Incidental Mutation 'R1866:Mical1'
ID 208741
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 039889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R1866 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 41352310-41363028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41361466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 797 (P797Q)
Ref Sequence ENSEMBL: ENSMUSP00000097519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019965] [ENSMUST00000019967] [ENSMUST00000099934] [ENSMUST00000105507] [ENSMUST00000119962] [ENSMUST00000126436] [ENSMUST00000155411]
AlphaFold Q8VDP3
Predicted Effect probably benign
Transcript: ENSMUST00000019965
SMART Domains Protein: ENSMUSP00000019965
Gene: ENSMUSG00000019822

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 11 272 3.9e-24 PFAM
transmembrane domain 322 344 N/A INTRINSIC
transmembrane domain 353 375 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019967
AA Change: P870Q

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: P870Q

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 benign
Transcript: ENSMUST00000099934
AA Change: P797Q

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: P797Q

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 benign
Transcript: ENSMUST00000105507
SMART Domains Protein: ENSMUSP00000101146
Gene: ENSMUSG00000078451

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
Pfam:Pro_isomerase 147 310 1.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119962
AA Change: P870Q

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: P870Q

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: ENSMUST00000122997
Predicted Effect probably benign
Transcript: ENSMUST00000126436
AA Change: P870Q

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114969
Gene: ENSMUSG00000019823
AA Change: P870Q

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: ENSMUST00000141542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147367
Predicted Effect probably benign
Transcript: ENSMUST00000155411
SMART Domains Protein: ENSMUSP00000115461
Gene: ENSMUSG00000019822

