Incidental Mutation 'IGL00508:Micall1'
ID12006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Micall1
Ensembl Gene ENSMUSG00000033039
Gene Namemicrotubule associated monooxygenase, calponin and LIM domain containing -like 1
SynonymsD15N2e, Mus EST 820961, D15Mit260
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL00508
Quality Score
Status
Chromosome15
Chromosomal Location79108898-79136900 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79130568 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 715 (K715E)
Ref Sequence ENSEMBL: ENSMUSP00000042053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040320] [ENSMUST00000169604] [ENSMUST00000187550] [ENSMUST00000188562] [ENSMUST00000189761] [ENSMUST00000190509] [ENSMUST00000190730] [ENSMUST00000190959] [ENSMUST00000229031]
Predicted Effect probably damaging
Transcript: ENSMUST00000040320
AA Change: K715E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039
AA Change: K715E

DomainStartEndE-ValueType
CH 4 103 5.64e-19 SMART
low complexity region 113 135 N/A INTRINSIC
LIM 164 219 1.15e-5 SMART
low complexity region 241 250 N/A INTRINSIC
low complexity region 375 394 N/A INTRINSIC
low complexity region 414 467 N/A INTRINSIC
low complexity region 477 497 N/A INTRINSIC
low complexity region 515 530 N/A INTRINSIC
low complexity region 571 586 N/A INTRINSIC
DUF3585 685 825 5.07e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169604
SMART Domains Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 4 213 3.2e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186559
Predicted Effect probably benign
Transcript: ENSMUST00000187550
SMART Domains Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188562
Predicted Effect probably benign
Transcript: ENSMUST00000189761
SMART Domains Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 39 4.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190509
SMART Domains Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 33 195 4.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190730
SMART Domains Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190959
SMART Domains Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 216 1.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230202
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,506,187 D2188E probably damaging Het
Atrx A G X: 105,823,799 S2026P probably damaging Het
Cacna1b A C 2: 24,657,289 probably null Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cfap57 C T 4: 118,581,170 probably null Het
Ckap5 T G 2: 91,606,256 V1567G probably damaging Het
Cyp2c38 A T 19: 39,460,725 Y61* probably null Het
D130052B06Rik A G 11: 33,599,402 E7G unknown Het
Dhx38 A G 8: 109,556,934 L527P possibly damaging Het
Dnaaf5 A G 5: 139,177,946 N653D probably benign Het
Dnah8 T G 17: 30,855,930 M4541R probably damaging Het
Dpyd A T 3: 119,064,987 T617S probably benign Het
Fpr2 A T 17: 17,892,772 N10I probably damaging Het
Frmd4a A T 2: 4,594,734 K524* probably null Het
Gpr45 C T 1: 43,032,292 P32S possibly damaging Het
H2-Eb2 A T 17: 34,334,367 I176F probably damaging Het
Hcrtr1 T A 4: 130,137,269 N74I probably damaging Het
Ifi47 C T 11: 49,095,414 Q3* probably null Het
Krt8 T A 15: 101,998,025 M350L probably benign Het
Lilra6 A G 7: 3,911,554 S533P probably benign Het
Map1b A T 13: 99,429,233 S2327T unknown Het
Mcoln3 T A 3: 146,133,928 I345N probably damaging Het
Mettl3 C A 14: 52,294,979 probably benign Het
Mgat4a G A 1: 37,449,123 R472* probably null Het
Pak1 G T 7: 97,854,568 G37C probably benign Het
Pomt2 T G 12: 87,119,627 H426P probably damaging Het
Pou2f3 G A 9: 43,139,963 P155S probably benign Het
Psg25 A G 7: 18,529,731 Y56H probably benign Het
Rab9 G T X: 166,457,864 Y150* probably null Het
Rhox2g T A X: 37,642,810 N152I probably damaging Het
Sema6d T C 2: 124,656,924 probably benign Het
Simc1 C A 13: 54,525,176 Q446K probably benign Het
Svs2 G T 2: 164,237,042 T315K possibly damaging Het
Syt9 C T 7: 107,425,367 R156* probably null Het
Tmem260 A T 14: 48,509,121 Y618F probably damaging Het
Wdr44 A G X: 23,800,544 I719V possibly damaging Het
Zfp518a T G 19: 40,913,470 I614M probably damaging Het
Other mutations in Micall1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Micall1 APN 15 79115021 splice site probably benign
IGL00496:Micall1 APN 15 79115021 splice site probably benign
IGL01626:Micall1 APN 15 79130512 missense possibly damaging 0.46
IGL01868:Micall1 APN 15 79115060 missense probably benign 0.41
IGL03062:Micall1 APN 15 79114681 missense probably damaging 1.00
R0086:Micall1 UTSW 15 79125489 utr 3 prime probably benign
R0099:Micall1 UTSW 15 79131901 splice site probably benign
R0282:Micall1 UTSW 15 79131901 splice site probably benign
R0727:Micall1 UTSW 15 79120778 missense probably benign 0.00
R1859:Micall1 UTSW 15 79122945 intron probably benign
R2142:Micall1 UTSW 15 79130795 missense probably damaging 0.98
R2228:Micall1 UTSW 15 79129836 missense probably damaging 1.00
R3508:Micall1 UTSW 15 79122765 missense probably damaging 1.00
R4858:Micall1 UTSW 15 79122946 intron probably benign
R4888:Micall1 UTSW 15 79131848 nonsense probably null
R5059:Micall1 UTSW 15 79122834 intron probably benign
R5097:Micall1 UTSW 15 79129878 missense probably benign 0.17
R5451:Micall1 UTSW 15 79126904 splice site probably null
R5710:Micall1 UTSW 15 79127090 missense probably damaging 1.00
R5727:Micall1 UTSW 15 79130478 missense possibly damaging 0.64
R7135:Micall1 UTSW 15 79109424 missense unknown
R7186:Micall1 UTSW 15 79125375 missense unknown
R7297:Micall1 UTSW 15 79120897 missense unknown
R7472:Micall1 UTSW 15 79122560 missense unknown
Posted On2012-12-06