 (GRCm39) I94F possibly damaging Het
Ankrd50 A T 3: 38,509,741 (GRCm39) D875E probably damaging Het
Arf3 T C 15: 98,639,285 (GRCm39) N60S probably benign Het
Atxn2 T G 5: 121,944,280 (GRCm39) probably null Het
B3gnt8 A T 7: 25,328,373 (GRCm39) I268F probably benign Het
Bmp1 T A 14: 70,723,712 (GRCm39) D708V possibly damaging Het
C1s2 A G 6: 124,609,069 (GRCm39) S163P probably damaging Het
C3 A G 17: 57,526,623 (GRCm39) I786T probably benign Het
Cacna2d2 T A 9: 107,404,602 (GRCm39) L1138Q probably damaging Het
Cage1 T A 13: 38,207,029 (GRCm39) Y272F probably damaging Het
Cd300ld A T 11: 114,875,058 (GRCm39) M192K possibly damaging Het
Cdc5l A T 17: 45,718,745 (GRCm39) F624I probably benign Het
Cdh8 T A 8: 99,922,897 (GRCm39) Q333L probably damaging Het
Ciapin1 T A 8: 95,555,787 (GRCm39) K128* probably null Het
Col6a3 T A 1: 90,731,467 (GRCm39) E988D probably benign Het
Crip3 A G 17: 46,740,338 (GRCm39) E46G probably damaging Het
D5Ertd579e A G 5: 36,772,137 (GRCm39) S753P possibly damaging Het
Dock6 T A 9: 21,744,177 (GRCm39) D126V probably damaging Het
Duxf4 T A 10: 58,072,158 (GRCm39) I19F possibly damaging Het
Dvl3 A G 16: 20,342,506 (GRCm39) E153G probably damaging Het
Epas1 A T 17: 87,136,471 (GRCm39) M748L probably benign Het
Exoc8 A G 8: 125,622,477 (GRCm39) L630P probably damaging Het
Fam227a G A 15: 79,507,668 (GRCm39) T454M probably damaging Het
Flnc A T 6: 29,459,134 (GRCm39) D2472V probably damaging Het
Galnt4 G A 10: 98,944,509 (GRCm39) G78E probably damaging Het
Ghr A T 15: 3,362,956 (GRCm39) L172* probably null Het
Gjb5 A T 4: 127,250,063 (GRCm39) probably null Het
Hdac5 T C 11: 102,095,340 (GRCm39) D427G probably damaging Het
Hsd17b4 G A 18: 50,316,369 (GRCm39) probably null Het
Kcnab1 T C 3: 65,017,368 (GRCm39) I59T probably benign Het
Kcnh7 A G 2: 62,607,950 (GRCm39) Y544H probably damaging Het
Kdm7a A G 6: 39,123,870 (GRCm39) S765P probably damaging Het
Lama1 A T 17: 68,059,936 (GRCm39) H675L probably benign Het
Lemd3 CCCTCCTCCTCCTCCTCCTCC CCCTCCTCCTCCTCCTCC 10: 120,814,432 (GRCm39) probably benign Het
Llgl1 T C 11: 60,600,865 (GRCm39) S654P possibly damaging Het
Lvrn G T 18: 47,011,409 (GRCm39) M455I probably benign Het
Mfsd12 T A 10: 81,193,568 (GRCm39) L46Q probably damaging Het
Mthfd1l A T 10: 3,978,399 (GRCm39) T420S probably damaging Het
Mybphl T A 3: 108,284,635 (GRCm39) I294N probably damaging Het
Or4c52 G A 2: 89,845,768 (GRCm39) G165S probably damaging Het
Or4f14b T C 2: 111,775,658 (GRCm39) T48A possibly damaging Het
Or52ab7 T A 7: 102,977,831 (GRCm39) L46* probably null Het
Oxa1l A T 14: 54,598,924 (GRCm39) Q70L probably benign Het
Pcdhac2 A T 18: 37,279,185 (GRCm39) I722F probably damaging Het
Pde4d A G 13: 110,084,924 (GRCm39) D460G probably damaging Het
Pth1r CGGG CGGGGGG 9: 110,556,058 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,152 (GRCm39) S334P probably benign Het
Ror2 C T 13: 53,439,816 (GRCm39) probably null Het
Scnn1g G C 7: 121,366,519 (GRCm39) W572S probably damaging Het
Skint5 G A 4: 113,798,046 (GRCm39) S179L probably damaging Het
Slc22a2 G T 17: 12,817,949 (GRCm39) G175V probably damaging Het
Spaca6 G A 17: 18,056,416 (GRCm39) probably null Het
Tbc1d30 C T 10: 121,140,312 (GRCm39) R207H probably damaging Het
Tdrd5 A G 1: 156,087,435 (GRCm39) I829T probably benign Het
Tmcc3 T C 10: 94,414,780 (GRCm39) S161P probably damaging Het
Tmem150b A G 7: 4,719,353 (GRCm39) V189A probably benign Het
Tmem248 A G 5: 130,260,597 (GRCm39) D54G probably benign Het
Trmt1 T A 8: 85,417,487 (GRCm39) S121T probably damaging Het
Tyk2 C T 9: 21,026,503 (GRCm39) V698M probably damaging Het
Usp17la A G 7: 104,509,919 (GRCm39) R175G probably damaging Het
Vav1 A G 17: 57,610,140 (GRCm39) N464S probably benign Het
Vmn2r57 T G 7: 41,078,249 (GRCm39) probably null Het
Vmn2r78 A G 7: 86,570,535 (GRCm39) Y351C 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
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'- TTTGTGCACCCAGGAACATC -3'
(R):5'- GTGTGAGACCAGGTGTTTAAGAC -3'

Sequencing Primer
(F):5'- CCAGGAACATCAGCATTTGG -3'
(R):5'- CTAACTAGTCTTGGCTACTCATAAGG -3'
Posted On 2014-10-02