Incidental Mutation 'IGL03397:Lrrc74a'
ID 421306
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 # IGL03397
Quality Score
Status
Chromosome 12
Chromosomal Location 86781143-86810571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86805312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 378 (V378A)
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: V378A

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093183
Gene: ENSMUSG00000059114
AA Change: V378A

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: V378A

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,772,743 (GRCm39) Y51F probably benign Het
Ankrd42 G A 7: 92,268,762 (GRCm39) L194F probably damaging Het
Ccdc81 G T 7: 89,546,036 (GRCm39) T56N probably damaging Het
Cdh10 T C 15: 18,964,114 (GRCm39) I92T probably damaging Het
Csta3 A T 16: 36,033,984 (GRCm39) I55F probably damaging Het
Eif2b4 A G 5: 31,344,997 (GRCm39) I550T probably damaging Het
Epb41l3 A G 17: 69,555,687 (GRCm39) Y304C probably damaging Het
Gm10244 A G 6: 39,397,740 (GRCm39) probably benign Het
H2bc14 T C 13: 21,906,551 (GRCm39) I95T possibly damaging Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mctp2 A G 7: 71,909,025 (GRCm39) L96P probably damaging Het
Nlrp5 G A 7: 23,112,759 (GRCm39) V139M probably damaging Het
Nrcam T G 12: 44,606,540 (GRCm39) S429A probably damaging Het
Or5an11 C A 19: 12,245,866 (GRCm39) Q91K probably benign Het
Pdgfrb A T 18: 61,212,753 (GRCm39) T886S probably benign Het
Rapgef5 T A 12: 117,712,176 (GRCm39) F754L probably damaging Het
Sbf1 T C 15: 89,172,924 (GRCm39) K1863R probably damaging Het
Sis T C 3: 72,843,212 (GRCm39) T751A probably benign Het
Six3 G T 17: 85,929,074 (GRCm39) R136L probably damaging Het
Slc6a12 A G 6: 121,334,004 (GRCm39) D280G probably damaging Het
Sox2 A G 3: 34,704,686 (GRCm39) D41G probably damaging Het
Stxbp4 A T 11: 90,431,060 (GRCm39) L417M probably damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tex55 G A 16: 38,649,055 (GRCm39) P18L probably damaging Het
Tgm2 T C 2: 157,962,178 (GRCm39) Y547C probably damaging Het
Thsd7b A G 1: 129,523,901 (GRCm39) R312G probably benign Het
Tmem94 G T 11: 115,678,394 (GRCm39) probably benign Het
Usp39 A G 6: 72,313,296 (GRCm39) M298T possibly damaging Het
Vmn2r85 C T 10: 130,261,263 (GRCm39) C358Y probably damaging Het
Zscan18 A T 7: 12,507,488 (GRCm39) S497T probably damaging 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
IGL01715:Lrrc74a APN 12 86,801,189 (GRCm39) missense probably benign 0.05
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
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 2016-08-02