Incidental Mutation 'R5780:Mtcl2'
ID 446917
Institutional Source Beutler Lab
Gene Symbol Mtcl2
Ensembl Gene ENSMUSG00000055485
Gene Name microtubule crosslinking factor 2
Synonyms 9830001H06Rik, D430036N24Rik, Soga1
MMRRC Submission 043205-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R5780 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156857719-156921174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156860410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 1610 (C1610R)
Ref Sequence ENSEMBL: ENSMUSP00000066556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069098]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069098
AA Change: C1610R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: C1610R

DomainStartEndE-ValueType
low complexity region 15 23 N/A INTRINSIC
low complexity region 51 66 N/A INTRINSIC
low complexity region 97 112 N/A INTRINSIC
low complexity region 132 148 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
Blast:BRLZ 212 246 4e-8 BLAST
SCOP:d1fxkc_ 216 350 1e-3 SMART
Pfam:DUF3166 378 472 2.3e-31 PFAM
Pfam:DUF3166 504 593 5.3e-31 PFAM
low complexity region 637 649 N/A INTRINSIC
coiled coil region 807 867 N/A INTRINSIC
low complexity region 872 884 N/A INTRINSIC
low complexity region 938 950 N/A INTRINSIC
Pfam:DUF4482 1065 1205 3.9e-28 PFAM
low complexity region 1311 1321 N/A INTRINSIC
low complexity region 1363 1377 N/A INTRINSIC
low complexity region 1389 1418 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153229
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik C T 1: 85,646,039 (GRCm39) A189T probably benign Het
Acsm4 A G 7: 119,293,068 (GRCm39) E66G possibly damaging Het
Afm A G 5: 90,699,290 (GRCm39) E578G possibly damaging Het
Alox5 A T 6: 116,397,310 (GRCm39) D291E probably benign Het
Apoa4 A G 9: 46,153,890 (GRCm39) M164V possibly damaging Het
Atp6v1a A T 16: 43,935,006 (GRCm39) M61K probably benign Het
Avp A G 2: 130,422,629 (GRCm39) S159P probably benign Het
Bicra A T 7: 15,713,679 (GRCm39) L841Q possibly damaging Het
Cdk5rap1 CTT CT 2: 154,187,788 (GRCm39) probably null Het
Clasp2 T G 9: 113,679,220 (GRCm39) L246R probably damaging Het
Dhdds G A 4: 133,724,141 (GRCm39) L58F probably damaging Het
Dmkn A G 7: 30,477,040 (GRCm39) D227G probably damaging Het
Dnah7a G A 1: 53,522,478 (GRCm39) A2920V probably benign Het
Epb41l1 C T 2: 156,338,445 (GRCm39) R163W probably damaging Het
Etfbkmt T A 6: 149,048,657 (GRCm39) Y99N probably damaging Het
Fat4 T C 3: 39,035,104 (GRCm39) Y2919H probably damaging Het
Fcgbp T A 7: 27,784,643 (GRCm39) D234E probably benign Het
Frem1 T C 4: 82,868,652 (GRCm39) D1443G probably benign Het
Fscn2 A C 11: 120,257,494 (GRCm39) E285A probably benign Het
Hmga2 T A 10: 120,298,583 (GRCm39) R79* probably null Het
Hrh3 A T 2: 179,742,608 (GRCm39) V308E probably damaging Het
Hsd11b2 G A 8: 106,248,787 (GRCm39) G93D probably damaging Het
Hydin T C 8: 111,312,712 (GRCm39) F4151S probably damaging Het
