Incidental Mutation 'R0518:Mkln1'
ID 48289
Institutional Source Beutler Lab
Gene Symbol Mkln1
Ensembl Gene ENSMUSG00000025609
Gene Name muskelin 1, intracellular mediator containing kelch motifs
Synonyms A130067F06Rik
MMRRC Submission 038711-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.739) question?
Stock # R0518 (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 31445067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 321 (N321S)
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: N321S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: N321S

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: ENSMUST00000141045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150949
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,181,112 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acsm5 T C 7: 119,135,023 (GRCm39) V327A possibly damaging Het
Agt C A 8: 125,283,839 (GRCm39) E427* probably null Het
Akr1c14 T C 13: 4,131,016 (GRCm39) L236S probably damaging Het
Ammecr1l C T 18: 31,904,954 (GRCm39) S65L probably benign Het
Ankrd33b T C 15: 31,367,432 (GRCm39) D36G probably damaging Het
Ano8 A T 8: 71,931,902 (GRCm39) C766S probably benign Het
Arhgef16 G T 4: 154,375,491 (GRCm39) P168T probably damaging Het
Asic1 C T 15: 99,596,700 (GRCm39) R499C probably damaging Het
Atpsckmt T G 15: 31,606,103 (GRCm39) S20R probably benign Het
Bank1 C T 3: 135,919,703 (GRCm39) C364Y probably damaging Het
Bmerb1 T A 16: 13,804,676 (GRCm39) S8T possibly damaging Het
Cacna1s C A 1: 136,004,597 (GRCm39) D132E probably benign Het
Capn5 C T 7: 97,782,089 (GRCm39) R217Q probably damaging Het
Clasrp A G 7: 19,322,528 (GRCm39) I284T probably benign Het
Coa3 T A 11: 101,169,716 (GRCm39) K13M probably damaging Het
Col13a1 A T 10: 61,698,525 (GRCm39) M512K unknown Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crhbp C A 13: 95,580,403 (GRCm39) probably null Het
Cryba2 T C 1: 74,929,284 (GRCm39) Y153C possibly damaging Het
Cryzl2 T C 1: 157,292,000 (GRCm39) V93A probably damaging Het
Ctsl G A 13: 64,513,032 (GRCm39) L297F possibly damaging Het
Cyp2r1 T G 7: 114,152,135 (GRCm39) H274P probably benign Het
Ddx4 A T 13: 112,761,313 (GRCm39) probably null Het
Dnai4 A C 4: 102,921,727 (GRCm39) Y464* probably null Het
Dnd1 A G 18: 36,897,096 (GRCm39) V350A possibly damaging Het
Dsg1b A T 18: 20,521,221 (GRCm39) Q26L probably benign Het
Fam20b C A 1: 156,515,026 (GRCm39) V280F possibly damaging Het
Foxb2 G T 19: 16,849,820 (GRCm39) C395* probably null Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Gm9930 A T 10: 9,410,547 (GRCm39) noncoding transcript Het
Hdac7 G A 15: 97,704,380 (GRCm39) Q497* probably null Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Hsd3b7 A G 7: 127,402,251 (GRCm39) T330A probably benign Het
Il20ra A T 10: 19,635,388 (GRCm39) Q543L probably damaging Het
Itk T A 11: 46,251,115 (GRCm39) D163V probably damaging Het
Kcnu1 T G 8: 26,400,916 (GRCm39) L688R probably damaging Het
Kng1 G A 16: 22,879,232 (GRCm39) A45T possibly damaging Het
Kti12 T A 4: 108,705,776 (GRCm39) V230E possibly damaging Het
Lhfpl7 T A 5: 113,383,873 (GRCm39) L97* probably null Het
Mgat5 T A 1: 127,312,584 (GRCm39) I241N probably damaging Het
Mllt10 T G 2: 18,076,017 (GRCm39) probably null Het
Ms4a1 C A 19: 11,236,043 (GRCm39) probably null Het
Ngly1 C T 14: 16,290,774 (GRCm38) Q419* probably null Het
Nipsnap3b T A 4: 53,021,343 (GRCm39) F243I probably damaging Het
Ogfod1 T A 8: 94,781,876 (GRCm39) probably null Het
Or10a2 T A 7: 106,673,965 (GRCm39) L310Q possibly damaging Het
Or2y11 C T 11: 49,443,291 (GRCm39) T239M probably damaging Het
Or51v8 T A 7: 103,319,696 (GRCm39) I181F possibly damaging Het
Or8c20 A C 9: 38,260,499 (GRCm39) N40T probably damaging Het
P2ry14 T A 3: 59,022,625 (GRCm39) E287D probably damaging Het
Pank4 A T 4: 155,061,082 (GRCm39) R510S possibly damaging Het
Pcsk6 T A 7: 65,629,915 (GRCm39) V347E possibly damaging Het
Peg3 T C 7: 6,714,427 (GRCm39) E265G probably damaging Het
Pik3c2b C A 1: 133,033,730 (GRCm39) P1578H probably damaging Het
Pkd1 A G 17: 24,814,193 (GRCm39) S4188G probably benign Het
Ppp1r26 A G 2: 28,342,314 (GRCm39) D648G probably damaging Het
Ptprs A G 17: 56,726,621 (GRCm39) probably null Het
Rab24 A T 13: 55,468,738 (GRCm39) probably null Het
Rap1gap2 A T 11: 74,332,592 (GRCm39) M71K probably damaging Het
Rergl T G 6: 139,473,524 (GRCm39) K42T probably damaging Het
Rigi C T 4: 40,216,354 (GRCm39) probably null Het
Septin5 T C 16: 18,443,647 (GRCm39) T92A probably benign Het
Ski A G 4: 155,243,743 (GRCm39) probably null Het
Slc17a8 A G 10: 89,412,192 (GRCm39) S414P probably benign Het
Slc25a36 A T 9: 96,979,228 (GRCm39) I71N probably damaging Het
Syne2 A C 12: 76,155,636 (GRCm39) probably null Het
Tdrd5 C A 1: 156,090,511 (GRCm39) W845L probably damaging Het
Tfb2m T C 1: 179,365,389 (GRCm39) I192V possibly damaging Het
Tll1 T G 8: 64,551,505 (GRCm39) D292A probably damaging Het
Trank1 A C 9: 111,162,876 (GRCm39) D45A probably damaging Het
Trim17 T A 11: 58,859,320 (GRCm39) V178E probably damaging Het
Trim9 A T 12: 70,393,359 (GRCm39) L195Q probably damaging Het
Ttc27 A T 17: 75,163,544 (GRCm39) R717S possibly damaging Het
Upk2 G T 9: 44,365,418 (GRCm39) P50Q probably damaging Het
Usp9y A T Y: 1,307,880 (GRCm39) C2319S probably benign Het
Vmn1r4 G T 6: 56,933,883 (GRCm39) C129F probably benign Het
Vmn2r100 A T 17: 19,742,178 (GRCm39) D184V probably damaging Het
Xpnpep3 T G 15: 81,311,693 (GRCm39) I133S possibly damaging Het
Zfp628 A T 7: 4,922,939 (GRCm39) Q387L probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCTGTTTCCTGGCAGATTTAAAACAC -3'
(R):5'- ACACCAACTTTGGTCCACCGTC -3'

Sequencing Primer
(F):5'- CTGGCAGATTTAAAACACTTGTAGGG -3'
(R):5'- CGGCAGCAGTATCTTCACTTAG -3'
Posted On 2013-06-12