Incidental Mutation 'IGL02585:Lrrc19'
ID299518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc19
Ensembl Gene ENSMUSG00000049799
Gene Nameleucine rich repeat containing 19
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02585
Quality Score
Status
Chromosome4
Chromosomal Location94636653-94650144 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 94643325 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 17 (S17T)
Ref Sequence ENSEMBL: ENSMUSP00000102718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030311] [ENSMUST00000053419] [ENSMUST00000107101] [ENSMUST00000107104]
Predicted Effect probably benign
Transcript: ENSMUST00000030311
SMART Domains Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 47 62 N/A INTRINSIC
coiled coil region 98 271 N/A INTRINSIC
coiled coil region 302 382 N/A INTRINSIC
coiled coil region 430 490 N/A INTRINSIC
coiled coil region 512 546 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000053419
AA Change: S17T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056094
Gene: ENSMUSG00000049799
AA Change: S17T

DomainStartEndE-ValueType
LRR 69 93 3.36e2 SMART
LRR 94 117 4.32e0 SMART
LRR 118 141 1.71e1 SMART
LRR 142 166 1.09e2 SMART
LRRCT 174 225 1.24e-6 SMART
Pfam:LRR19-TM 250 364 8.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107101
AA Change: S17T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102718
Gene: ENSMUSG00000049799
AA Change: S17T

DomainStartEndE-ValueType
LRR 69 93 3.36e2 SMART
LRR 94 117 4.32e0 SMART
LRR 118 141 1.71e1 SMART
LRR 142 166 1.09e2 SMART
LRRCT 174 225 1.24e-6 SMART
Pfam:LRR19-TM 245 364 9.3e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107104
SMART Domains Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 47 62 N/A INTRINSIC
coiled coil region 98 271 N/A INTRINSIC
coiled coil region 302 352 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,515,057 I603T possibly damaging Het
Aebp1 A G 11: 5,870,855 probably null Het
Atp5k T C 5: 108,434,070 Y16C probably damaging Het
BC003331 T A 1: 150,363,521 T384S probably damaging Het
Ccdc122 A T 14: 77,092,762 probably benign Het
Ccdc83 C T 7: 90,236,912 R213Q probably damaging Het
Cd38 G A 5: 43,910,302 V292M probably damaging Het
Eps8l1 T C 7: 4,469,213 S26P probably damaging Het
Gdpd1 A T 11: 87,073,976 M1K probably null Het
Inmt T A 6: 55,173,446 I69F probably damaging Het
Macf1 G T 4: 123,472,284 Q1330K probably benign Het
Map4k3 C A 17: 80,653,919 probably benign Het
Musk A G 4: 58,347,849 T329A probably benign Het
Nhs T C X: 161,841,764 E863G probably damaging Het
Nts T A 10: 102,482,468 I125F probably benign Het
Phip G A 9: 82,903,188 L825F probably benign Het
Prr14l T C 5: 32,829,484 H889R possibly damaging Het
Rbm15b T C 9: 106,885,826 Q381R probably benign Het
Rtn1 C A 12: 72,308,155 probably null Het
Ryr3 A G 2: 112,712,303 L3167P probably damaging Het
Scfd1 G A 12: 51,387,107 E61K probably damaging Het
Sgce A G 6: 4,711,388 probably benign Het
Slc17a6 T A 7: 51,625,349 V52E probably benign Het
Slc38a11 T C 2: 65,335,791 D212G probably benign Het
Snx14 T C 9: 88,404,518 K356R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssc4d A G 5: 135,970,338 S4P possibly damaging Het
Tas2r119 A G 15: 32,177,533 T82A probably benign Het
Ush2a A T 1: 188,728,333 Q2597L probably benign Het
Uspl1 C T 5: 149,214,062 Q691* probably null Het
Ythdf3 T C 3: 16,189,478 V17A probably benign Het
Zscan29 T A 2: 121,163,876 R543* probably null Het
Other mutations in Lrrc19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Lrrc19 APN 4 94638508 missense probably damaging 0.99
R0087:Lrrc19 UTSW 4 94640772 missense probably damaging 1.00
R0629:Lrrc19 UTSW 4 94638252 missense probably damaging 1.00
R1172:Lrrc19 UTSW 4 94638389 nonsense probably null
R1572:Lrrc19 UTSW 4 94638429 missense probably damaging 1.00
R1576:Lrrc19 UTSW 4 94639353 missense probably damaging 1.00
R1589:Lrrc19 UTSW 4 94640950 missense probably benign 0.24
R2107:Lrrc19 UTSW 4 94639294 missense probably benign
R4734:Lrrc19 UTSW 4 94638349 missense probably benign 0.01
R4932:Lrrc19 UTSW 4 94640937 missense probably damaging 1.00
R6079:Lrrc19 UTSW 4 94643343 missense probably benign 0.17
R6969:Lrrc19 UTSW 4 94639373 missense probably benign 0.44
R7293:Lrrc19 UTSW 4 94638390 missense probably benign 0.07
R7596:Lrrc19 UTSW 4 94643355 missense probably benign
R7914:Lrrc19 UTSW 4 94638300 missense probably damaging 0.97
R8333:Lrrc19 UTSW 4 94639350 missense probably benign 0.03
Posted On2015-04-16