Incidental Mutation 'IGL01548:Lrrc28'
ID 93243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc28
Ensembl Gene ENSMUSG00000030556
Gene Name leucine rich repeat containing 28
Synonyms 2210012C09Rik, 1300004K21Rik, 2310058O11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL01548
Quality Score
Status
Chromosome 7
Chromosomal Location 67513410-67645268 bp(-) (GRCm38)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 67628294 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032775] [ENSMUST00000053950] [ENSMUST00000187953] [ENSMUST00000189836] [ENSMUST00000190276] [ENSMUST00000191035]
AlphaFold Q3TX51
Predicted Effect probably null
Transcript: ENSMUST00000032775
SMART Domains Protein: ENSMUSP00000032775
Gene: ENSMUSG00000030556

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 7.78e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000053950
SMART Domains Protein: ENSMUSP00000052177
Gene: ENSMUSG00000030556

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 probably benign
Transcript: ENSMUST00000187953
Predicted Effect probably null
Transcript: ENSMUST00000189836
SMART Domains Protein: ENSMUSP00000139606
Gene: ENSMUSG00000030556

DomainStartEndE-ValueType
Pfam:LRR_1 42 64 5.5e-2 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000190276
SMART Domains Protein: ENSMUSP00000140972
Gene: ENSMUSG00000030556

