Incidental Mutation 'R1623:Mical1'
ID 174800
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 039660-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R1623 (G1)
Quality Score 147
Status Not validated
Chromosome 10
Chromosomal Location 41352310-41363028 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 41357389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019967] [ENSMUST00000099934] [ENSMUST00000119962] [ENSMUST00000126436] [ENSMUST00000151486]
AlphaFold Q8VDP3
Predicted Effect probably null
Transcript: ENSMUST00000019967
SMART Domains Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823

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 probably null
Transcript: ENSMUST00000099934
SMART Domains Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823

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 probably null
Transcript: ENSMUST00000119962
SMART Domains Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823

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 probably benign
Transcript: ENSMUST00000126436
SMART Domains Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823

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: ENSMUST00000138657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136681
Predicted Effect probably benign
Transcript: ENSMUST00000151486
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 94.9%
  • 20x: 87.6%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A T 2: 22,984,356 (GRCm39) D294V probably damaging Het
Actn2 A T 13: 12,355,320 (GRCm39) I21N probably benign Het
Adamts2 C A 11: 50,558,942 (GRCm39) P219H possibly damaging Het
Atg16l2 A G 7: 100,939,113 (GRCm39) F584L probably benign Het
Ccdc81 C T 7: 89,535,390 (GRCm39) R282Q probably benign Het
Ccn4 G T 15: 66,763,448 (GRCm39) V12L possibly damaging Het
Cd200r3 G A 16: 44,771,811 (GRCm39) C25Y possibly damaging Het
Cdkl4 C T 17: 80,863,731 (GRCm39) probably null Het
Chrne T C 11: 70,509,254 (GRCm39) E109G possibly damaging Het
Clmp A G 9: 40,693,856 (GRCm39) T358A probably benign Het
Cmtr1 G T 17: 29,906,021 (GRCm39) probably null Het
Col25a1 A G 3: 130,343,699 (GRCm39) E389G probably damaging Het
Ctc1 C T 11: 68,911,968 (GRCm39) T49M probably damaging Het
Cyth3 T A 5: 143,687,127 (GRCm39) M120K probably damaging Het
D430041D05Rik T A 2: 103,983,308 (GRCm39) E1996V probably damaging Het
Dnah9 T C 11: 65,928,463 (GRCm39) M2069V probably damaging Het
Dsg1c T C 18: 20,408,234 (GRCm39) Y428H probably damaging Het
Exosc8 T A 3: 54,641,752 (GRCm39) T7S probably damaging Het
F5 A G 1: 164,023,191 (GRCm39) Y1583C probably damaging Het
Fam178b A G 1: 36,683,405 (GRCm39) I105T probably damaging Het
Fam181a T A 12: 103,282,591 (GRCm39) Y165* probably null Het
Fbn2 G T 18: 58,181,620 (GRCm39) N1880K possibly damaging Het
Gbgt1 A T 2: 28,394,988 (GRCm39) M209L probably benign Het
Gkn2 C A 6: 87,355,152 (GRCm39) Y120* probably null Het
Gm14295 T A 2: 176,499,157 (GRCm39) D1E probably damaging Het
Gpr141 A T 13: 19,936,082 (GRCm39) probably null Het
Gramd2b C A 18: 56,565,423 (GRCm39) P26Q probably benign Het
Greb1 A G 12: 16,724,771 (GRCm39) I1801T probably damaging Het
Gstm3 T A 3: 107,875,151 (GRCm39) I64F possibly damaging Het
Gtse1 A G 15: 85,751,779 (GRCm39) Y324C probably benign Het
Hal C G 10: 93,352,159 (GRCm39) T650R probably benign Het
Hdac7 G A 15: 97,706,285 (GRCm39) Q293* probably null Het
Hdlbp A T 1: 93,351,591 (GRCm39) N437K probably damaging Het
