Incidental Mutation 'R4194:Mical1'
ID 318490
Institutional Source Beutler Lab
Gene Symbol Mical1
Ensembl Gene ENSMUSG00000019823
Gene Name microtubule associated monooxygenase, calponin and LIM domain containing 1
Synonyms Nical
MMRRC Submission 041025-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4194 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 41352310-41363028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 41357624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 410 (F410L)
Ref Sequence ENSEMBL: ENSMUSP00000114969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019967] [ENSMUST00000099934] [ENSMUST00000119962] [ENSMUST00000126436] [ENSMUST00000151486]
AlphaFold Q8VDP3
Predicted Effect possibly damaging
Transcript: ENSMUST00000019967
AA Change: F410L

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: F410L

DomainStartEndE-ValueType
Pfam:FAD_binding_3 84 140 5.5e-8 PFAM
Pfam:FAD_binding_2 86 125 6.1e-6 PFAM
low complexity region 160 171 N/A INTRINSIC
CH 509 606 4.18e-13 SMART
low complexity region 649 666 N/A INTRINSIC
LIM 682 736 2.07e-3 SMART
low complexity region 766 785 N/A INTRINSIC
low complexity region 787 803 N/A INTRINSIC
low complexity region 855 877 N/A INTRINSIC
DUF3585 912 1048 3.07e-44 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000099934
AA Change: F337L

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: F337L

DomainStartEndE-ValueType
PDB:2C4C|B 1 86 5e-49 PDB
low complexity region 87 98 N/A INTRINSIC
PDB:2C4C|B 99 416 N/A PDB
CH 436 533 4.18e-13 SMART
low complexity region 576 593 N/A INTRINSIC
LIM 609 663 2.07e-3 SMART
low complexity region 693 712 N/A INTRINSIC
low complexity region 714 730 N/A INTRINSIC
low complexity region 782 804 N/A INTRINSIC
DUF3585 839 975 3.07e-44 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119962
AA Change: F410L

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: F410L

DomainStartEndE-ValueType
Pfam:FAD_binding_3 84 140 7.2e-8 PFAM
Pfam:FAD_binding_2 86 125 3.8e-6 PFAM
low complexity region 160 171 N/A INTRINSIC
CH 509 606 4.18e-13 SMART
low complexity region 649 666 N/A INTRINSIC
LIM 682 736 2.07e-3 SMART
low complexity region 766 785 N/A INTRINSIC
low complexity region 787 803 N/A INTRINSIC
low complexity region 855 877 N/A INTRINSIC
DUF3585 912 1048 3.07e-44 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125730
Predicted Effect possibly damaging
Transcript: ENSMUST00000126436
AA Change: F410L

