Incidental Mutation 'IGL01966:Lrrc24'
ID181547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc24
Ensembl Gene ENSMUSG00000033707
Gene Nameleucine rich repeat containing 24
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL01966
Quality Score
Status
Chromosome15
Chromosomal Location76715276-76722173 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 76718311 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 125 (A125S)
Ref Sequence ENSEMBL: ENSMUSP00000061906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036247] [ENSMUST00000036423] [ENSMUST00000049956] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000142610] [ENSMUST00000155735] [ENSMUST00000228990]
Predicted Effect probably benign
Transcript: ENSMUST00000036247
SMART Domains Protein: ENSMUSP00000039910
Gene: ENSMUSG00000116138

DomainStartEndE-ValueType
Pfam:DUF4505 31 209 5.4e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036423
SMART Domains Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049956
AA Change: A125S

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707
AA Change: A125S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LRRNT 30 62 1.04e-2 SMART
LRR 61 80 3.18e2 SMART
LRR_TYP 81 104 2.99e-4 SMART
LRR 106 128 3.87e1 SMART
LRR_TYP 129 152 8.22e-2 SMART
LRR_TYP 153 176 5.06e-2 SMART
LRR 177 200 2.02e-1 SMART
LRRCT 212 266 2e-10 SMART
IGc2 280 360 1.02e-9 SMART
transmembrane domain 409 431 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127208
SMART Domains Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136840
SMART Domains Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137649
SMART Domains Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142506
Predicted Effect probably benign
Transcript: ENSMUST00000142610
SMART Domains Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154531
Predicted Effect probably benign
Transcript: ENSMUST00000155735
SMART Domains Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231059
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik A G 4: 155,734,069 probably null Het
Acer2 T A 4: 86,917,578 *230R probably null Het
Adamts12 A G 15: 11,258,183 K527E probably damaging Het
Anks1b C A 10: 90,895,132 R937S probably damaging Het
C2cd5 G T 6: 143,012,041 C989* probably null Het
Col14a1 A G 15: 55,448,725 probably benign Het
Cramp1l T A 17: 24,982,943 T522S probably benign Het
Cyp2c70 A T 19: 40,153,572 probably benign Het
Elmod1 T A 9: 53,921,327 I224F probably benign Het
Emx2 T A 19: 59,459,589 I24N possibly damaging Het
Fam26e T C 10: 34,096,133 H102R probably benign Het
Fga A T 3: 83,029,154 I86F probably damaging Het
Fig4 C A 10: 41,232,102 probably null Het
Gm10234 T C 6: 95,322,137 probably null Het
Gm12588 A T 11: 121,906,735 I96N probably benign Het
Grm3 A G 5: 9,511,486 I788T probably damaging Het
Homer3 A G 8: 70,290,157 K173E probably damaging Het
Kansl1l A G 1: 66,738,068 V635A probably damaging Het
Kctd3 C T 1: 188,992,662 G241R probably damaging Het
Krt8 G T 15: 101,997,670 S423R probably benign Het
Muc4 T C 16: 32,751,426 S435P possibly damaging Het
Nfkb2 G A 19: 46,309,690 G502D probably benign Het
Nlrp6 G A 7: 140,925,190 C750Y probably damaging Het
Olfr904 A T 9: 38,464,929 D296V possibly damaging Het
Oxsm T C 14: 16,242,520 N83S probably benign Het
Paqr3 A G 5: 97,099,643 L202P probably benign Het
Pcdh10 T A 3: 45,380,298 L349Q probably benign Het
Ptdss2 A G 7: 141,135,391 T29A possibly damaging Het
Rbbp8nl G A 2: 180,280,989 probably benign Het
Rc3h2 A G 2: 37,382,777 probably benign Het
Ric1 A T 19: 29,595,563 Y801F probably benign Het
Sgcz A T 8: 37,640,015 S114R probably damaging Het
Tenm4 A G 7: 96,553,550 D124G probably damaging Het
Zscan22 T G 7: 12,906,471 M214R probably benign Het
Other mutations in Lrrc24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Lrrc24 APN 15 76718063 missense probably damaging 1.00
IGL01556:Lrrc24 APN 15 76722575 missense probably damaging 0.99
IGL01940:Lrrc24 APN 15 76716057 missense probably damaging 1.00
IGL02315:Lrrc24 APN 15 76718306 missense probably damaging 1.00
IGL03062:Lrrc24 APN 15 76718304 missense probably benign
R0240:Lrrc24 UTSW 15 76723209 missense probably damaging 1.00
R0240:Lrrc24 UTSW 15 76723209 missense probably damaging 1.00
R0365:Lrrc24 UTSW 15 76715784 missense probably benign 0.14
R1430:Lrrc24 UTSW 15 76723792 unclassified probably null
R1789:Lrrc24 UTSW 15 76722578 missense probably benign 0.02
R2131:Lrrc24 UTSW 15 76715581 missense possibly damaging 0.92
R2202:Lrrc24 UTSW 15 76722911 missense probably damaging 1.00
R4247:Lrrc24 UTSW 15 76717976 missense possibly damaging 0.89
R4585:Lrrc24 UTSW 15 76723689 missense probably damaging 1.00
R4944:Lrrc24 UTSW 15 76718346 missense probably damaging 1.00
R4976:Lrrc24 UTSW 15 76716000 missense probably benign 0.00
R5119:Lrrc24 UTSW 15 76716000 missense probably benign 0.00
R5445:Lrrc24 UTSW 15 76716106 missense probably benign 0.10
R5772:Lrrc24 UTSW 15 76722710 missense probably damaging 1.00
X0028:Lrrc24 UTSW 15 76715913 missense probably damaging 1.00
Posted On2014-05-07