Incidental Mutation 'IGL02994:Mkln1'
ID 407065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mkln1
Ensembl Gene ENSMUSG00000025609
Gene Name muskelin 1, intracellular mediator containing kelch motifs
Synonyms A130067F06Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.739) question?
Stock # IGL02994
Quality Score
Status
Chromosome 6
Chromosomal Location 31375670-31493746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31467378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 31 (S31P)
Ref Sequence ENSEMBL: ENSMUSP00000123048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026699] [ENSMUST00000130108]
AlphaFold O89050
Predicted Effect probably damaging
Transcript: ENSMUST00000026699
AA Change: S559P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: S559P

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 20 150 5.8e-11 PFAM
LisH 172 204 4.68e-3 SMART
CTLH 206 258 5.29e-2 SMART
Pfam:Kelch_4 270 324 5.8e-7 PFAM
Pfam:Kelch_1 279 315 2.2e-8 PFAM
Pfam:Kelch_3 282 334 7.6e-13 PFAM
Pfam:Kelch_1 459 498 2.8e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130108
AA Change: S31P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: S31P

DomainStartEndE-ValueType
SCOP:d1k3ia3 1 93 8e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150949
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal high-frequency ripple oscillation associated with GABA receptor internalization, intracellular trafficking, and degradation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,186,602 (GRCm39) probably benign Het
Ahnak2 A G 12: 112,749,827 (GRCm39) V137A probably damaging Het
Alk G T 17: 72,256,815 (GRCm39) F681L probably benign Het
Ankrd35 T C 3: 96,590,307 (GRCm39) probably benign Het
Aqp3 A T 4: 41,093,614 (GRCm39) C267S probably benign Het
Arl13b T A 16: 62,632,366 (GRCm39) I76F probably damaging Het
Ccn2 T A 10: 24,472,763 (GRCm39) N224K probably damaging Het
Cdc42bpa G T 1: 179,827,002 (GRCm39) R85L probably damaging Het
Dock4 T G 12: 40,829,159 (GRCm39) I1015R probably damaging Het
Dst A G 1: 34,268,333 (GRCm39) probably benign Het
Egfr T C 11: 16,861,811 (GRCm39) Y1197H probably damaging Het
Endod1 A G 9: 14,268,183 (GRCm39) V434A possibly damaging Het
Exosc9 A G 3: 36,607,287 (GRCm39) probably benign Het
Fgg G T 3: 82,915,781 (GRCm39) R74L probably benign Het
Fmo2 A T 1: 162,708,189 (GRCm39) D315E probably damaging Het
H2-M3 G A 17: 37,581,629 (GRCm39) S97N probably benign Het
Ighv14-2 T A 12: 113,958,211 (GRCm39) T77S probably benign Het
Klhl9 A T 4: 88,639,434 (GRCm39) L269* probably null Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Macroh2a1 T C 13: 56,252,112 (GRCm39) probably benign Het
Nacad A G 11: 6,549,528 (GRCm39) L1221P possibly damaging Het
Nbr1 A T 11: 101,447,053 (GRCm39) N13I probably damaging Het
Ndfip1 T C 18: 38,585,469 (GRCm39) I161T probably damaging Het
Nsg1 A G 5: 38,312,946 (GRCm39) probably benign Het
Rsbn1l G T 5: 21,113,232 (GRCm39) T430K probably damaging Het
Serpina6 A G 12: 103,620,210 (GRCm39) S180P probably benign Het
Slc4a5 T C 6: 83,249,106 (GRCm39) L570P probably damaging Het
