Incidental Mutation 'IGL01123:Lrrc23'
ID51349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc23
Ensembl Gene ENSMUSG00000030125
Gene Nameleucine rich repeat containing 23
Synonyms4921537K05Rik, Lrpb7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01123
Quality Score
Status
Chromosome6
Chromosomal Location124769863-124779727 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 124778819 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 75 (D75E)
Ref Sequence ENSEMBL: ENSMUSP00000122362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000128697] [ENSMUST00000147669]
Predicted Effect probably benign
Transcript: ENSMUST00000032218
AA Change: D75E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
AA Change: D75E

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
Pfam:LRR_1 89 109 1.2e-2 PFAM
LRR 196 217 1.33e2 SMART
LRR 218 239 4.97e0 SMART
LRR 241 263 3.27e1 SMART
low complexity region 305 314 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112475
AA Change: D75E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
AA Change: D75E

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
internal_repeat_1 90 182 7.1e-5 PROSPERO
LRR 196 217 1.33e2 SMART
LRR 218 239 4.97e0 SMART
LRR 241 263 3.27e1 SMART
low complexity region 305 314 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128697
AA Change: D75E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000122362
Gene: ENSMUSG00000030125
AA Change: D75E

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132492
Predicted Effect probably benign
Transcript: ENSMUST00000147669
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,973,938 D167E probably damaging Het
Aadat A T 8: 60,526,614 E170V probably benign Het
Acsf2 T C 11: 94,570,450 E300G probably benign Het
Agbl3 C T 6: 34,846,976 Q859* probably null Het
Arhgap11a T C 2: 113,834,773 probably benign Het
Arhgef40 C A 14: 51,994,346 Q730K probably damaging Het
Armc3 C T 2: 19,201,805 P13L possibly damaging Het
B3gnt2 T A 11: 22,836,490 T233S probably benign Het
Bnc1 G A 7: 81,973,707 Q591* probably null Het
Bsn A T 9: 108,115,986 F856I probably damaging Het
CK137956 T A 4: 127,935,850 T558S probably benign Het
Coq8b G A 7: 27,240,084 V180I probably damaging Het
Csmd1 A T 8: 17,534,928 L16Q possibly damaging Het
Dhx37 A G 5: 125,419,088 S769P possibly damaging Het
Diras1 T A 10: 81,022,415 M1L probably damaging Het
Fam161b A G 12: 84,357,664 W81R probably benign Het
Fat4 A T 3: 38,957,269 I2173L probably benign Het
Fbn2 T C 18: 58,104,081 T617A possibly damaging Het
Gabrq G A X: 72,836,833 D311N probably benign Het
Isl2 G T 9: 55,545,462 G335C probably damaging Het
Kbtbd7 T C 14: 79,428,612 V628A probably damaging Het
Kmt2d T C 15: 98,837,148 M5378V unknown Het
Mab21l3 G A 3: 101,835,130 T38M probably benign Het
Matn1 T C 4: 130,950,011 I177T possibly damaging Het
Mtor T C 4: 148,453,037 S60P probably benign Het
Naip6 T C 13: 100,304,438 E278G probably benign Het
Nsun6 T C 2: 15,048,978 I7V possibly damaging Het
Pabpc6 A T 17: 9,668,147 S492T probably benign Het
Pakap C T 4: 57,757,627 Q188* probably null Het
Pom121 A T 5: 135,391,706 V287D unknown Het
Ptprq A T 10: 107,686,218 F624Y probably damaging Het
Ptprr A G 10: 116,188,317 T178A probably benign Het
Pygm A G 19: 6,391,394 N473S probably benign Het
Ros1 A T 10: 52,120,809 Y1256N probably damaging Het
Scpep1 T C 11: 88,941,328 N192S possibly damaging Het
Serpina1f A G 12: 103,694,006 S6P possibly damaging Het
Sgca T A 11: 94,972,287 Q80L probably damaging Het
Skint6 A G 4: 112,804,682 L1235P possibly damaging Het
Slc23a2 A C 2: 132,056,816 N600K probably benign Het
Spata20 T C 11: 94,483,395 T350A probably benign Het
Syne1 G T 10: 5,344,921 Y1227* probably null Het
Unc13c T C 9: 73,933,197 Y124C probably benign Het
Usp40 G A 1: 87,986,123 T416I probably benign Het
Vmn1r200 T C 13: 22,395,401 W116R probably benign Het
Vps4a T C 8: 107,039,219 probably benign Het
Zfyve16 A G 13: 92,492,522 V1469A probably damaging Het
Other mutations in Lrrc23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Lrrc23 APN 6 124778926 missense probably damaging 1.00
IGL02429:Lrrc23 APN 6 124778167 missense probably damaging 0.99
IGL02892:Lrrc23 APN 6 124774436 missense probably benign 0.03
R0440:Lrrc23 UTSW 6 124770704 missense probably benign 0.00
R0637:Lrrc23 UTSW 6 124778358 unclassified probably benign
R1055:Lrrc23 UTSW 6 124778151 missense probably damaging 1.00
R1125:Lrrc23 UTSW 6 124776182 missense probably benign 0.06
R1531:Lrrc23 UTSW 6 124776114 missense possibly damaging 0.91
R4156:Lrrc23 UTSW 6 124770841 nonsense probably null
R4838:Lrrc23 UTSW 6 124778189 missense probably benign 0.16
R5296:Lrrc23 UTSW 6 124774482 missense probably damaging 0.98
R7211:Lrrc23 UTSW 6 124778189 missense probably benign 0.16
R7426:Lrrc23 UTSW 6 124779125 missense unknown
R7488:Lrrc23 UTSW 6 124779112 missense unknown
R7583:Lrrc23 UTSW 6 124779578 start gained probably benign
R7829:Lrrc23 UTSW 6 124770748 missense probably benign 0.00
Posted On2013-06-21