Incidental Mutation 'R2063:Mtcl1'
ID 228903
Institutional Source Beutler Lab
Gene Symbol Mtcl1
Ensembl Gene ENSMUSG00000052105
Gene Name microtubule crosslinking factor 1
Synonyms 1110012J17Rik, Soga2, t8219b25
MMRRC Submission 040068-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R2063 (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 66653350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1065 (R1065G)
Ref Sequence ENSEMBL: ENSMUSP00000135690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000145347] [ENSMUST00000177034]
AlphaFold Q3UHU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000086693
AA Change: R1368G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: R1368G

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 possibly damaging
Transcript: ENSMUST00000097291
AA Change: R1368G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: R1368G

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 possibly damaging
Transcript: ENSMUST00000145347
AA Change: R919G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: R919G

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: R1065G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: R1065G

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
9530002B09Rik T A 4: 122,583,115 (GRCm39) probably benign Het
Abca15 A T 7: 119,960,127 (GRCm39) T637S possibly damaging Het
Adgrv1 T C 13: 81,709,588 (GRCm39) K1135R possibly damaging Het
Afap1l1 A T 18: 61,872,193 (GRCm39) probably null Het
AI467606 A G 7: 126,692,009 (GRCm39) S195G probably damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Cic T A 7: 24,972,876 (GRCm39) V869E probably damaging Het
Cpsf2 A G 12: 101,949,722 (GRCm39) D118G probably damaging Het
Csnk1g1 A G 9: 65,909,512 (GRCm39) S210G probably damaging Het
Cyp2c40 T A 19: 39,775,224 (GRCm39) M343L probably benign Het
Cyp4a12b A T 4: 115,290,700 (GRCm39) D274V possibly damaging Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnah3 C T 7: 119,551,132 (GRCm39) M3062I probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Elavl2 A T 4: 91,141,687 (GRCm39) S278R possibly damaging Het
Emilin2 T C 17: 71,581,950 (GRCm39) S259G probably benign Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Faim2 G A 15: 99,412,314 (GRCm39) T140I probably damaging Het
Fbxo21 T C 5: 118,115,031 (GRCm39) S56P probably benign Het
Fgb C A 3: 82,956,996 (GRCm39) D25Y probably benign Het
Foxj2 A T 6: 122,817,200 (GRCm39) H509L probably benign Het
Fth1 T A 19: 9,961,576 (GRCm39) L49Q probably damaging Het
Gbp11 C A 5: 105,476,450 (GRCm39) E220* probably null Het
Gm12695 T C 4: 96,657,963 (GRCm39) T69A probably benign Het
Gm1527 C A 3: 28,980,796 (GRCm39) T632N probably benign Het
Gm4787 A T 12: 81,425,694 (GRCm39) S155T probably benign Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Helb T C 10: 119,941,671 (GRCm39) Y339C probably benign Het
Hs3st4 A G 7: 123,996,236 (GRCm39) I301V probably benign Het
Hunk A G 16: 90,290,368 (GRCm39) D382G probably damaging Het
Ifnb1 T A 4: 88,440,996 (GRCm39) I6F possibly damaging Het
Il10 T C 1: 130,947,770 (GRCm39) L41P probably damaging Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Invs T A 4: 48,396,287 (GRCm39) L320Q probably damaging Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Krt90 T C 15: 101,466,794 (GRCm39) E263G probably benign Het
Lama2 C T 10: 27,040,922 (GRCm39) C1467Y probably damaging Het
Maco1 A T 4: 134,555,590 (GRCm39) N294K possibly damaging Het
Med24 A G 11: 98,606,472 (GRCm39) L330P probably damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Mtmr14 G A 6: 113,217,322 (GRCm39) G38D probably damaging Het
Mtus1 T C 8: 41,535,745 (GRCm39) E657G probably damaging Het
Muc21 T A 17: 35,932,297 (GRCm39) probably benign Het
Myo5c A T 9: 75,189,150 (GRCm39) Q1020L probably benign Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nckap1 T C 2: 80,400,494 (GRCm39) K69R probably damaging Het
Nlrp1b T C 11: 71,051,912 (GRCm39) N1012D probably benign Het
Ntrk2 A C 13: 59,007,111 (GRCm39) K238Q probably damaging Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or52n2b T C 7: 104,565,982 (GRCm39) N174D probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pfpl C T 19: 12,407,237 (GRCm39) S496L probably damaging Het
Phc2 T C 4: 128,640,929 (GRCm39) F672S probably damaging Het
Pkhd1l1 A T 15: 44,414,148 (GRCm39) H2805L possibly damaging Het
Pla2g4a T C 1: 149,716,427 (GRCm39) N678S possibly damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Polr1a T G 6: 71,913,269 (GRCm39) probably null Het
Prl3d3 A C 13: 27,346,304 (GRCm39) E180D probably benign Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Prpf3 A T 3: 95,751,551 (GRCm39) D383E probably benign Het
Psmc4 A T 7: 27,748,322 (GRCm39) L73H probably damaging Het
Rapgef3 C A 15: 97,664,842 (GRCm39) G7V probably damaging Het
Rasl12 G A 9: 65,318,106 (GRCm39) G157R probably damaging Het
Rnf38 A C 4: 44,149,098 (GRCm39) V83G probably damaging Het
Rnls A C 19: 33,179,944 (GRCm39) S51A probably benign Het
Siglecf A G 7: 43,001,804 (GRCm39) T205A possibly damaging Het
Skint1 T A 4: 111,882,730 (GRCm39) V258D probably benign Het
Slc12a5 C T 2: 164,839,067 (GRCm39) R1072W probably damaging Het
Spata13 GTTAGGCT GT 14: 60,998,320 (GRCm39) probably benign Het
Specc1 T G 11: 62,009,122 (GRCm39) S293A probably benign Het
Speer2 T G 16: 69,657,385 (GRCm39) Q86P probably benign Het
Tbc1d15 T C 10: 115,065,078 (GRCm39) D169G probably benign Het
Tbx20 C A 9: 24,681,067 (GRCm39) E142* probably null Het
Tcp1 T A 17: 13,139,699 (GRCm39) L199H probably damaging Het
Tex26 A T 5: 149,363,204 (GRCm39) R5W probably damaging Het
Tg C A 15: 66,700,402 (GRCm39) A120E probably damaging Het
Thrap3 T C 4: 126,069,189 (GRCm39) Y654C possibly damaging Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ush1c T C 7: 45,878,905 (GRCm39) Y74C probably damaging Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vmn2r120 T A 17: 57,831,553 (GRCm39) H412L possibly damaging Het
Vps54 C T 11: 21,227,955 (GRCm39) T176I probably damaging Het
Wdr95 T C 5: 149,502,627 (GRCm39) probably null Het
Zfp81 T C 17: 33,554,278 (GRCm39) T179A 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
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'- CAAGTCCAACACCTCGTGGATG -3'
(R):5'- TACTGGTCGGCTTCAAAGGG -3'

Sequencing Primer
(F):5'- CCAACACCTCGTGGATGGAGAG -3'
(R):5'- TCGGCTTCAAAGGGCTCAG -3'
Posted On 2014-09-17