Hif1an A G 19: 44,557,862 (GRCm39) D248G probably damaging Het
Hivep3 T C 4: 119,952,901 (GRCm39) S406P possibly damaging Het
Hmcn2 A T 2: 31,348,051 (GRCm39) D4899V possibly damaging Het
Ikzf3 C T 11: 98,381,157 (GRCm39) probably null Het
Inka2 G A 3: 105,624,136 (GRCm39) G151D probably damaging Het
Itgb4 C A 11: 115,882,142 (GRCm39) Y819* probably null Het
Itpripl1 T C 2: 126,983,555 (GRCm39) D189G possibly damaging Het
Kmt2e A G 5: 23,687,500 (GRCm39) Y450C probably damaging Het
Mc4r A G 18: 66,993,068 (GRCm39) L15P probably benign Het
Mical3 C T 6: 121,001,768 (GRCm39) V575M probably damaging Het
Mki67 A T 7: 135,310,547 (GRCm39) probably null Het
Mocs2 G A 13: 114,961,158 (GRCm39) E52K probably benign Het
Myo7b T C 18: 32,133,104 (GRCm39) N415S probably damaging Het
Notch1 G A 2: 26,368,624 (GRCm39) T555I possibly damaging Het
Notch3 T C 17: 32,358,165 (GRCm39) D1686G probably benign Het
Oit3 A G 10: 59,264,061 (GRCm39) F358L probably damaging Het
Or10x1 A C 1: 174,196,515 (GRCm39) I11L probably benign Het
Or6k4 A T 1: 173,964,883 (GRCm39) D191V probably damaging Het
Orai1 T A 5: 123,167,265 (GRCm39) I146N probably damaging Het
Pck1 A G 2: 172,996,511 (GRCm39) I142V probably benign Het
Pdap1 C T 5: 145,069,739 (GRCm39) V89M possibly damaging Het
Phf11a T C 14: 59,525,000 (GRCm39) D68G possibly damaging Het
Pilrb2 T C 5: 137,869,510 (GRCm39) N30S probably damaging Het
Pkd1 G A 17: 24,797,243 (GRCm39) V2551I probably damaging Het
Pnpla7 T C 2: 24,942,611 (GRCm39) V132A probably damaging Het
Prr35 G A 17: 26,166,508 (GRCm39) P343L probably benign Het
Rad18 C T 6: 112,605,480 (GRCm39) S398N probably damaging Het
Rdh16f1 C A 10: 127,626,722 (GRCm39) N258K probably benign Het
Riox2 A G 16: 59,303,405 (GRCm39) H240R probably damaging Het
Ruvbl1 C T 6: 88,462,752 (GRCm39) A292V probably damaging Het
Ryr1 C T 7: 28,794,915 (GRCm39) G1151S probably damaging Het
Serpinb9b T C 13: 33,213,548 (GRCm39) I35T possibly damaging Het
Slc1a1 T A 19: 28,882,122 (GRCm39) M328K probably benign Het
Slc7a13 A T 4: 19,824,031 (GRCm39) T267S possibly damaging Het
Speer3 G T 5: 13,846,335 (GRCm39) M218I probably benign Het
Sptan1 A G 2: 29,876,432 (GRCm39) I271V probably damaging Het
Swap70 A G 7: 109,863,255 (GRCm39) T195A probably benign Het
Tgs1 T A 4: 3,585,964 (GRCm39) N280K probably benign Het
Tonsl A G 15: 76,522,709 (GRCm39) C181R probably damaging Het
Trdn A G 10: 33,134,098 (GRCm39) K333R possibly damaging Het
Trpc4 T A 3: 54,206,600 (GRCm39) M600K probably damaging Het
Ubr3 C T 2: 69,808,067 (GRCm39) Q1183* probably null Het
Ubxn4 T A 1: 128,200,588 (GRCm39) L360I possibly damaging Het
Ugt2b1 T A 5: 87,074,267 (GRCm39) T31S probably benign Het
Uspl1 T C 5: 149,152,009 (GRCm39) S1056P probably damaging Het
Vmn2r60 A T 7: 41,785,279 (GRCm39) K164* probably null Het
Vwce T A 19: 10,624,108 (GRCm39) L333* probably null Het
Wdr95 T A 5: 149,497,581 (GRCm39) L253Q probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp142 T C 1: 74,610,934 (GRCm39) T851A possibly damaging 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
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
R4194:Mical1 UTSW 10 41,357,624 (GRCm39) missense possibly damaging 0.88
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'- TTTCCGCCGCATAGGACTTGTCAG -3'
(R):5'- TGCATCGAAGGCTGCCAAGAAG -3'

Sequencing Primer
(F):5'- CGCATAGGACTTGTCAGAGACTG -3'
(R):5'- AAGAAGCCTCGGGCTACTC -3'
Posted On 2014-04-24