Incidental Mutation 'R6132:Mkln1'
ID 487174
Institutional Source Beutler Lab
Gene Symbol Mkln1
Ensembl Gene ENSMUSG00000025609
Gene Name muskelin 1, intracellular mediator containing kelch motifs
Synonyms A130067F06Rik
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.739) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 31375670-31493746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31408155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 161 (V161M)
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: V161M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: V161M

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
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'- GTGTGTAATAATTTTGATGAATGCGT -3'
(R):5'- GCAGCTGACAAACCACAATGTT -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- GCTGACAAACCACAATGTTTAAATG -3'
Posted On 2017-10-10