Incidental Mutation 'R0113:Mtcl1'
ID 20612
Institutional Source Beutler Lab
Gene Symbol Mtcl1
Ensembl Gene ENSMUSG00000052105
Gene Name microtubule crosslinking factor 1
Synonyms 1110012J17Rik, Soga2, t8219b25
MMRRC Submission 038399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R0113 (G1)
Quality Score 174
Status Validated (trace)
Chromosome 17
Chromosomal Location 66643977-66756745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 66661237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1225 (Q1225K)
Ref Sequence ENSEMBL: ENSMUSP00000094894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000177034] [ENSMUST00000145347]
AlphaFold Q3UHU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000086693
AA Change: Q1225K

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: Q1225K

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: Q1225K

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: Q1225K

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: 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: Q914K

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: Q914K

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: Q776K

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: Q776K

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
Meta Mutation Damage Score 0.0757 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik A G 8: 10,976,126 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,242,114 (GRCm39) I1326F possibly damaging Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Aspscr1 C G 11: 120,579,751 (GRCm39) Q97E probably damaging Het
Atad2 A G 15: 57,984,330 (GRCm39) probably benign Het
Atcay A T 10: 81,050,554 (GRCm39) probably null Het
Brme1 C T 8: 84,893,871 (GRCm39) T311I probably damaging Het
C4b T A 17: 34,960,214 (GRCm39) Y279F probably damaging Het
Cav1 A T 6: 17,308,048 (GRCm39) S67C possibly damaging Het
Ceacam23 G A 7: 17,642,873 (GRCm39) noncoding transcript Het
Celf2 A C 2: 6,629,525 (GRCm39) H113Q probably damaging Het
Cep170 A C 1: 176,586,021 (GRCm39) N590K probably damaging Het
Ces1f A T 8: 94,006,327 (GRCm39) M1K probably null Het
Chrna1 C A 2: 73,397,180 (GRCm39) D370Y possibly damaging Het
Csmd1 C A 8: 16,034,849 (GRCm39) G2441C probably damaging Het
D630003M21Rik C T 2: 158,038,495 (GRCm39) D984N possibly damaging Het
Dhrs1 T C 14: 55,977,396 (GRCm39) T241A probably benign Het
Edar A C 10: 58,465,271 (GRCm39) C31G probably damaging Het
Eps8 A G 6: 137,514,682 (GRCm39) S24P possibly damaging Het
Fam149a T C 8: 45,794,061 (GRCm39) E669G probably damaging Het
Fcrla A T 1: 170,749,868 (GRCm39) M1K probably null Het
G3bp1 T A 11: 55,386,252 (GRCm39) V237E probably benign Het
Galnt5 A G 2: 57,888,889 (GRCm39) E163G probably benign Het
Gpr87 T C 3: 59,086,932 (GRCm39) D192G possibly damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Ints1 T C 5: 139,750,968 (GRCm39) T810A Het
Kalrn A G 16: 33,870,306 (GRCm39) probably benign Het
Kcnk6 T C 7: 28,931,634 (GRCm39) D92G probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mfsd6 A T 1: 52,748,348 (GRCm39) N172K probably damaging Het
Nav2 C T 7: 49,185,701 (GRCm39) T948M probably damaging Het
Nfic T C 10: 81,256,419 (GRCm39) K104E probably damaging Het
Nup58 G A 14: 60,488,740 (GRCm39) probably benign Het
Nwd2 A T 5: 63,965,241 (GRCm39) K1608N probably damaging Het
Or10n1 T A 9: 39,525,298 (GRCm39) I145K probably benign Het
Or1j21 G A 2: 36,684,006 (GRCm39) G253R probably damaging Het
Or1j21 G T 2: 36,684,007 (GRCm39) G253V probably damaging Het
Phf21b T C 15: 84,688,968 (GRCm39) D186G probably damaging Het
Poli C T 18: 70,661,829 (GRCm39) C57Y probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Psg23 T C 7: 18,345,927 (GRCm39) Y256C probably benign Het
Satb1 C A 17: 52,089,726 (GRCm39) E374* probably null Het
Scn4a C T 11: 106,236,262 (GRCm39) E333K probably benign Het
Sec14l2 C T 11: 4,053,661 (GRCm39) probably benign Het
Slain1 T C 14: 103,923,261 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Syne2 T C 12: 75,977,352 (GRCm39) S1266P probably damaging Het
Syne2 A G 12: 76,080,496 (GRCm39) E4810G probably damaging Het
Tbck T C 3: 132,448,841 (GRCm39) I618T probably damaging Het
Tmem132d A T 5: 127,861,657 (GRCm39) N821K probably benign Het
Trim28 T A 7: 12,762,628 (GRCm39) V381E probably damaging Het
Ttc1 T C 11: 43,636,115 (GRCm39) S43G probably benign Het
Ube2u A G 4: 100,338,852 (GRCm39) E39G possibly damaging Het
Urb2 T C 8: 124,757,665 (GRCm39) V1124A probably benign Het
Usp13 A G 3: 32,872,025 (GRCm39) probably benign Het
Vmn1r216 A T 13: 23,283,631 (GRCm39) S105C probably damaging Het
Yipf2 T C 9: 21,501,412 (GRCm39) T23A probably damaging Het
Zfp521 G A 18: 13,978,148 (GRCm39) T755M probably damaging Het
Zfp619 T A 7: 39,187,183 (GRCm39) M1071K probably benign Het
Zfp942 A T 17: 22,148,066 (GRCm39) C188S 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
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
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'- ATCTATGAGCTGCGCTGTGCTCTG -3'
(R):5'- GTCGATAACTGAGCTGTCTTTCCCC -3'

Sequencing Primer
(F):5'- ACAGGAGCTCCTCCTTCTG -3'
(R):5'- TCCAATGCTGGACTTCCAGAAAG -3'
Posted On 2013-04-11