Incidental Mutation 'R1921:Mkln1'
ID 213048
Institutional Source Beutler Lab
Gene Symbol Mkln1
Ensembl Gene ENSMUSG00000025609
Gene Name muskelin 1, intracellular mediator containing kelch motifs
Synonyms A130067F06Rik
MMRRC Submission 039939-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.739) question?
Stock # R1921 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 31375670-31493746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31405113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 118 (K118R)
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 benign
Transcript: ENSMUST00000026699
AA Change: K118R

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: K118R

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 noncoding transcript
Transcript: ENSMUST00000134315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154954
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.3%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Abhd2 T C 7: 78,998,104 (GRCm39) I212T possibly damaging Het
Adam7 A C 14: 68,750,074 (GRCm39) S449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aox3 T C 1: 58,219,810 (GRCm39) Y1137H probably damaging Het
Atp11b T C 3: 35,888,474 (GRCm39) Y715H probably damaging Het
Atrn A G 2: 130,836,971 (GRCm39) Y1145C probably damaging Het
Btbd7 A G 12: 102,760,055 (GRCm39) I631T probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cfap45 A G 1: 172,372,679 (GRCm39) E458G probably damaging Het
Cptp C T 4: 155,950,995 (GRCm39) R157H probably damaging Het
Dcbld1 A C 10: 52,195,747 (GRCm39) E318D possibly damaging Het
Ddr2 G T 1: 169,831,814 (GRCm39) P197Q probably damaging Het
Dlg5 T C 14: 24,226,639 (GRCm39) Y421C probably damaging Het
Dlgap2 A G 8: 14,893,624 (GRCm39) K980E probably benign Het
Drc7 T C 8: 95,782,644 (GRCm39) V3A unknown Het
Dst T C 1: 34,200,110 (GRCm39) V96A probably damaging Het
Ect2l T C 10: 18,018,752 (GRCm39) D548G possibly damaging Het
Efcab10 A T 12: 33,448,434 (GRCm39) Y89F probably benign Het
Eif1ad CGAGGAGGAGGAGGAGGAGG CGAGGAGGAGGAGGAGG 19: 5,420,086 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,732 (GRCm39) T147A probably damaging Het
Fbxl5 T A 5: 43,922,832 (GRCm39) E189D probably benign Het
Fer1l6 T A 15: 58,497,080 (GRCm39) S1217T probably damaging Het
Frem2 A T 3: 53,560,916 (GRCm39) V1197D possibly damaging Het
Fsip2 T A 2: 82,811,127 (GRCm39) L2482* probably null Het
Fsip2 A T 2: 82,817,164 (GRCm39) D4299V probably benign Het
Gipc3 T A 10: 81,174,049 (GRCm39) I242F probably damaging Het
Hoxb1 T A 11: 96,256,938 (GRCm39) Y96N probably damaging Het
Ibsp A G 5: 104,458,078 (GRCm39) E205G probably damaging Het
Ibtk A G 9: 85,585,135 (GRCm39) S1170P probably benign Het
Igfn1 A G 1: 135,893,801 (GRCm39) probably null Het
Iqsec1 A G 6: 90,639,877 (GRCm39) S954P probably benign Het
Kalrn A T 16: 34,212,463 (GRCm39) D28E probably benign Het
Lrmda T C 14: 22,627,938 (GRCm39) F52L probably damaging Het
Lrp2 T C 2: 69,353,631 (GRCm39) D543G probably damaging Het
Lrrtm3 T C 10: 63,924,157 (GRCm39) T337A probably benign Het
Marf1 C T 16: 13,946,465 (GRCm39) D1219N possibly damaging Het