Ica1l C A 1: 60,067,374 (GRCm39) E5D probably benign Het
Kcnma1 C A 14: 23,436,419 (GRCm39) E640* probably null Het
Mdn1 C T 4: 32,722,950 (GRCm39) H2422Y probably benign Het
Mgarp T C 3: 51,299,269 (GRCm39) T47A probably damaging Het
Mmp13 T G 9: 7,278,952 (GRCm39) F348V possibly damaging Het
Mov10l1 A G 15: 88,896,181 (GRCm39) D675G probably benign Het
Nxpe3 T A 16: 55,686,804 (GRCm39) Q68L probably damaging Het
Or4k41 A T 2: 111,280,178 (GRCm39) D231V probably benign Het
Or6c208 T C 10: 129,223,939 (GRCm39) S146P probably damaging Het
Or7e175 T A 9: 20,048,793 (GRCm39) M127K probably damaging Het
Pald1 A T 10: 61,174,997 (GRCm39) I751N probably damaging Het
Pramel19 C T 4: 101,798,724 (GRCm39) L232F probably damaging Het
Prickle2 T C 6: 92,435,593 (GRCm39) T3A probably benign Het
Ros1 A T 10: 52,070,953 (GRCm39) C34S probably damaging Het
Sema3f A G 9: 107,559,788 (GRCm39) L702P probably damaging Het
Sptbn2 T A 19: 4,774,695 (GRCm39) L116Q probably damaging Het
Stard9 T C 2: 120,533,877 (GRCm39) V3378A probably benign Het
Sycp2l A G 13: 41,282,976 (GRCm39) I158V possibly damaging Het
Tbc1d10b G A 7: 126,797,925 (GRCm39) R739W possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Ube4b C T 4: 149,415,821 (GRCm39) R1091Q probably benign Het
Vwce C A 19: 10,627,983 (GRCm39) P481Q probably damaging Het
Zfp1005 T A 2: 150,108,139 (GRCm39) M33K probably benign Het
Other mutations in Mtcl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Mtcl2 APN 2 156,872,784 (GRCm39) missense probably damaging 1.00
IGL00924:Mtcl2 APN 2 156,882,625 (GRCm39) missense probably damaging 0.99
IGL01723:Mtcl2 APN 2 156,872,534 (GRCm39) missense probably benign 0.00
IGL01749:Mtcl2 APN 2 156,863,461 (GRCm39) splice site probably benign
IGL02199:Mtcl2 APN 2 156,872,865 (GRCm39) missense probably damaging 1.00
IGL02262:Mtcl2 APN 2 156,872,826 (GRCm39) missense probably damaging 1.00
IGL02618:Mtcl2 APN 2 156,882,486 (GRCm39) missense probably damaging 1.00
IGL02643:Mtcl2 APN 2 156,882,663 (GRCm39) missense probably damaging 1.00
deglutition UTSW 2 156,881,784 (GRCm39) missense possibly damaging 0.63
gulp UTSW 2 156,865,737 (GRCm39) nonsense probably null
IGL02835:Mtcl2 UTSW 2 156,883,854 (GRCm39) missense possibly damaging 0.91
R0528:Mtcl2 UTSW 2 156,862,612 (GRCm39) missense probably damaging 1.00
R0535:Mtcl2 UTSW 2 156,875,209 (GRCm39) missense possibly damaging 0.89
R0726:Mtcl2 UTSW 2 156,902,182 (GRCm39) missense probably damaging 1.00
R1473:Mtcl2 UTSW 2 156,862,368 (GRCm39) nonsense probably null
R1589:Mtcl2 UTSW 2 156,869,557 (GRCm39) missense probably benign 0.05
R1615:Mtcl2 UTSW 2 156,862,663 (GRCm39) missense probably damaging 1.00
R1681:Mtcl2 UTSW 2 156,872,450 (GRCm39) missense possibly damaging 0.70
R1701:Mtcl2 UTSW 2 156,872,539 (GRCm39) missense probably damaging 1.00
R1872:Mtcl2 UTSW 2 156,882,181 (GRCm39) missense possibly damaging 0.88
R2056:Mtcl2 UTSW 2 156,864,747 (GRCm39) missense probably benign 0.00
