Incidental Mutation 'R6191:Mtcl1'
ID 502603
Institutional Source Beutler Lab
Gene Symbol Mtcl1
Ensembl Gene ENSMUSG00000052105
Gene Name microtubule crosslinking factor 1
Synonyms 1110012J17Rik, Soga2, t8219b25
MMRRC Submission 044331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R6191 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 66643977-66756745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66650521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1345 (R1345H)
Ref Sequence ENSEMBL: ENSMUSP00000135690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000145347] [ENSMUST00000177034]
AlphaFold Q3UHU5
Predicted Effect probably damaging
Transcript: ENSMUST00000086693
AA Change: R1648H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: R1648H

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: R1648H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: R1648H

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: ENSMUST00000129525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134139
Predicted Effect probably damaging
Transcript: ENSMUST00000145347
AA Change: R1199H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: R1199H

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 damaging
Transcript: ENSMUST00000177034
AA Change: R1345H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: R1345H

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (84/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A C 9: 55,909,807 (GRCm39) D144E possibly damaging Het
Amigo2 T A 15: 97,143,419 (GRCm39) K334N probably benign Het
Ano6 T C 15: 95,846,380 (GRCm39) probably null Het
Ap1m2 C A 9: 21,210,601 (GRCm39) V343F probably benign Het
Apol6 T C 15: 76,940,098 (GRCm39) V307A probably benign Het
Arsi C A 18: 61,045,544 (GRCm39) A78E probably damaging Het
B2m A T 2: 121,981,396 (GRCm39) N37I possibly damaging Het
Bltp3b G T 10: 89,641,180 (GRCm39) G784C possibly damaging Het
C8a T C 4: 104,703,100 (GRCm39) K363R probably benign Het
Ccdc117 C A 11: 5,484,242 (GRCm39) probably null Het
Ccdc154 C A 17: 25,386,945 (GRCm39) Q325K probably damaging Het
Cd300e A T 11: 114,945,359 (GRCm39) V145E possibly damaging Het
Col19a1 G T 1: 24,356,474 (GRCm39) P673Q probably damaging Het
Csn2 A G 5: 87,843,885 (GRCm39) probably null Het
Ctnna1 T C 18: 35,307,408 (GRCm39) V135A probably damaging Het
Dnah11 T A 12: 118,154,632 (GRCm39) D216V probably benign Het
Dnah12 A G 14: 26,431,412 (GRCm39) H410R probably benign Het
Dock2 C T 11: 34,181,652 (GRCm39) R1637H possibly damaging Het
Dspp A G 5: 104,325,214 (GRCm39) N526D unknown Het
Frem2 T C 3: 53,562,701 (GRCm39) H602R probably benign Het
Galc A T 12: 98,218,293 (GRCm39) H186Q probably damaging Het
Grina T C 15: 76,133,218 (GRCm39) V262A probably damaging Het
Gse1 G A 8: 121,280,542 (GRCm39) probably null Het
H2-Oa C A 17: 34,312,842 (GRCm39) Q40K probably damaging Het
Hfm1 C A 5: 107,034,419 (GRCm39) D763Y possibly damaging Het
Hmcn2 T A 2: 31,348,758 (GRCm39) Y4925N probably damaging Het
Hs3st3b1 C A 11: 63,780,029 (GRCm39) R366L probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Iqank1 T C 15: 75,918,218 (GRCm39) probably null Het
Itpr2 A G 6: 146,229,833 (GRCm39) V1221A probably benign Het
Kdm6b T C 11: 69,297,584 (GRCm39) N285S probably benign Het
Klk1b1 T A 7: 43,620,081 (GRCm39) N181K probably damaging Het