Nedd4l T C 18: 65,300,646 (GRCm39) probably null Het
Neu2 A G 1: 87,525,023 (GRCm39) E336G probably benign Het
Nfasc A G 1: 132,538,543 (GRCm39) F448S probably damaging Het
Nlrx1 C A 9: 44,165,431 (GRCm39) E822* probably null Het
Nr5a1 T C 2: 38,584,108 (GRCm39) Y437C probably damaging Het
Or4c119 A G 2: 88,986,925 (GRCm39) V198A probably benign Het
Or7a37 T A 10: 78,805,975 (GRCm39) L164* probably null Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Phtf1 C T 3: 103,876,438 (GRCm39) Q13* probably null Het
Pnldc1 A G 17: 13,107,815 (GRCm39) L525P possibly damaging Het
Ppl T A 16: 4,923,988 (GRCm39) D162V possibly damaging Het
Prkdc T A 16: 15,532,079 (GRCm39) S1448T possibly damaging Het
Ptgdr A G 14: 45,090,738 (GRCm39) I340T probably benign Het
Recql T C 6: 142,311,315 (GRCm39) I458M probably benign Het
Rrbp1 A T 2: 143,830,211 (GRCm39) V652E probably benign Het
Rtp1 T A 16: 23,250,160 (GRCm39) I175N probably damaging Het
Ryr1 A G 7: 28,754,369 (GRCm39) M3523T probably damaging Het
S100a16 T C 3: 90,449,703 (GRCm39) L62P probably damaging Het
Samd11 T C 4: 156,333,166 (GRCm39) E364G probably damaging Het
Satb1 C A 17: 52,049,143 (GRCm39) G603* probably null Het
Shroom3 T A 5: 93,110,224 (GRCm39) probably null Het
Slc25a15 A G 8: 22,885,777 (GRCm39) S3P probably benign Het
Socs2 A T 10: 95,248,900 (GRCm39) L71* probably null Het
Sptbn1 T C 11: 30,054,469 (GRCm39) E2208G probably damaging Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Susd1 T A 4: 59,412,191 (GRCm39) T121S probably benign Het
Svs3b A T 2: 164,097,848 (GRCm39) S158T probably benign Het
Synpo C T 18: 60,736,661 (GRCm39) M428I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar4 A G 10: 23,837,239 (GRCm39) D283G probably damaging Het
Tango6 T A 8: 107,415,426 (GRCm39) D82E probably benign Het
Tcof1 T C 18: 60,971,927 (GRCm39) T127A possibly damaging Het
Tle3 G A 9: 61,318,622 (GRCm39) probably null Het
Tmem45a A G 16: 56,642,665 (GRCm39) F169L probably benign Het
Trp53rkb T A 2: 166,637,743 (GRCm39) V233E probably damaging Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Tubgcp3 A T 8: 12,671,932 (GRCm39) L770* probably null Het
Tut1 G A 19: 8,943,466 (GRCm39) G851D probably benign Het
Ubr1 G A 2: 120,761,449 (GRCm39) T576I probably benign Het
Vmn1r125 T A 7: 21,006,530 (GRCm39) Y143N probably damaging Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Vmn2r95 T A 17: 18,644,575 (GRCm39) N70K probably benign Het
Vps35l A G 7: 118,432,971 (GRCm39) N568S probably damaging Het
Wdr59 A T 8: 112,213,582 (GRCm39) L311* probably null Het
Wnt2 A G 6: 18,030,252 (GRCm39) L12P unknown Het
Xrn1 T C 9: 95,881,550 (GRCm39) I700T probably benign Het
Ypel1 A G 16: 16,900,443 (GRCm39) H98R probably benign Het
Zfp219 T C 14: 52,245,691 (GRCm39) T434A probably benign Het
Zik1 A C 7: 10,223,943 (GRCm39) C385G probably 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
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
Predicted Primers PCR Primer
(F):5'- TCTTGAATATGCAGTGTGAGCAC -3'
(R):5'- ACCCTGTAAGAATCCTTCTAAGTGAG -3'

Sequencing Primer
(F):5'- GCACTGGCATAAGCTTAGCATTTG -3'
(R):5'- CAACAGGAATCTCTTCAGATGCTGG -3'
Posted On 2014-07-14