R2118:Mtcl2 UTSW 2 156,875,245 (GRCm39) missense probably damaging 1.00
R2120:Mtcl2 UTSW 2 156,875,245 (GRCm39) missense probably damaging 1.00
R2121:Mtcl2 UTSW 2 156,875,245 (GRCm39) missense probably damaging 1.00
R2124:Mtcl2 UTSW 2 156,875,245 (GRCm39) missense probably damaging 1.00
R2249:Mtcl2 UTSW 2 156,882,013 (GRCm39) missense probably benign 0.08
R3147:Mtcl2 UTSW 2 156,862,284 (GRCm39) missense possibly damaging 0.91
R3758:Mtcl2 UTSW 2 156,862,558 (GRCm39) missense possibly damaging 0.77
R4601:Mtcl2 UTSW 2 156,881,844 (GRCm39) missense probably benign 0.41
R4646:Mtcl2 UTSW 2 156,862,426 (GRCm39) missense probably damaging 1.00
R4653:Mtcl2 UTSW 2 156,882,511 (GRCm39) missense probably damaging 1.00
R4736:Mtcl2 UTSW 2 156,862,474 (GRCm39) missense probably damaging 1.00
R4773:Mtcl2 UTSW 2 156,872,489 (GRCm39) missense probably benign 0.08
R4796:Mtcl2 UTSW 2 156,862,172 (GRCm39) missense probably benign
R4999:Mtcl2 UTSW 2 156,864,776 (GRCm39) missense probably benign 0.10
R5304:Mtcl2 UTSW 2 156,865,737 (GRCm39) nonsense probably null
R5369:Mtcl2 UTSW 2 156,882,654 (GRCm39) missense probably damaging 1.00
R5530:Mtcl2 UTSW 2 156,862,262 (GRCm39) missense probably damaging 1.00
R5712:Mtcl2 UTSW 2 156,872,841 (GRCm39) missense probably damaging 1.00
R6162:Mtcl2 UTSW 2 156,881,784 (GRCm39) missense possibly damaging 0.63
R6253:Mtcl2 UTSW 2 156,863,339 (GRCm39) missense probably benign 0.00
R6303:Mtcl2 UTSW 2 156,882,684 (GRCm39) missense possibly damaging 0.91
R6304:Mtcl2 UTSW 2 156,882,684 (GRCm39) missense possibly damaging 0.91
R6523:Mtcl2 UTSW 2 156,902,263 (GRCm39) nonsense probably null
R7216:Mtcl2 UTSW 2 156,860,290 (GRCm39) missense possibly damaging 0.76
R7335:Mtcl2 UTSW 2 156,872,925 (GRCm39) missense possibly damaging 0.86
R7562:Mtcl2 UTSW 2 156,895,509 (GRCm39) missense probably damaging 1.00
R7593:Mtcl2 UTSW 2 156,882,776 (GRCm39) missense probably benign 0.40
R7788:Mtcl2 UTSW 2 156,869,504 (GRCm39) missense probably benign 0.09
R8013:Mtcl2 UTSW 2 156,872,706 (GRCm39) critical splice donor site probably null
R8263:Mtcl2 UTSW 2 156,869,510 (GRCm39) missense possibly damaging 0.94
R8299:Mtcl2 UTSW 2 156,862,651 (GRCm39) missense possibly damaging 0.93
R8814:Mtcl2 UTSW 2 156,872,451 (GRCm39) nonsense probably null
R9222:Mtcl2 UTSW 2 156,881,919 (GRCm39) missense probably benign 0.08
R9563:Mtcl2 UTSW 2 156,902,182 (GRCm39) missense probably damaging 1.00
R9607:Mtcl2 UTSW 2 156,869,488 (GRCm39) missense probably damaging 0.96
R9645:Mtcl2 UTSW 2 156,869,390 (GRCm39) missense probably damaging 1.00
R9690:Mtcl2 UTSW 2 156,862,134 (GRCm39) missense probably benign 0.06
R9727:Mtcl2 UTSW 2 156,862,168 (GRCm39) missense possibly damaging 0.89
X0019:Mtcl2 UTSW 2 156,862,184 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATTCCTCCTGGATGGACTGAGG -3'
(R):5'- CTGTGCCTTGCAGACTTTATTAG -3'

Sequencing Primer
(F):5'- TGAGGACACGAGCCCTTG -3'
(R):5'- AGAATGTGGATCCATTGTTGCCC -3'
Posted On 2016-12-15