Incidental Mutation 'R7479:Mtcl1'
ID 579704
Institutional Source Beutler Lab
Gene Symbol Mtcl1
Ensembl Gene ENSMUSG00000052105
Gene Name microtubule crosslinking factor 1
Synonyms 1110012J17Rik, Soga2, t8219b25
MMRRC Submission 045553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R7479 (G1)
Quality Score 216.009
Status Not validated
Chromosome 17
Chromosomal Location 66643977-66756745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66686485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 807 (V807A)
Ref Sequence ENSEMBL: ENSMUSP00000083899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000145347] [ENSMUST00000177034]
AlphaFold Q3UHU5
Predicted Effect probably benign
Transcript: ENSMUST00000086693
AA Change: V807A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: V807A

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: V807A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: V807A

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 probably benign
Transcript: ENSMUST00000145347
AA Change: V358A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: V358A

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 benign
Transcript: ENSMUST00000177034
AA Change: V455A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: V455A

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: 99.5%
  • 20x: 98.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,142 (GRCm39) M81L probably benign Het
Ano9 T C 7: 140,682,348 (GRCm39) T667A probably damaging Het
Anpep T A 7: 79,485,118 (GRCm39) I623F probably benign Het
Apba2 T C 7: 64,389,607 (GRCm39) I501T possibly damaging Het
Ascc3 T A 10: 50,525,895 (GRCm39) Y536N probably damaging Het
B4galt1 T C 4: 40,823,587 (GRCm39) Y168C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2 A G 17: 35,082,441 (GRCm39) C647R probably damaging Het
Cnot4 G A 6: 35,001,083 (GRCm39) T604I probably benign Het
Col11a1 C T 3: 113,896,218 (GRCm39) T506I unknown Het
Cr2 A C 1: 194,840,718 (GRCm39) probably null Het
Ctsm A T 13: 61,685,569 (GRCm39) V281D probably damaging Het
Cyp2c69 T C 19: 39,870,001 (GRCm39) I74V probably benign Het
Dennd4c T A 4: 86,717,590 (GRCm39) V529D probably damaging Het
Dlgap3 C A 4: 127,088,418 (GRCm39) H5N possibly damaging Het
Dusp10 C A 1: 183,769,617 (GRCm39) H194Q probably damaging Het
Eln C G 5: 134,736,429 (GRCm39) G753A unknown Het
Emb T A 13: 117,385,962 (GRCm39) N118K possibly damaging Het
Fam184a C T 10: 53,531,110 (GRCm39) V755I probably benign Het
Fryl A G 5: 73,254,904 (GRCm39) I846T possibly damaging Het
Gabbr2 T A 4: 46,681,166 (GRCm39) I722F probably damaging Het
Gabrb3 T A 7: 57,474,171 (GRCm39) D362E possibly damaging Het
Galnt2 G A 8: 125,061,077 (GRCm39) G357D probably damaging Het
Gbx2 A T 1: 89,858,373 (GRCm39) S35R probably benign Het
Glg1 A G 8: 111,924,367 (GRCm39) I207T possibly damaging Het
Gm10192 A T 4: 97,071,272 (GRCm39) N44K unknown Het
Gpd1 A G 15: 99,617,984 (GRCm39) D123G probably benign Het
Grm2 A T 9: 106,531,050 (GRCm39) D146E possibly damaging Het
Gsg1l2 A G 11: 67,676,032 (GRCm39) D132G probably benign Het
Hecw1 C T 13: 14,515,425 (GRCm39) G236R probably damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hspg2 C T 4: 137,266,714 (GRCm39) A1934V probably benign Het
Il7r C T 15: 9,513,117 (GRCm39) A131T probably damaging Het
Itga6 C T 2: 71,668,680 (GRCm39) R540* probably null Het
Kcnh2 A G 5: 24,530,490 (GRCm39) probably null Het
Kcnq4 C T 4: 120,573,022 (GRCm39) A260T probably damaging Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrrc41 C T 4: 115,946,238 (GRCm39) P318S probably damaging Het
Map4 G A 9: 109,897,892 (GRCm39) G873R possibly damaging Het
Med24 A G 11: 98,595,787 (GRCm39) I968T possibly damaging Het
Mfap5 T C 6: 122,503,821 (GRCm39) probably null Het
Mug1 T A 6: 121,855,467 (GRCm39) S934T possibly damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Nkx2-4 T C 2: 146,926,088 (GRCm39) E258G probably benign Het
Polr1a T A 6: 71,913,281 (GRCm39) V545E probably damaging Het
Ppp1r9b A G 11: 94,882,858 (GRCm39) D162G possibly damaging Het
Rhot2 A G 17: 26,059,723 (GRCm39) L367P probably damaging Het
Ripk2 A G 4: 16,155,154 (GRCm39) F122L probably benign Het
Scn11a T C 9: 119,588,941 (GRCm39) T1322A probably benign Het
Scn8a T A 15: 100,853,358 (GRCm39) L115Q probably damaging Het
Sel1l3 G T 5: 53,274,462 (GRCm39) P1006Q probably damaging Het
Septin11 A T 5: 93,304,804 (GRCm39) N207I probably damaging Het
Sez6l2 C T 7: 126,562,831 (GRCm39) T669I probably damaging Het
Sfxn4 T A 19: 60,847,112 (GRCm39) D57V possibly damaging Het
Smarca2 T A 19: 26,617,887 (GRCm39) V306D probably benign Het
Srgap3 C T 6: 112,712,794 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,541 (GRCm39) F7L not run Het
Tbcd T C 11: 121,383,431 (GRCm39) probably null Het
Tcn2 G A 11: 3,867,703 (GRCm39) A413V probably damaging Het
Tdp1 T C 12: 99,857,654 (GRCm39) V71A probably benign Het
Tjp1 T C 7: 64,950,928 (GRCm39) T1649A probably damaging Het
Tnc T C 4: 63,935,865 (GRCm39) E357G possibly damaging Het
Tnrc6b A G 15: 80,773,327 (GRCm39) T1158A probably benign Het
Ttn C A 2: 76,568,952 (GRCm39) E27314* probably null Het
Vps35 G T 8: 85,997,434 (GRCm39) T512K probably benign Het
Zfp40 A T 17: 23,396,292 (GRCm39) S98R probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp945 A T 17: 23,070,340 (GRCm39) C541S possibly damaging Het
Zfp976 T A 7: 42,262,603 (GRCm39) E412D 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
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'- CTGAAAGCCTTCATCCTCACATTG -3'
(R):5'- ACAGTGATGCCGAGAGTGAC -3'

Sequencing Primer
(F):5'- CACATTGATGGTCTCCAACAAGTGG -3'
(R):5'- AGAGTGACGCGGGCAAG -3'
Posted On 2019-10-07