Incidental Mutation 'R6074:Mical1'
ID 482647
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 044235-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R6074 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 41352310-41363028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41362061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 929 (M929T)
Ref Sequence ENSEMBL: ENSMUSP00000113783 (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: M929T

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000019967
Gene: ENSMUSG00000019823
AA Change: M929T

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: M856T

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097519
Gene: ENSMUSG00000019823
AA Change: M856T

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: M929T

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113783
Gene: ENSMUSG00000019823
AA Change: M929T

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 noncoding transcript
Transcript: ENSMUST00000130838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141542
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: 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215608
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 97% (61/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo1 T A 3: 108,099,009 (GRCm39) C189* probably null Het
Auts2 G T 5: 131,505,828 (GRCm39) probably benign Het
Cadps2 C A 6: 23,626,670 (GRCm39) W177L probably damaging Het
Camk2b G T 11: 5,939,635 (GRCm39) P223Q probably damaging Het
Ccdc74a C A 16: 17,464,591 (GRCm39) S9* probably null Het
Ccnt1 A C 15: 98,441,205 (GRCm39) Y688D probably damaging Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ceacam3 C T 7: 16,885,484 (GRCm39) T29I probably benign Het
Cep170b T C 12: 112,710,589 (GRCm39) S1473P probably damaging Het
Col19a1 T A 1: 24,565,564 (GRCm39) T256S unknown Het
Eif2d T A 1: 131,094,079 (GRCm39) D423E probably damaging Het
Fam13a A G 6: 58,966,723 (GRCm39) probably null Het
Gaa G A 11: 119,175,012 (GRCm39) R871H probably benign Het
Galnt12 T A 4: 47,112,405 (GRCm39) V37D probably damaging Het
Glp2r A G 11: 67,637,640 (GRCm39) S13P unknown Het
Gnptab C T 10: 88,268,940 (GRCm39) L548F probably damaging Het
Heg1 C T 16: 33,547,573 (GRCm39) P787S possibly damaging Het
Hivep2 T A 10: 14,007,485 (GRCm39) M1361K probably benign Het
Hivep3 T C 4: 119,954,891 (GRCm39) I1069T possibly damaging Het
Hspg2 A G 4: 137,268,046 (GRCm39) D2121G probably benign Het
Htatip2 A G 7: 49,422,322 (GRCm39) probably null Het
Ighv1-75 T C 12: 115,798,007 (GRCm39) S4G probably benign Het
Ip6k1 A G 9: 107,901,308 (GRCm39) probably benign Het
Kcna6 A G 6: 126,716,242 (GRCm39) S216P probably benign Het
Kif21a T A 15: 90,865,095 (GRCm39) T526S probably benign Het
Kng2 C T 16: 22,819,346 (GRCm39) G230D probably benign Het
Lgi2 A T 5: 52,703,984 (GRCm39) F216I probably benign Het
Lratd1 G A 12: 14,200,512 (GRCm39) H72Y probably benign Het
Lss T A 10: 76,379,693 (GRCm39) N383K probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nat8f4 A G 6: 85,878,169 (GRCm39) V118A probably damaging Het
Or10j5 T A 1: 172,784,945 (GRCm39) N194K probably benign Het
Or4p23 A C 2: 88,576,566 (GRCm39) L222R probably damaging Het
Or6b2 G A 1: 92,407,497 (GRCm39) T282M probably benign Het
Osbpl11 T A 16: 33,030,335 (GRCm39) S188T probably benign Het
Pea15a C T 1: 172,026,752 (GRCm39) R85H possibly damaging Het
Ppp1r13b A G 12: 111,798,836 (GRCm39) I919T probably damaging Het
Rasgrf1 A G 9: 89,835,968 (GRCm39) D232G probably benign Het
Rp1 A G 1: 4,415,602 (GRCm39) S1837P probably benign Het
Samd5 T A 10: 9,550,334 (GRCm39) Y125F possibly damaging Het
Skint5 T C 4: 113,662,397 (GRCm39) T597A unknown Het
Slc25a12 A G 2: 71,106,798 (GRCm39) F605L probably benign Het
Slc39a12 C T 2: 14,412,290 (GRCm39) Q321* probably null Het
Slc6a19 T C 13: 73,837,882 (GRCm39) S206G probably benign Het
Tacc2 T A 7: 130,227,165 (GRCm39) H1283Q possibly damaging Het
Thumpd3 A G 6: 113,036,971 (GRCm39) E290G possibly damaging Het
Timd2 C T 11: 46,577,999 (GRCm39) G44D possibly damaging Het
Tmem74 A G 15: 43,730,134 (GRCm39) V303A possibly damaging Het
Tpo A G 12: 30,128,186 (GRCm39) V785A probably benign Het
Tpra1 T A 6: 88,888,919 (GRCm39) I367N possibly damaging Het
Txnrd2 T C 16: 18,256,297 (GRCm39) I95T probably damaging Het
Usp32 A G 11: 84,885,399 (GRCm39) V1216A probably benign Het
Usp54 C A 14: 20,602,167 (GRCm39) M1394I probably benign Het
Vmn2r13 A G 5: 109,322,167 (GRCm39) F177L probably benign Het
Vmn2r82 T A 10: 79,232,377 (GRCm39) V792E probably damaging Het
Wdfy4 C T 14: 32,805,596 (GRCm39) probably null Het
Wnk2 A T 13: 49,204,875 (GRCm39) C458S probably damaging Het
Xkr6 T G 14: 63,844,519 (GRCm39) F181V possibly damaging Het
Zfp212 T A 6: 47,903,986 (GRCm39) C149* probably null Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp661 A G 2: 127,419,793 (GRCm39) S116P probably benign Het
Zfp770 A G 2: 114,026,870 (GRCm39) Y400H 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
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
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
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'- TGACTAAGTACCCAACGTGGC -3'
(R):5'- AGAGACAGTGTGTGCTAGCATG -3'

Posted On 2017-07-14