DomainStartEndE-ValueType
LRR 40 59 3.7e-3 SMART
LRR 64 83 1.2e0 SMART
LRR 87 109 4.4e-2 SMART
LRR_TYP 110 133 2.3e-6 SMART
LRR 133 153 1.1e0 SMART
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
Meta Mutation Damage Score 0.9592 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,814,259 N110D probably damaging Het
Acot3 C T 12: 84,057,089 T224I probably benign Het
Adamts18 C T 8: 113,764,299 G512E probably damaging Het
Atp4b A G 8: 13,389,679 I181T probably damaging Het
Bcl11a A G 11: 24,163,346 I230V probably benign Het
Cenpj C A 14: 56,532,319 V1138L probably benign Het
Cep78 A G 19: 15,981,200 probably benign Het
Clec2j T A 6: 128,655,978 noncoding transcript Het
Col5a3 T C 9: 20,803,000 probably benign Het
Cpne6 A T 14: 55,512,726 T105S probably damaging Het
Csmd1 A T 8: 16,288,646 Y482* probably null Het
Ctrl C A 8: 105,933,258 probably benign Het
Dhcr24 T A 4: 106,573,871 C252* probably null Het
Dnah17 G A 11: 118,098,612 P1261S probably benign Het
Dnaic2 T C 11: 114,752,942 L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,831,405 S191A probably damaging Het
Fam205c T C 4: 42,868,564 E353G probably benign Het
Fat4 G A 3: 39,009,257 C4454Y probably damaging Het
Fat4 T C 3: 38,887,758 S267P probably damaging Het
Frrs1 T C 3: 116,885,185 C219R probably damaging Het
Gabra6 T A 11: 42,317,023 Q207L probably damaging Het
Gm19668 A T 10: 77,798,408 C242* probably null Het
Gm2840 G A 5: 96,174,277 noncoding transcript Het
Gm6614 A G 6: 141,992,512 I227T possibly damaging Het
Gm8765 A G 13: 50,700,378 T91A probably benign Het
Gmcl1p1 G A X: 3,078,226 G423S probably benign Het
Golim4 C T 3: 75,908,125 probably null Het
Gucy1b1 G T 3: 82,034,862 T530K probably damaging Het
Hacl1 A T 14: 31,640,596 D31E possibly damaging Het
Hectd4 A G 5: 121,364,660 T4276A possibly damaging Het
Henmt1 T C 3: 108,942,779 I26T probably damaging Het
Hspa1l G A 17: 34,978,391 A469T probably damaging Het
Htra3 T A 5: 35,664,076 probably null Het
Mfhas1 T C 8: 35,590,459 L696P probably damaging Het
Mios A G 6: 8,234,252 K808E possibly damaging Het
Mtnr1b A G 9: 15,863,200 Y188H probably damaging Het
Myom1 A G 17: 71,101,220 probably benign Het
Naca A T 10: 128,040,904 probably benign Het
Nckap1l T A 15: 103,462,720 V213D probably benign Het
Ndufa6 C T 15: 82,354,081 V50M possibly damaging Het
Olfr1000 A G 2: 85,608,761 W50R probably benign Het
Olfr1055 T A 2: 86,347,733 Y11F possibly damaging Het
Olfr1260 T A 2: 89,978,539 F254I possibly damaging Het
Olfr1465 A G 19: 13,313,986 F100L possibly damaging Het
Olfr923 A G 9: 38,828,350 T220A probably benign Het
Osbpl1a T C 18: 12,763,575 Y311C probably damaging Het
Parp11 A C 6: 127,491,599 Y204S probably damaging Het
Pla2g4a A G 1: 149,932,656 probably null Het
Plec T C 15: 76,189,258 R519G probably benign Het
Ppp2r5c T A 12: 110,567,827 Y375N probably benign Het
Prss35 C A 9: 86,755,274 S32R probably benign Het
Prss57 C T 10: 79,785,747 probably benign Het
Ptprc A C 1: 138,099,481 probably null Het
Rims1 A G 1: 22,538,602 C188R probably damaging Het
Ripk4 G T 16: 97,751,496 Y144* probably null Het
Rpgrip1 A T 14: 52,126,271 probably benign Het
Rps6ka4 A G 19: 6,832,323 V378A probably benign Het
Rtf1 A G 2: 119,712,108 K298E probably benign Het
Sdk1 T C 5: 142,085,765 F1237L possibly damaging Het
Slc40a1 T C 1: 45,909,492 K543E probably benign Het
Sorcs3 A T 19: 48,794,168 I1041F possibly damaging Het
Taok3 T C 5: 117,272,197 M818T probably benign Het
Tas2r119 T A 15: 32,177,977 F230I probably damaging Het
Tbc1d8 T C 1: 39,381,304 D716G probably damaging Het
Tfg A G 16: 56,701,102 S58P probably damaging Het
Thnsl1 A G 2: 21,213,132 I45V probably damaging Het
Tle1 A G 4: 72,170,718 L96P probably damaging Het
Tmem260 A C 14: 48,480,325 S276R possibly damaging Het
Utp20 A G 10: 88,764,781 S24P probably damaging Het
Vcam1 T C 3: 116,115,951 I576V probably benign Het
Vmn1r27 G T 6: 58,215,553 N105K probably benign Het
Vmn2r12 A C 5: 109,093,027 Y73* probably null Het
Vmn2r86 T C 10: 130,446,282 I822V probably benign Het
Wdr6 C T 9: 108,574,897 V596I possibly damaging Het
Zfp946 A T 17: 22,454,662 K132N possibly damaging Het
Other mutations in Lrrc28
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02750:Lrrc28 APN 7 67531683 missense probably damaging 0.96
BB002:Lrrc28 UTSW 7 67619109 missense probably damaging 1.00
BB012:Lrrc28 UTSW 7 67619109 missense probably damaging 1.00
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
R7925:Lrrc28 UTSW 7 67619109 missense probably damaging 1.00
R8323:Lrrc28 UTSW 7 67595707 missense unknown
R8360:Lrrc28 UTSW 7 67641161 missense probably benign 0.01
R8898:Lrrc28 UTSW 7 67628294 critical splice donor site probably null
R8919:Lrrc28 UTSW 7 67619085 missense possibly damaging 0.88
R9412:Lrrc28 UTSW 7 67531764 missense probably damaging 1.00
Z1088:Lrrc28 UTSW 7 67529631 missense possibly damaging 0.89
Posted On 2013-12-09