Incidental Mutation 'IGL02792:Lrmda'
ID 359818
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 # IGL02792
Quality Score
Status
Chromosome 14
Chromosomal Location 22069780-23106153 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 22069978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075639] [ENSMUST00000075639] [ENSMUST00000159777] [ENSMUST00000159777] [ENSMUST00000161249] [ENSMUST00000161249] [ENSMUST00000162540] [ENSMUST00000162540]
AlphaFold Q9D9B4
Predicted Effect probably null
Transcript: ENSMUST00000075639
SMART Domains Protein: ENSMUSP00000075065
Gene: ENSMUSG00000063458

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 null
Transcript: ENSMUST00000075639
SMART Domains Protein: ENSMUSP00000075065
Gene: ENSMUSG00000063458

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 null
Transcript: ENSMUST00000159777
SMART Domains Protein: ENSMUSP00000125751
Gene: ENSMUSG00000063458

DomainStartEndE-ValueType
SCOP:d1h6ua2 34 109 1e-8 SMART
LRRcap 129 147 6.28e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000159777
SMART Domains Protein: ENSMUSP00000125751
Gene: ENSMUSG00000063458

DomainStartEndE-ValueType
SCOP:d1h6ua2 34 109 1e-8 SMART
LRRcap 129 147 6.28e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161249
SMART Domains Protein: ENSMUSP00000124221
Gene: ENSMUSG00000063458

DomainStartEndE-ValueType
low complexity region 78 95 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161249
SMART Domains Protein: ENSMUSP00000124221
Gene: ENSMUSG00000063458

DomainStartEndE-ValueType
low complexity region 78 95 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000162540
SMART Domains Protein: ENSMUSP00000124436
Gene: ENSMUSG00000063458

DomainStartEndE-ValueType
low complexity region 55 82 N/A INTRINSIC
LRRcap 129 147 6.28e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000162540
SMART Domains Protein: ENSMUSP00000124436
Gene: ENSMUSG00000063458

DomainStartEndE-ValueType
low complexity region 55 82 N/A INTRINSIC
LRRcap 129 147 6.28e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183726
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,401,107 (GRCm39) V131M probably benign Het
Abca6 A T 11: 110,079,507 (GRCm39) C1216S probably damaging Het
Acly T C 11: 100,369,236 (GRCm39) K1018E probably damaging Het
Acsl5 G A 19: 55,282,163 (GRCm39) probably null Het
Adgrb1 C A 15: 74,419,471 (GRCm39) L771I probably damaging Het
Adh7 A T 3: 137,929,498 (GRCm39) K89I probably damaging Het
Adora2b A T 11: 62,156,309 (GRCm39) I253F possibly damaging Het
Akna G A 4: 63,295,943 (GRCm39) P975S possibly damaging Het
Alg9 T C 9: 50,754,048 (GRCm39) L576P possibly damaging Het
Arhgap20 A G 9: 51,761,218 (GRCm39) E1023G possibly damaging Het
Astn2 A T 4: 65,563,058 (GRCm39) S908T probably benign Het
Atp1a4 C T 1: 172,054,866 (GRCm39) probably null Het
Cabin1 T C 10: 75,582,573 (GRCm39) Y281C probably damaging Het
Cdc42bpb G T 12: 111,265,995 (GRCm39) F1312L probably benign Het
Cfap65 A C 1: 74,966,337 (GRCm39) F330C probably damaging Het
Col27a1 C T 4: 63,233,820 (GRCm39) P689S unknown Het
Col4a3 A T 1: 82,696,524 (GRCm39) K1643N probably damaging Het
Dop1b T A 16: 93,598,460 (GRCm39) V1875D possibly damaging Het
Eftud2 A G 11: 102,761,082 (GRCm39) probably benign Het
Ergic3 C A 2: 155,859,770 (GRCm39) T357K probably damaging Het
Glra1 A T 11: 55,427,226 (GRCm39) D36E probably damaging Het
Gpatch1 A G 7: 35,001,018 (GRCm39) Y330H probably damaging Het
Hmcn2 T C 2: 31,236,602 (GRCm39) S382P probably damaging Het
Kat6a G A 8: 23,428,316 (GRCm39) E1224K probably damaging Het
Klk13 A G 7: 43,370,838 (GRCm39) E29G possibly damaging Het
Klra9 T C 6: 130,165,643 (GRCm39) D124G probably benign Het
Ltbp1 G A 17: 75,589,989 (GRCm39) V539M probably damaging Het
Ngfr A C 11: 95,462,687 (GRCm39) L317R probably damaging Het
Nlrp6 C A 7: 140,502,348 (GRCm39) H151Q probably damaging Het
Nnt A G 13: 119,494,182 (GRCm39) L633P probably damaging Het
Nxpe3 C T 16: 55,686,535 (GRCm39) V158M probably damaging Het
Or11i1 T C 3: 106,729,456 (GRCm39) T140A probably damaging Het
Or2d36 T C 7: 106,747,425 (GRCm39) F301L probably benign Het
Or7g16 C T 9: 18,727,254 (GRCm39) S112N probably benign Het
Pla2g4f T C 2: 120,133,850 (GRCm39) Y517C probably damaging Het
Poc1a A T 9: 106,172,393 (GRCm39) I207F possibly damaging Het
Polr2a A G 11: 69,636,938 (GRCm39) S338P probably damaging Het
Ptprz1 T C 6: 22,959,722 (GRCm39) V73A probably damaging Het
Relb A T 7: 19,347,789 (GRCm39) L281Q probably damaging Het
Rrp8 A T 7: 105,383,018 (GRCm39) L382* probably null Het
Setd1a C T 7: 127,390,522 (GRCm39) S523F unknown Het
Slamf8 A G 1: 172,415,697 (GRCm39) I47T probably damaging Het
Slc16a4 G A 3: 107,206,193 (GRCm39) A88T probably benign Het
Sox6 C T 7: 115,140,884 (GRCm39) M532I probably benign Het
Tcp11l1 T A 2: 104,512,165 (GRCm39) Y489F probably benign Het
Tdrd6 T G 17: 43,935,918 (GRCm39) D1710A probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Vangl1 A T 3: 102,070,739 (GRCm39) I399N probably damaging Het
Vmn1r201 T C 13: 22,659,014 (GRCm39) L76P probably damaging Het
Vmn1r58 T C 7: 5,414,228 (GRCm39) M1V probably null Het
Wdfy4 T C 14: 32,817,262 (GRCm39) I1561V probably benign Het
Xkr9 A G 1: 13,771,027 (GRCm39) D181G probably damaging Het
Zfp318 T C 17: 46,720,104 (GRCm39) F1101L probably damaging Het
Zfpm2 C A 15: 40,966,409 (GRCm39) Q833K probably benign Het
Other mutations in Lrmda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Lrmda APN 14 22,646,585 (GRCm39) missense possibly damaging 0.49
IGL01982:Lrmda APN 14 22,634,550 (GRCm39) missense probably damaging 1.00
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 2015-12-18