Incidental Mutation 'R5369:Mtcl2'
ID 429522
Institutional Source Beutler Lab
Gene Symbol Mtcl2
Ensembl Gene ENSMUSG00000055485
Gene Name microtubule crosslinking factor 2
Synonyms 9830001H06Rik, D430036N24Rik, Soga1
MMRRC Submission 042946-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R5369 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156857719-156921174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156882654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 466 (E466G)
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: E466G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: E466G

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: ENSMUST00000133571
Meta Mutation Damage Score 0.1493 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
Asb15 T C 6: 24,562,563 (GRCm39) V175A probably benign Het
B3galnt2 T C 13: 14,169,010 (GRCm39) probably null Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Colec12 A G 18: 9,866,750 (GRCm39) I654V unknown Het
Dip2a A G 10: 76,128,194 (GRCm39) I22T probably damaging Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
F12 T C 13: 55,566,304 (GRCm39) E496G probably benign Het
Fam227a A T 15: 79,499,637 (GRCm39) S573T probably benign Het
Fnip1 T C 11: 54,393,415 (GRCm39) V593A probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Ints6 T C 14: 62,981,384 (GRCm39) T135A probably damaging Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V probably damaging 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
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
R5780:Mtcl2 UTSW 2 156,860,410 (GRCm39) missense probably damaging 0.98
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'- GCAGCAACTTGTTCTGGTCC -3'
(R):5'- CACCAAGTTGGCTAAGGAGAAC -3'

Sequencing Primer
(F):5'- TGGTCCTCCAGCTCAGC -3'
(R):5'- TTGGCTAAGGAGAACGACAGC -3'
Posted On 2016-09-06