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: F410L

DomainStartEndE-ValueType
Pfam:FAD_binding_3 84 140 1.1e-7 PFAM
Pfam:FAD_binding_2 86 125 3.2e-6 PFAM
low complexity region 160 171 N/A INTRINSIC
CH 509 606 4.18e-13 SMART
low complexity region 649 666 N/A INTRINSIC
LIM 682 736 2.07e-3 SMART
low complexity region 766 785 N/A INTRINSIC
low complexity region 787 803 N/A INTRINSIC
low complexity region 855 877 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136681
Predicted Effect probably benign
Transcript: ENSMUST00000151486
Meta Mutation Damage Score 0.3754 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 85,972,245 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,647,115 (GRCm39) V3142F probably damaging Het
Alms1 C T 6: 85,654,972 (GRCm39) Q3173* probably null Het
Ankrd26 A G 6: 118,500,639 (GRCm39) F944S probably benign Het
Arhgap11a G T 2: 113,672,339 (GRCm39) H210N probably benign Het
Brca1 T C 11: 101,416,113 (GRCm39) N674D probably benign Het
Bud13 T A 9: 46,209,793 (GRCm39) V634E probably damaging Het
Capn13 C T 17: 73,646,479 (GRCm39) M311I possibly damaging Het
Cdyl2 T C 8: 117,305,903 (GRCm39) probably null Het
Celsr3 T C 9: 108,720,501 (GRCm39) probably null Het
Col6a5 C G 9: 105,823,113 (GRCm39) E81D unknown Het
Ctbs C A 3: 146,156,368 (GRCm39) H38N probably benign Het
Ctnnd1 T C 2: 84,434,045 (GRCm39) D897G possibly damaging Het
Cyp2d41-ps T C 15: 82,666,154 (GRCm39) noncoding transcript Het
Dnttip2 G A 3: 122,074,410 (GRCm39) E616K probably damaging Het
Epb41l5 A T 1: 119,535,823 (GRCm39) S348R probably damaging Het
Fam185a A G 5: 21,630,452 (GRCm39) H96R probably benign Het
Fbxo11 T C 17: 88,316,536 (GRCm39) D279G possibly damaging Het
Gm3952 C A 8: 129,486,346 (GRCm39) G1578V probably damaging Het
Grb7 T A 11: 98,345,881 (GRCm39) probably benign Het
Grik1 A G 16: 87,743,616 (GRCm39) V537A probably benign Het
H2-Eb2 T A 17: 34,552,300 (GRCm39) N48K probably benign Het
Kank3 A G 17: 34,041,237 (GRCm39) probably benign Het
Kifap3 T C 1: 163,743,394 (GRCm39) S792P probably benign Het
Klhl35 A T 7: 99,123,058 (GRCm39) probably null Het
Lpxn T C 19: 12,810,599 (GRCm39) F348L probably damaging Het
Mef2d A G 3: 88,065,610 (GRCm39) Y114C possibly damaging Het
Mfap3 T A 11: 57,420,529 (GRCm39) L170H probably damaging Het
Mppe1 G A 18: 67,361,139 (GRCm39) S206F probably benign Het
Myo9b C T 8: 71,812,268 (GRCm39) A2013V possibly damaging Het
Phactr3 T C 2: 177,924,902 (GRCm39) V243A possibly damaging Het
Ppp4r4 T C 12: 103,524,704 (GRCm39) L92P probably damaging Het
Prss59 A T 6: 40,898,005 (GRCm39) V226E probably damaging Het
Rap1gds1 C T 3: 138,664,851 (GRCm39) D236N probably damaging Het
Rnf8 T C 17: 29,850,642 (GRCm39) probably benign Het
Rpl31-ps17 C T 12: 54,748,434 (GRCm39) noncoding transcript Het
Sfta2 T C 17: 35,939,057 (GRCm39) probably null Het
Sipa1l2 T A 8: 126,218,411 (GRCm39) T309S probably benign Het
Sos1 T C 17: 80,706,013 (GRCm39) D1186G probably benign Het
Sptb C A 12: 76,659,784 (GRCm39) V1039F probably benign Het
Sycp3 T C 10: 88,299,237 (GRCm39) V68A probably benign Het
Tas1r3 T C 4: 155,947,442 (GRCm39) E81G probably damaging Het
Ttc3 G A 16: 94,223,136 (GRCm39) R253H probably damaging Het
Ugt1a7c A G 1: 88,023,449 (GRCm39) T203A possibly damaging Het
Vtcn1 A T 3: 100,795,525 (GRCm39) E164V probably damaging Het
Zan T C 5: 137,461,817 (GRCm39) T1121A unknown Het
Zfp473 T C 7: 44,381,676 (GRCm39) I885V probably benign Het
Zfp990 A T 4: 145,263,547 (GRCm39) probably null Het
Other mutations in Mical1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Mical1 APN 10 41,355,065 (GRCm39) critical splice donor site probably null
IGL01594:Mical1 APN 10 41,356,325 (GRCm39) missense probably damaging 1.00
IGL02065:Mical1 APN 10 41,360,407 (GRCm39) missense possibly damaging 0.55
IGL02321:Mical1 APN 10 41,362,660 (GRCm39) missense possibly damaging 0.52
IGL02323:Mical1 APN 10 41,362,660 (GRCm39) missense possibly damaging 0.52
IGL02324:Mical1 APN 10 41,362,660 (GRCm39) missense possibly damaging 0.52