Tank A G 2: 61,480,636 (GRCm39) probably benign Het
Tpd52 A G 3: 9,012,590 (GRCm39) F76L probably benign Het
Ubox5 A C 2: 130,442,237 (GRCm39) L150R probably benign Het
Zfp710 T C 7: 79,731,581 (GRCm39) S253P probably benign Het
Other mutations in Mkln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Mkln1 APN 6 31,409,925 (GRCm39) missense probably damaging 0.99
IGL01569:Mkln1 APN 6 31,405,063 (GRCm39) splice site probably benign
IGL01882:Mkln1 APN 6 31,428,469 (GRCm39) missense probably benign
IGL02009:Mkln1 APN 6 31,426,455 (GRCm39) missense probably benign 0.02
IGL02160:Mkln1 APN 6 31,469,726 (GRCm39) splice site probably benign
IGL03105:Mkln1 APN 6 31,435,994 (GRCm39) nonsense probably null
PIT4377001:Mkln1 UTSW 6 31,451,289 (GRCm39) missense probably damaging 1.00
R0376:Mkln1 UTSW 6 31,454,953 (GRCm39) missense probably benign 0.00
R0446:Mkln1 UTSW 6 31,426,439 (GRCm39) missense probably damaging 0.98
R0518:Mkln1 UTSW 6 31,445,067 (GRCm39) missense probably benign 0.00
R0600:Mkln1 UTSW 6 31,409,862 (GRCm39) splice site probably benign
R1066:Mkln1 UTSW 6 31,395,922 (GRCm39) missense possibly damaging 0.85
R1248:Mkln1 UTSW 6 31,466,303 (GRCm39) missense probably damaging 1.00
R1717:Mkln1 UTSW 6 31,484,579 (GRCm39) missense probably benign
R1921:Mkln1 UTSW 6 31,405,113 (GRCm39) missense probably benign 0.22
R1978:Mkln1 UTSW 6 31,467,465 (GRCm39) nonsense probably null
R3836:Mkln1 UTSW 6 31,445,271 (GRCm39) missense probably damaging 1.00
R3895:Mkln1 UTSW 6 31,484,602 (GRCm39) missense probably damaging 1.00
R4456:Mkln1 UTSW 6 31,403,707 (GRCm39) missense probably damaging 1.00
R4513:Mkln1 UTSW 6 31,410,093 (GRCm39) intron probably benign
R4737:Mkln1 UTSW 6 31,403,734 (GRCm39) missense probably damaging 1.00
R4819:Mkln1 UTSW 6 31,451,421 (GRCm39) missense probably benign 0.00
R4960:Mkln1 UTSW 6 31,435,941 (GRCm39) missense probably damaging 1.00
R5291:Mkln1 UTSW 6 31,467,416 (GRCm39) missense possibly damaging 0.78
R5364:Mkln1 UTSW 6 31,473,647 (GRCm39) missense probably damaging 1.00
R5739:Mkln1 UTSW 6 31,473,637 (GRCm39) missense probably benign 0.00
R5797:Mkln1 UTSW 6 31,410,004 (GRCm39) missense probably benign 0.21
R5890:Mkln1 UTSW 6 31,467,482 (GRCm39) missense probably benign 0.02
R5940:Mkln1 UTSW 6 31,466,307 (GRCm39) missense probably damaging 1.00
R6132:Mkln1 UTSW 6 31,408,155 (GRCm39) missense probably damaging 0.98
R6521:Mkln1 UTSW 6 31,467,479 (GRCm39) missense probably damaging 1.00
R7362:Mkln1 UTSW 6 31,445,103 (GRCm39) missense probably benign 0.31
R7711:Mkln1 UTSW 6 31,469,584 (GRCm39) missense probably damaging 0.99
R8094:Mkln1 UTSW 6 31,469,588 (GRCm39) nonsense probably null
R8340:Mkln1 UTSW 6 31,409,878 (GRCm39) missense possibly damaging 0.53
R8379:Mkln1 UTSW 6 31,435,900 (GRCm39) nonsense probably null
R8972:Mkln1 UTSW 6 31,473,681 (GRCm39) missense probably damaging 1.00
R9403:Mkln1 UTSW 6 31,409,905 (GRCm39) missense probably damaging 1.00
Z1176:Mkln1 UTSW 6 31,428,489 (GRCm39) missense probably damaging 1.00
Z1176:Mkln1 UTSW 6 31,375,856 (GRCm39) missense possibly damaging 0.74
Posted On 2016-08-02