DomainStartEndE-ValueType
SCOP:d2dnja_ 9 81 2e-4 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.6%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 A T 19: 23,870,195 (GRCm39) E9V probably benign Het
Armc8 T A 9: 99,418,333 (GRCm39) T32S probably benign Het
Atr T A 9: 95,752,658 (GRCm39) probably null Het
Blm A G 7: 80,143,862 (GRCm39) L859P probably benign Het
Cacna2d3 A T 14: 28,691,171 (GRCm39) F51L probably damaging Het
Cdcp2 A G 4: 106,964,197 (GRCm39) N349S probably damaging Het
Cfap57 G A 4: 118,457,124 (GRCm39) H442Y possibly damaging Het
Chrm3 A G 13: 9,928,517 (GRCm39) L173P probably damaging Het
Cpb1 C G 3: 20,317,920 (GRCm39) M201I probably benign Het
Dgcr8 A T 16: 18,076,178 (GRCm39) N2K probably damaging Het
Dnah3 A T 7: 119,528,079 (GRCm39) probably null Het
Dnah6 T A 6: 73,077,071 (GRCm39) Q2398L probably benign Het
Dpep2 A T 8: 106,716,080 (GRCm39) probably null Het
Eif2ak4 C A 2: 118,303,142 (GRCm39) T1504K probably damaging Het
Exoc6b A G 6: 84,828,896 (GRCm39) V496A probably damaging Het
Fam174a A C 1: 95,241,620 (GRCm39) S27R probably benign Het
Fat2 T A 11: 55,182,840 (GRCm39) Q1339L probably benign Het
Fkbpl T A 17: 34,864,797 (GRCm39) D188E possibly damaging Het
Focad A G 4: 88,325,402 (GRCm39) D89G possibly damaging Het
Fstl4 C A 11: 53,077,225 (GRCm39) Q661K probably benign Het
Gck T C 11: 5,853,253 (GRCm39) Y289C probably benign Het
Gm16181 T A 17: 35,442,913 (GRCm39) probably benign Het
Herc1 G A 9: 66,358,073 (GRCm39) G2385S probably damaging Het
Igfn1 T C 1: 135,902,606 (GRCm39) probably null Het
Il12b T C 11: 44,299,353 (GRCm39) W141R probably damaging Het
Itga6 T A 2: 71,664,414 (GRCm39) S517T probably benign Het
Kank1 A G 19: 25,388,813 (GRCm39) S801G probably benign Het
Klrh1 A G 6: 129,752,343 (GRCm39) probably null Het
Lctl A G 9: 64,039,003 (GRCm39) D205G probably damaging Het
Lhx3 A C 2: 26,093,986 (GRCm39) V79G probably damaging Het
Lrrc9 T C 12: 72,543,912 (GRCm39) I1127T probably damaging Het
Ltbp3 A T 19: 5,797,877 (GRCm39) E505D probably benign Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Map6 A G 7: 98,965,083 (GRCm39) S291G probably damaging Het
Mapk7 A G 11: 61,380,239 (GRCm39) F671L probably benign Het
Mau2 A G 8: 70,484,142 (GRCm39) W149R probably damaging Het
Mb21d2 C T 16: 28,647,267 (GRCm39) V236I possibly damaging Het
Mc5r C G 18: 68,471,741 (GRCm39) probably null Het
Mnx1 G A 5: 29,679,043 (GRCm39) R347C unknown Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nlrp2 G T 7: 5,330,715 (GRCm39) C560* probably null Het
Npat T A 9: 53,474,416 (GRCm39) L736H probably damaging Het
Nup155 T A 15: 8,145,010 (GRCm39) V147E probably damaging Het
Nxpe2 A G 9: 48,238,121 (GRCm39) F45L probably benign Het
Obscn T C 11: 58,951,741 (GRCm39) D4370G probably benign Het
Or2d3b A G 7: 106,514,273 (GRCm39) I289M probably damaging Het
Or4a79 T C 2: 89,551,550 (GRCm39) K302E probably benign Het
Or4c35 T C 2: 89,808,671 (GRCm39) L183S probably damaging Het
Or4d10 A G 19: 12,051,183 (GRCm39) V271A probably benign Het
Or52n4 A G 7: 104,294,004 (GRCm39) S190P probably benign Het
Or5g23 T A 2: 85,439,188 (GRCm39) H22L probably benign Het
Or8k3 A C 2: 86,059,072 (GRCm39) M81R probably damaging Het
Pcx T C 19: 4,671,249 (GRCm39) I1157T possibly damaging Het
Pias2 T A 18: 77,240,412 (GRCm39) S589R probably benign Het
Plcb1 T C 2: 135,186,093 (GRCm39) F687L probably benign Het
Plk5 G T 10: 80,196,403 (GRCm39) probably null Het
Pnpla2 T A 7: 141,035,329 (GRCm39) Y44N probably damaging Het
Ppp1r12a T A 10: 108,098,292 (GRCm39) D337E possibly damaging Het
Prl2c5 G T 13: 13,365,358 (GRCm39) probably null Het
Prom2 T C 2: 127,378,514 (GRCm39) D460G probably damaging Het
Pros1 A G 16: 62,748,498 (GRCm39) H657R possibly damaging Het
Prune2 A G 19: 17,100,856 (GRCm39) E2120G probably damaging Het
Rap2a T A 14: 120,716,347 (GRCm39) L70Q probably damaging Het
Rbl2 A T 8: 91,839,157 (GRCm39) E858D probably benign Het
Rbm48 T C 5: 3,645,997 (GRCm39) Y69C probably damaging Het
Rgs12 T A 5: 35,123,018 (GRCm39) I267N probably damaging Het
Rpusd2 G T 2: 118,865,728 (GRCm39) A142S probably benign Het
Rspo2 A T 15: 42,939,332 (GRCm39) W153R probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Serinc5 T A 13: 92,842,771 (GRCm39) M407K probably damaging Het
Slain2 T C 5: 73,114,665 (GRCm39) S299P probably damaging Het
Slc17a4 A G 13: 24,084,528 (GRCm39) Y419H possibly damaging Het
Slc1a6 T A 10: 78,627,183 (GRCm39) D173E probably damaging Het
Slc22a19 A T 19: 7,688,506 (GRCm39) I18N probably damaging Het
Slc37a3 A T 6: 39,336,902 (GRCm39) F91L probably damaging Het
Spag5 C A 11: 78,195,281 (GRCm39) T196K possibly damaging Het
Susd2 G T 10: 75,475,566 (GRCm39) A326D probably damaging Het
Syna G T 5: 134,588,769 (GRCm39) A60D probably damaging Het
Tchh A T 3: 93,355,067 (GRCm39) E1502D unknown Het
Tecta T C 9: 42,303,320 (GRCm39) H104R probably damaging Het
Tmed1 T C 9: 21,420,387 (GRCm39) D102G probably damaging Het
Trip12 T C 1: 84,722,781 (GRCm39) D128G probably damaging Het
Uroc1 A G 6: 90,338,506 (GRCm39) M656V probably benign Het
Usp47 T A 7: 111,701,077 (GRCm39) V1096D possibly damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r19 G T 6: 123,308,597 (GRCm39) probably null Het
Vmn2r86 A T 10: 130,282,255 (GRCm39) V787D probably damaging Het
Vmn2r87 A T 10: 130,308,441 (GRCm39) I599N possibly damaging Het
Vwf A G 6: 125,644,492 (GRCm39) D2449G possibly damaging Het
Zbtb7c T A 18: 76,269,977 (GRCm39) C22S probably benign Het
Zc3h7a A G 16: 10,965,168 (GRCm39) I655T possibly damaging Het
Zfp764l1 A G 7: 126,992,503 (GRCm39) W36R probably 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
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
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'- CCACAAGGTAGGTGCTCTTC -3'
(R):5'- CTTAGAGGCAAACTTGTGAGACTG -3'

Sequencing Primer
(F):5'- CTACAGATGTGCTCTTCTCGGAG -3'
(R):5'- CTTGTGAGACTGTGAGAAGACATTAG -3'
Posted On 2014-06-30