Kmt2a C A 9: 44,738,125 (GRCm39) probably benign Het
Lama5 T C 2: 179,827,752 (GRCm39) D2170G probably damaging Het
Lama5 T A 2: 179,822,404 (GRCm39) T2890S probably damaging Het
Lsm2 T A 17: 35,201,131 (GRCm39) probably benign Het
Map3k5 G T 10: 19,899,415 (GRCm39) C232F probably damaging Het
Mapk9 T G 11: 49,754,383 (GRCm39) D45E probably damaging Het
Mpnd T C 17: 56,319,482 (GRCm39) V315A possibly damaging Het
Msh2 A G 17: 88,030,900 (GRCm39) I926V probably benign Het
Nbeal2 A G 9: 110,457,058 (GRCm39) probably null Het
Neo1 T C 9: 58,796,312 (GRCm39) D1205G probably damaging Het
Nhlrc2 A G 19: 56,559,291 (GRCm39) S259G probably benign Het
Nkain4 G A 2: 180,577,796 (GRCm39) P186L probably damaging Het
Nkain4 G A 2: 180,577,797 (GRCm39) P186S probably damaging Het
Nlrp1b T A 11: 71,109,283 (GRCm39) R73* probably null Het
Nr5a2 T C 1: 136,818,536 (GRCm39) D330G probably damaging Het
Nup54 A G 5: 92,572,153 (GRCm39) L299P probably damaging Het
Or2v1 T C 11: 49,025,877 (GRCm39) L286P probably damaging Het
Or5aq7 A G 2: 86,938,296 (GRCm39) V145A probably damaging Het
Pcdhb8 T A 18: 37,489,279 (GRCm39) V319E probably benign Het
Pcsk6 T A 7: 65,578,875 (GRCm39) D129E probably benign Het
Pld5 G A 1: 175,798,100 (GRCm39) T433I probably benign Het
Plin1 A T 7: 79,371,347 (GRCm39) L459H probably benign Het
Psd4 T C 2: 24,284,499 (GRCm39) V121A probably damaging Het
Pxdn A T 12: 30,032,716 (GRCm39) I167F possibly damaging Het
R3hdm2 T C 10: 127,320,384 (GRCm39) S569P probably damaging Het
Rfng T A 11: 120,673,516 (GRCm39) T202S probably damaging Het
Robo1 T C 16: 72,730,696 (GRCm39) S266P probably benign Het
Sema3c G T 5: 17,858,804 (GRCm39) V68L probably damaging Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Slfn8 A G 11: 82,907,626 (GRCm39) Y306H possibly damaging Het
Snap91 T C 9: 86,720,105 (GRCm39) D144G probably damaging Het
St7l T G 3: 104,775,349 (GRCm39) F75C probably damaging Het
Stard10 A G 7: 100,992,468 (GRCm39) I145V probably damaging Het
Tekt3 C T 11: 62,968,999 (GRCm39) A242V probably damaging Het
Tex44 A G 1: 86,354,306 (GRCm39) probably benign Het
Thg1l T C 11: 45,844,988 (GRCm39) Q88R probably benign Het
Trav8n-2 T A 14: 53,583,744 (GRCm39) I67N probably damaging Het
Ttn G A 2: 76,677,770 (GRCm39) probably benign Het
Ube4a A T 9: 44,861,051 (GRCm39) L253* probably null Het
Uggt1 A T 1: 36,201,289 (GRCm39) N1150K probably damaging Het
Ush2a T A 1: 187,995,298 (GRCm39) L23* probably null Het
Usp22 T A 11: 61,065,602 (GRCm39) N37I probably benign Het
Usp53 T A 3: 122,743,390 (GRCm39) K515N probably damaging Het
Vmn2r4 T C 3: 64,322,702 (GRCm39) K6E probably benign Het
Vps13d C T 4: 144,875,918 (GRCm39) V1530M probably damaging Het
Vwa3b A G 1: 37,153,612 (GRCm39) I485V possibly damaging Het
Wnk4 T C 11: 101,155,156 (GRCm39) Y356H probably damaging Het
Zcchc2 A G 1: 105,917,900 (GRCm39) probably benign Het
Zfp345 A C 2: 150,315,010 (GRCm39) Y176D probably benign Het
Zfp598 T C 17: 24,896,850 (GRCm39) F238S possibly damaging Het
Zkscan17 T C 11: 59,393,820 (GRCm39) D10G probably damaging Het
Zmat4 T G 8: 24,392,083 (GRCm39) M13R 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
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'- CCTGCTATTTGGCTGGTCAG -3'
(R):5'- GTCTAAGAACATGAGTGATGACATG -3'

Sequencing Primer
(F):5'- CTCTGAAGTTTGGGAGAACCGTAC -3'
(R):5'- ACATGAAGGAGGTGGCTTTTTC -3'
Posted On 2018-02-27