Incidental Mutation 'IGL02750:Lrrc28'
ID306251
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc28
Ensembl Gene ENSMUSG00000030556
Gene Nameleucine rich repeat containing 28
Synonyms2210012C09Rik, 1300004K21Rik, 2310058O11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL02750
Quality Score
Status
Chromosome7
Chromosomal Location67513410-67645268 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67531683 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 268 (D268G)
Ref Sequence ENSEMBL: ENSMUSP00000052177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053950] [ENSMUST00000187953] [ENSMUST00000191035]
Predicted Effect probably damaging
Transcript: ENSMUST00000053950
AA Change: D268G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052177
Gene: ENSMUSG00000030556
AA Change: D268G

DomainStartEndE-ValueType
LRR 40 63 1.33e-1 SMART
LRR 64 86 3.24e0 SMART
LRR 87 109 1.06e1 SMART
LRR_TYP 110 132 6.67e-2 SMART
LRR 133 156 6.4e0 SMART
LRR 179 202 1.64e-1 SMART
low complexity region 304 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185818
Predicted Effect probably benign
Transcript: ENSMUST00000187953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190770
Predicted Effect probably benign
Transcript: ENSMUST00000191035
SMART Domains Protein: ENSMUSP00000140382
Gene: ENSMUSG00000030556

DomainStartEndE-ValueType
LRR 40 63 1.33e-1 SMART
LRR 64 86 3.24e0 SMART
LRR 87 109 1.06e1 SMART
LRR 110 132 8.09e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191062
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,548,791 K884R probably benign Het
Ano3 T A 2: 110,665,984 probably benign Het
Baz2b C A 2: 59,968,658 S374I possibly damaging Het
Brd4 G A 17: 32,198,379 probably benign Het
Cd3g C A 9: 44,971,310 probably benign Het
Ckmt1 C T 2: 121,363,615 probably benign Het
Clcnkb T C 4: 141,405,362 probably null Het
Dkkl1 C T 7: 45,210,112 probably null Het
Ehmt1 G A 2: 24,863,869 T161I probably damaging Het
Ern2 A G 7: 122,181,406 probably benign Het
Fmnl2 T C 2: 53,103,697 I368T possibly damaging Het
Gabra5 G T 7: 57,507,991 S25Y probably benign Het
Gemin7 C T 7: 19,565,419 V84M probably null Het
Gm17654 A G 14: 43,578,199 probably benign Het
Grk6 T C 13: 55,451,543 F186S probably damaging Het
Gtf2ird2 A G 5: 134,216,889 H663R probably damaging Het
Gtf3c1 T A 7: 125,676,512 I581F probably damaging Het
Herc2 T A 7: 56,204,379 probably benign Het
Hook3 A T 8: 26,095,754 probably benign Het
Ints4 T A 7: 97,517,757 probably null Het
Kpna6 T C 4: 129,661,377 N20D probably damaging Het
Krtap29-1 T C 11: 99,978,684 S124G probably benign Het
Krtap4-16 C A 11: 99,851,280 R98L possibly damaging Het
Mcm6 T A 1: 128,343,472 Q470L probably damaging Het
Neb T C 2: 52,291,055 H1180R probably benign Het
Nxpe3 C A 16: 55,860,375 V285L probably benign Het
Olfr118 T A 17: 37,672,609 C195* probably null Het
Olfr1281 A G 2: 111,329,288 R290G probably damaging Het
Olfr307 T A 7: 86,335,544 N284I probably damaging Het
Pdcd1 A G 1: 94,039,544 probably benign Het
Pnkp A G 7: 44,860,187 probably benign Het
Pou4f2 A T 8: 78,435,063 F304I probably damaging Het
Rita1 G A 5: 120,609,651 T194M possibly damaging Het
Rnpc3 T C 3: 113,621,939 T150A possibly damaging Het
Sema3b T C 9: 107,603,164 T168A probably benign Het
Skint5 T A 4: 113,539,362 M1205L unknown Het
Sox13 A C 1: 133,383,796 I566S probably benign Het
Tbc1d32 T C 10: 56,198,491 T209A possibly damaging Het
Tonsl G T 15: 76,633,389 P710Q probably damaging Het
Trpm5 T C 7: 143,074,484 H1018R possibly damaging Het
Ubr2 A T 17: 46,969,282 M647K probably benign Het
Ubr7 A T 12: 102,771,278 T395S possibly damaging Het
Uri1 G A 7: 37,967,481 R176* probably null Het
Vmn1r188 A T 13: 22,088,730 I285F probably damaging Het
Vmn2r116 T A 17: 23,397,634 probably benign Het
Vmn2r2 C A 3: 64,117,402 C586F probably damaging Het
Vmn2r96 T A 17: 18,582,589 W62R probably benign Het
Zfp24 A T 18: 24,017,353 S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 K1254R probably null Het
Other mutations in Lrrc28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Lrrc28 APN 7 67628294 critical splice donor site probably null
IGL01583:Lrrc28 APN 7 67545475 splice site probably null
IGL02033:Lrrc28 APN 7 67559857 critical splice donor site probably null
IGL02483:Lrrc28 APN 7 67617983 splice site probably benign
R0549:Lrrc28 UTSW 7 67628342 splice site probably benign
R0563:Lrrc28 UTSW 7 67545387 missense probably damaging 1.00
R0650:Lrrc28 UTSW 7 67618085 missense probably damaging 1.00
R0652:Lrrc28 UTSW 7 67618085 missense probably damaging 1.00
R1557:Lrrc28 UTSW 7 67559929 missense probably damaging 1.00
R1820:Lrrc28 UTSW 7 67641111 missense probably damaging 0.98
R2149:Lrrc28 UTSW 7 67531682 missense probably damaging 0.96
R2185:Lrrc28 UTSW 7 67545453 missense possibly damaging 0.70
R4479:Lrrc28 UTSW 7 67531614 critical splice donor site probably null
R5205:Lrrc28 UTSW 7 67531768 missense probably benign 0.00
R7008:Lrrc28 UTSW 7 67595711 intron probably benign
Z1088:Lrrc28 UTSW 7 67529631 missense possibly damaging 0.89
Posted On2015-04-16