Incidental Mutation 'IGL01140:Lrmda'
ID 52728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrmda
Ensembl Gene ENSMUSG00000063458
Gene Name leucine rich melanocyte differentiation associated
Synonyms Oca7, 1700112E06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01140
Quality Score
Status
Chromosome 14
Chromosomal Location 22069780-23106153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22646585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 75 (A75V)
Ref Sequence ENSEMBL: ENSMUSP00000124221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075639] [ENSMUST00000159777] [ENSMUST00000161249] [ENSMUST00000162540] [ENSMUST00000226003]
AlphaFold Q9D9B4
Predicted Effect probably benign
Transcript: ENSMUST00000075639
AA Change: A164V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000075065
Gene: ENSMUSG00000063458
AA Change: A164V

DomainStartEndE-ValueType
low complexity region 55 82 N/A INTRINSIC
LRRcap 129 147 6.28e-1 SMART
low complexity region 167 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159777
AA Change: A164V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000125751
Gene: ENSMUSG00000063458
AA Change: A164V

DomainStartEndE-ValueType
SCOP:d1h6ua2 34 109 1e-8 SMART
LRRcap 129 147 6.28e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161249
AA Change: A75V

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124221
Gene: ENSMUSG00000063458
AA Change: A75V

DomainStartEndE-ValueType
low complexity region 78 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162337
Predicted Effect probably benign
Transcript: ENSMUST00000162540
AA Change: A164V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000124436
Gene: ENSMUSG00000063458
AA Change: A164V

DomainStartEndE-ValueType
low complexity region 55 82 N/A INTRINSIC
LRRcap 129 147 6.28e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000226003
AA Change: A2V
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,672,726 (GRCm39) E187G probably damaging Het
Asap2 T C 12: 21,256,317 (GRCm39) V205A probably damaging Het
Atg16l1 A G 1: 87,702,575 (GRCm39) I279V probably benign Het
Atp2b2 C T 6: 113,766,932 (GRCm39) V436I possibly damaging Het
Cald1 T A 6: 34,739,196 (GRCm39) S640T possibly damaging Het
Cdc23 A G 18: 34,769,385 (GRCm39) Y460H probably benign Het
Cenpk T A 13: 104,372,742 (GRCm39) probably benign Het
Ctss A G 3: 95,446,036 (GRCm39) E52G probably damaging Het
Cuzd1 A T 7: 130,913,523 (GRCm39) C365S probably damaging Het
Cyp2c55 T C 19: 39,007,093 (GRCm39) L163P probably benign Het
Cyp4f37 T C 17: 32,848,027 (GRCm39) S182P probably benign Het
Flt4 G T 11: 49,525,770 (GRCm39) E740* probably null Het
Galntl6 T A 8: 58,411,356 (GRCm39) R291S probably damaging Het
Hydin G A 8: 111,124,694 (GRCm39) V568I probably benign Het
Ift70a1 A G 2: 75,810,259 (GRCm39) V608A probably benign Het
Kcnab3 A G 11: 69,220,705 (GRCm39) K145R probably benign Het
Lama1 T C 17: 68,109,928 (GRCm39) V2183A probably benign Het
Mbtd1 A G 11: 93,815,258 (GRCm39) E282G probably damaging Het
Muc19 A T 15: 91,783,593 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,859,693 (GRCm39) T1231A probably benign Het
Nkpd1 A G 7: 19,257,387 (GRCm39) T389A possibly damaging Het
Nudt19 A G 7: 35,247,336 (GRCm39) *358Q probably null Het
Nup160 G T 2: 90,530,909 (GRCm39) M522I possibly damaging Het
Obsl1 T A 1: 75,466,400 (GRCm39) probably benign Het
Or4m1 T A 14: 50,557,732 (GRCm39) I187F probably damaging Het
Or5ak24 T C 2: 85,260,484 (GRCm39) T230A probably benign Het
Or5b119 G A 19: 13,457,151 (GRCm39) T137I possibly damaging Het
Osbpl10 C T 9: 115,005,070 (GRCm39) P341S probably benign Het
Papola C A 12: 105,775,856 (GRCm39) C7* probably null Het
Pld1 C A 3: 28,132,386 (GRCm39) L525I probably benign Het
Prom2 T C 2: 127,373,125 (GRCm39) probably benign Het
Psmb5 G A 14: 54,855,264 (GRCm39) T62I possibly damaging Het
Sag A G 1: 87,751,086 (GRCm39) E184G probably benign Het
Slc16a10 T C 10: 39,952,921 (GRCm39) Y191C probably damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Ssx2ip A G 3: 146,133,598 (GRCm39) Y231C probably benign Het
Trib1 A G 15: 59,523,476 (GRCm39) Y170C probably damaging Het
Trmt10a G A 3: 137,862,459 (GRCm39) probably benign Het
Troap G T 15: 98,980,027 (GRCm39) Q402H probably damaging Het
Vmn2r70 G A 7: 85,214,379 (GRCm39) Q258* probably null Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zmym1 A G 4: 126,943,435 (GRCm39) F318L probably damaging Het
Zswim2 A G 2: 83,745,672 (GRCm39) S589P probably benign Het
Other mutations in Lrmda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Lrmda APN 14 22,634,550 (GRCm39) missense probably damaging 1.00
IGL02792:Lrmda APN 14 22,069,978 (GRCm39) critical splice donor site probably null
IGL02826:Lrmda APN 14 22,878,805 (GRCm39) missense probably damaging 1.00
Bowie UTSW 14 22,077,303 (GRCm39) nonsense probably null
Stardust UTSW 14 22,077,374 (GRCm39) missense probably damaging 1.00
R1921:Lrmda UTSW 14 22,627,938 (GRCm39) missense probably damaging 1.00
R3720:Lrmda UTSW 14 22,077,399 (GRCm39) splice site probably benign
R3722:Lrmda UTSW 14 22,077,399 (GRCm39) splice site probably benign
R4242:Lrmda UTSW 14 22,077,303 (GRCm39) nonsense probably null
R5393:Lrmda UTSW 14 22,077,374 (GRCm39) missense probably damaging 1.00
R6562:Lrmda UTSW 14 22,648,254 (GRCm39) intron probably benign
R6749:Lrmda UTSW 14 22,077,344 (GRCm39) missense probably benign 0.02
R7155:Lrmda UTSW 14 22,634,608 (GRCm39) missense probably damaging 1.00
R7560:Lrmda UTSW 14 22,878,770 (GRCm39) missense probably benign 0.15
R7580:Lrmda UTSW 14 22,069,925 (GRCm39) start gained probably benign
R7885:Lrmda UTSW 14 22,648,388 (GRCm39) missense unknown
R7920:Lrmda UTSW 14 22,646,546 (GRCm39) missense probably damaging 1.00
R9217:Lrmda UTSW 14 22,648,361 (GRCm39) missense unknown
Posted On 2013-06-21