Incidental Mutation 'IGL01715:Lrrc74a'
ID 104915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc74a
Ensembl Gene ENSMUSG00000059114
Gene Name leucine rich repeat containing 74A
Synonyms Gm6772, Lrrc74
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL01715
Quality Score
Status
Chromosome 12
Chromosomal Location 86781143-86810571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86801189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 347 (M347L)
Ref Sequence ENSEMBL: ENSMUSP00000093183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095527] [ENSMUST00000222180] [ENSMUST00000223308]
AlphaFold A0A1Y7VMD6
Predicted Effect probably benign
Transcript: ENSMUST00000095527
AA Change: M347L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000093183
Gene: ENSMUSG00000059114
AA Change: M347L

DomainStartEndE-ValueType
Blast:LRR 87 116 9e-7 BLAST
LRR 117 144 4.17e-3 SMART
LRR 145 172 3.16e-3 SMART
LRR 174 201 1.92e-2 SMART
LRR 202 229 3.07e-1 SMART
LRR 230 257 1.03e-2 SMART
LRR 258 285 1.64e-1 SMART
LRR 286 313 2.03e0 SMART
LRR 314 341 1.11e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222180
Predicted Effect probably benign
Transcript: ENSMUST00000223197
Predicted Effect probably benign
Transcript: ENSMUST00000223308
AA Change: M347L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,258,182 (GRCm39) N498D possibly damaging Het
Ap5s1 T C 2: 131,053,293 (GRCm39) S26P probably damaging Het
Apaf1 T C 10: 90,894,216 (GRCm39) Y473C probably benign Het
Cdc42ep4 C T 11: 113,620,268 (GRCm39) G41D probably damaging Het
Ddx42 T A 11: 106,115,101 (GRCm39) Y60N probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Drd3 T A 16: 43,641,631 (GRCm39) L316M probably damaging Het
Hadha C T 5: 30,325,082 (GRCm39) G703R probably damaging Het
Macf1 G T 4: 123,284,879 (GRCm39) Q4208K probably damaging Het
Myh15 C T 16: 48,877,847 (GRCm39) probably benign Het
Ndufa7 A T 17: 34,057,122 (GRCm39) M101L probably benign Het
Pla2g6 A G 15: 79,202,057 (GRCm39) V38A probably benign Het
Sar1a A G 10: 61,521,406 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,378 (GRCm39) T246A probably damaging Het
Sds C T 5: 120,617,272 (GRCm39) R43* probably null Het
Slc9a9 A G 9: 94,842,499 (GRCm39) Y350C probably damaging Het
Strc T A 2: 121,196,218 (GRCm39) probably null Het
Tln1 A G 4: 43,555,890 (GRCm39) V108A probably damaging Het
Vmn2r111 G T 17: 22,788,054 (GRCm39) probably benign Het
Wnk1 G A 6: 119,925,358 (GRCm39) P1369S probably damaging Het
Zfhx4 T A 3: 5,307,105 (GRCm39) D110E probably benign Het
Zfp462 A G 4: 55,008,586 (GRCm39) Y184C probably benign Het
Other mutations in Lrrc74a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Lrrc74a APN 12 86,801,204 (GRCm39) missense probably damaging 1.00
IGL01380:Lrrc74a APN 12 86,808,496 (GRCm39) missense possibly damaging 0.62
IGL01832:Lrrc74a APN 12 86,808,488 (GRCm39) missense probably benign 0.00
IGL01953:Lrrc74a APN 12 86,788,494 (GRCm39) missense probably damaging 1.00
IGL02218:Lrrc74a APN 12 86,795,822 (GRCm39) missense probably benign 0.15
IGL02637:Lrrc74a APN 12 86,788,521 (GRCm39) nonsense probably null
IGL03397:Lrrc74a APN 12 86,805,312 (GRCm39) missense probably benign 0.39
R0201:Lrrc74a UTSW 12 86,808,547 (GRCm39) splice site probably benign
R0360:Lrrc74a UTSW 12 86,784,569 (GRCm39) missense probably damaging 1.00
R0403:Lrrc74a UTSW 12 86,787,753 (GRCm39) missense probably damaging 1.00
R0729:Lrrc74a UTSW 12 86,792,353 (GRCm39) nonsense probably null
R1675:Lrrc74a UTSW 12 86,787,800 (GRCm39) missense probably damaging 1.00
R1774:Lrrc74a UTSW 12 86,795,827 (GRCm39) missense probably damaging 1.00
R1818:Lrrc74a UTSW 12 86,784,484 (GRCm39) missense probably damaging 1.00
R4688:Lrrc74a UTSW 12 86,784,472 (GRCm39) nonsense probably null
R6023:Lrrc74a UTSW 12 86,805,380 (GRCm39) missense probably damaging 1.00
R6190:Lrrc74a UTSW 12 86,783,263 (GRCm39) missense probably benign 0.01
R6226:Lrrc74a UTSW 12 86,795,231 (GRCm39) missense possibly damaging 0.87
R6247:Lrrc74a UTSW 12 86,805,330 (GRCm39) missense probably damaging 1.00
R7275:Lrrc74a UTSW 12 86,787,753 (GRCm39) missense probably damaging 1.00
R7631:Lrrc74a UTSW 12 86,795,884 (GRCm39) missense probably damaging 1.00
R7857:Lrrc74a UTSW 12 86,788,485 (GRCm39) missense probably benign 0.00
R8172:Lrrc74a UTSW 12 86,788,530 (GRCm39) missense probably damaging 1.00
R8715:Lrrc74a UTSW 12 86,805,239 (GRCm39) missense probably damaging 1.00
R8717:Lrrc74a UTSW 12 86,783,253 (GRCm39) missense probably damaging 0.99
R9080:Lrrc74a UTSW 12 86,795,908 (GRCm39) missense possibly damaging 0.87
R9612:Lrrc74a UTSW 12 86,805,345 (GRCm39) missense possibly damaging 0.84
X0024:Lrrc74a UTSW 12 86,795,819 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21