IGL02327:Mical1 APN 10 41,362,660 (GRCm39) missense possibly damaging 0.52
IGL02416:Mical1 APN 10 41,360,806 (GRCm39) critical splice donor site probably null
IGL02419:Mical1 APN 10 41,358,273 (GRCm39) missense possibly damaging 0.73
IGL03027:Mical1 APN 10 41,355,501 (GRCm39) unclassified probably benign
IGL03087:Mical1 APN 10 41,358,686 (GRCm39) missense probably damaging 1.00
IGL03368:Mical1 APN 10 41,355,625 (GRCm39) missense probably damaging 0.96
IGL03387:Mical1 APN 10 41,354,195 (GRCm39) missense probably damaging 1.00
PIT1430001:Mical1 UTSW 10 41,359,492 (GRCm39) missense possibly damaging 0.55
R0433:Mical1 UTSW 10 41,355,486 (GRCm39) missense probably benign 0.15
R0617:Mical1 UTSW 10 41,357,311 (GRCm39) missense probably damaging 0.97
R0638:Mical1 UTSW 10 41,358,235 (GRCm39) missense probably benign 0.01
R1535:Mical1 UTSW 10 41,361,207 (GRCm39) missense possibly damaging 0.55
R1623:Mical1 UTSW 10 41,357,389 (GRCm39) critical splice donor site probably null
R1712:Mical1 UTSW 10 41,356,359 (GRCm39) missense probably damaging 1.00
R1806:Mical1 UTSW 10 41,354,210 (GRCm39) missense probably damaging 0.96
R1835:Mical1 UTSW 10 41,359,531 (GRCm39) missense probably benign 0.00
R1866:Mical1 UTSW 10 41,361,466 (GRCm39) missense probably benign 0.39
R2134:Mical1 UTSW 10 41,358,708 (GRCm39) missense probably damaging 1.00
R2352:Mical1 UTSW 10 41,358,229 (GRCm39) missense probably benign 0.21
R3740:Mical1 UTSW 10 41,355,067 (GRCm39) missense probably benign 0.01
R4033:Mical1 UTSW 10 41,357,172 (GRCm39) missense probably benign 0.40
R4093:Mical1 UTSW 10 41,362,933 (GRCm39) unclassified probably benign
R4184:Mical1 UTSW 10 41,357,866 (GRCm39) unclassified probably benign
R4659:Mical1 UTSW 10 41,362,932 (GRCm39) unclassified probably benign
R5139:Mical1 UTSW 10 41,354,411 (GRCm39) splice site probably null
R5173:Mical1 UTSW 10 41,360,985 (GRCm39) missense probably damaging 1.00
R5340:Mical1 UTSW 10 41,359,427 (GRCm39) splice site probably null
R5501:Mical1 UTSW 10 41,362,075 (GRCm39) missense probably benign 0.01
R5560:Mical1 UTSW 10 41,354,961 (GRCm39) missense probably damaging 1.00
R5726:Mical1 UTSW 10 41,359,692 (GRCm39) unclassified probably benign
R5864:Mical1 UTSW 10 41,362,064 (GRCm39) missense possibly damaging 0.88
R5905:Mical1 UTSW 10 41,362,873 (GRCm39) missense probably benign 0.00
R6028:Mical1 UTSW 10 41,362,873 (GRCm39) missense probably benign 0.00
R6047:Mical1 UTSW 10 41,357,703 (GRCm39) critical splice donor site probably null
R6074:Mical1 UTSW 10 41,362,061 (GRCm39) missense probably benign 0.27
R6458:Mical1 UTSW 10 41,360,731 (GRCm39) missense probably benign 0.44
R6879:Mical1 UTSW 10 41,360,515 (GRCm39) missense probably damaging 0.99
R6966:Mical1 UTSW 10 41,355,750 (GRCm39) missense probably damaging 0.98
R7049:Mical1 UTSW 10 41,358,246 (GRCm39) missense possibly damaging 0.63
R7095:Mical1 UTSW 10 41,355,206 (GRCm39) splice site probably null
R7156:Mical1 UTSW 10 41,361,253 (GRCm39) critical splice donor site probably null
R7312:Mical1 UTSW 10 41,355,772 (GRCm39) critical splice donor site probably null
R8021:Mical1 UTSW 10 41,358,720 (GRCm39) missense probably damaging 0.97
R8056:Mical1 UTSW 10 41,357,168 (GRCm39) missense probably damaging 1.00
R8427:Mical1 UTSW 10 41,354,591 (GRCm39) missense probably damaging 1.00
R8883:Mical1 UTSW 10 41,355,636 (GRCm39) missense
R9021:Mical1 UTSW 10 41,361,141 (GRCm39) missense probably benign 0.43
R9368:Mical1 UTSW 10 41,357,302 (GRCm39) missense possibly damaging 0.76
R9526:Mical1 UTSW 10 41,358,602 (GRCm39) missense probably benign
R9651:Mical1 UTSW 10 41,362,022 (GRCm39) critical splice acceptor site probably null
X0020:Mical1 UTSW 10 41,354,992 (GRCm39) missense probably damaging 1.00
Z1177:Mical1 UTSW 10 41,357,701 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TATGGGTCCCACAGTTCAGG -3'
(R):5'- TGAGCAACTGCAGGGCTTTC -3'

Sequencing Primer
(F):5'- TCCCACAGTTCAGGAGGGAG -3'
(R):5'- AGGGCTTTCCTGTAGTCCCG -3'
Posted On 2015-06-10