Incidental Mutation 'R9403:Mkln1'
ID 711336
Institutional Source Beutler Lab
Gene Symbol Mkln1
Ensembl Gene ENSMUSG00000025609
Gene Name muskelin 1, intracellular mediator containing kelch motifs
Synonyms A130067F06Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.739) question?
Stock # R9403 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 31375670-31493746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31409905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 181 (L181P)
Ref Sequence ENSEMBL: ENSMUSP00000026699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026699]
AlphaFold O89050
PDB Structure The crystal structure of discoidin domain from muskelin [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000026699
AA Change: L181P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: L181P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Apoa5 G C 9: 46,181,944 (GRCm39) R340P probably damaging Het
Cyp3a41a T A 5: 145,639,008 (GRCm39) Y320F probably damaging Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dpys C G 15: 39,691,467 (GRCm39) W285S probably damaging Het
Fam187b T C 7: 30,676,515 (GRCm39) V8A Het
Fbn2 T C 18: 58,199,179 (GRCm39) E1363G probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gm5591 T A 7: 38,219,572 (GRCm39) M434L probably benign Het
Gm5591 T C 7: 38,221,680 (GRCm39) T130A probably damaging Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Kcnma1 T A 14: 23,593,145 (GRCm39) I280L probably benign Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mms22l T C 4: 24,580,204 (GRCm39) probably null Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Mylk C A 16: 34,696,012 (GRCm39) S249* probably null Het
Naa35 G A 13: 59,748,817 (GRCm39) A150T possibly damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nup205 G A 6: 35,176,909 (GRCm39) R635H probably benign Het
Nup50l T G 6: 96,142,280 (GRCm39) T255P probably benign Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Padi3 T C 4: 140,537,843 (GRCm39) I26V probably benign Het
Polq T C 16: 36,882,215 (GRCm39) S1460P probably benign Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rergl T A 6: 139,471,852 (GRCm39) Y99F possibly damaging Het
Rptn C A 3: 93,302,349 (GRCm39) H22N probably benign Het
Semp2l2b C T 10: 21,943,840 (GRCm39) D47N possibly damaging Het
Sh2b1 ACCAGCTCAGCCACGGGG ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG 7: 126,066,747 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GGACCAGCTCAG GGACCAGCTCAGTCACGGTGACCAGCTCAG 7: 126,066,745 (GRCm39) probably null Het
Slc2a3 A C 6: 122,713,569 (GRCm39) I214M probably damaging Het
Slc5a7 A T 17: 54,583,669 (GRCm39) N540K probably benign Het
Slco6c1 A T 1: 96,990,248 (GRCm39) S664R possibly damaging Het
Tgm4 C A 9: 122,881,837 (GRCm39) S344R probably damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Trpm6 C A 19: 18,810,016 (GRCm39) D1137E possibly damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Zfp383 T C 7: 29,614,684 (GRCm39) F313S possibly damaging 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
IGL02994:Mkln1 APN 6 31,467,378 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTTCAGTTTTACTACTTGACAGGTG -3'
(R):5'- GGCACATAGGCAGCATATATTC -3'

Sequencing Primer
(F):5'- CAGATTTCTGAGTTCAAGGCCAGTC -3'
(R):5'- AGGCAGCATATATTCTTTTAGGAAG -3'
Posted On 2022-05-16