Incidental Mutation 'R2124:Mtcl2'
ID 229638
Institutional Source Beutler Lab
Gene Symbol Mtcl2
Ensembl Gene ENSMUSG00000055485
Gene Name microtubule crosslinking factor 2
Synonyms 9830001H06Rik, D430036N24Rik, Soga1
MMRRC Submission 040127-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R2124 (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 156875245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 835 (E835G)
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: E835G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: E835G

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 0.0613 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (80/82)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adgrg6 T C 10: 14,342,930 (GRCm39) D339G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap3 A C 18: 38,106,403 (GRCm39) L1480R probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Aspg G A 12: 112,087,608 (GRCm39) V8I probably benign Het
Aven T A 2: 112,455,541 (GRCm39) W26R probably damaging Het
Car4 T A 11: 84,854,911 (GRCm39) probably benign Het
Cd163 C T 6: 124,295,815 (GRCm39) R720C probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cdh3 A T 8: 107,279,520 (GRCm39) H712L probably damaging Het
Cdr2 T C 7: 120,581,250 (GRCm39) E9G probably damaging Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Chrnb2 T C 3: 89,676,648 (GRCm39) probably benign Het
Col4a2 C A 8: 11,466,070 (GRCm39) P443Q probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Ddias T C 7: 92,507,464 (GRCm39) Q817R probably benign Het
Ddx6 C T 9: 44,535,816 (GRCm39) Q182* probably null Het
Dhrs7 A G 12: 72,699,951 (GRCm39) I227T probably damaging Het
Dhx8 A T 11: 101,653,071 (GRCm39) M970L probably damaging Het
Dnah7a A T 1: 53,536,101 (GRCm39) D2647E possibly damaging Het
Dstyk G A 1: 132,380,857 (GRCm39) G451R possibly damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Efl1 C T 7: 82,342,121 (GRCm39) R510C probably damaging Het
Eif4g3 A G 4: 137,912,053 (GRCm39) E1409G probably damaging Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fcgbp T C 7: 27,791,444 (GRCm39) Y902H probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gbp9 T A 5: 105,242,409 (GRCm39) D110V probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gm10542 T A 18: 44,334,355 (GRCm39) W9R probably null Het
Gpaa1 A G 15: 76,217,552 (GRCm39) Y330C probably damaging Het
Hectd4 T C 5: 121,456,702 (GRCm39) L689P probably damaging Het
Hoxd3 C A 2: 74,574,578 (GRCm39) P75T possibly damaging Het
Ikbkb A G 8: 23,156,036 (GRCm39) L570P probably damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Kidins220 G A 12: 25,091,302 (GRCm39) probably null Het
Kif1b T C 4: 149,306,753 (GRCm39) D869G probably benign Het
Loxl2 T C 14: 69,929,859 (GRCm39) Y746H probably benign Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Prkdc T C 16: 15,537,297 (GRCm39) V1716A probably benign Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Rims1 T A 1: 22,474,732 (GRCm39) R200* probably null Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Sall3 C T 18: 81,015,012 (GRCm39) G972D probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sdk1 C A 5: 142,170,943 (GRCm39) D1935E possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Syt16 T A 12: 74,285,009 (GRCm39) S401T probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tbcd A G 11: 121,494,146 (GRCm39) Y983C probably damaging Het
Tenm3 A G 8: 48,870,041 (GRCm39) probably null Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Top2a T C 11: 98,895,054 (GRCm39) I849V probably benign Het
Ttn A G 2: 76,624,792 (GRCm39) V13516A probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vmn2r84 A C 10: 130,227,100 (GRCm39) M246R probably damaging Het
Vps13b T A 15: 35,646,226 (GRCm39) N1443K probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp616 A G 11: 73,973,869 (GRCm39) probably null Het
Zmym1 T C 4: 126,943,363 (GRCm39) T244A 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
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
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'- AGTGTAGCTGCTGACAACC -3'
(R):5'- AGGTGACTCCCATCCAGTTTTC -3'

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