Incidental Mutation 'IGL00503:Larp4'
ID332474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Larp4
Ensembl Gene ENSMUSG00000023025
Gene NameLa ribonucleoprotein domain family, member 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL00503
Quality Score
Status
Chromosome15
Chromosomal Location99970065-100016358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99987421 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 51 (I51N)
Ref Sequence ENSEMBL: ENSMUSP00000155661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057632] [ENSMUST00000100206] [ENSMUST00000230521] [ENSMUST00000230956] [ENSMUST00000231160]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057632
AA Change: I109N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: I109N

DomainStartEndE-ValueType
LA 112 190 2.44e-40 SMART
RRM 195 265 3.28e-2 SMART
low complexity region 375 388 N/A INTRINSIC
low complexity region 433 453 N/A INTRINSIC
low complexity region 457 470 N/A INTRINSIC
low complexity region 651 663 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100206
AA Change: I110N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: I110N

DomainStartEndE-ValueType
LA 113 191 2.44e-40 SMART
RRM 196 266 3.28e-2 SMART
low complexity region 376 389 N/A INTRINSIC
low complexity region 434 454 N/A INTRINSIC
low complexity region 458 471 N/A INTRINSIC
low complexity region 652 664 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229891
Predicted Effect probably benign
Transcript: ENSMUST00000230521
Predicted Effect possibly damaging
Transcript: ENSMUST00000230956
AA Change: I111N

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000231160
AA Change: I51N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Akap17b A G X: 36,612,310 S515P probably damaging Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Cabcoco1 G T 10: 68,541,805 T18N possibly damaging Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Fbxo8 T A 8: 56,588,023 M158K probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Herc6 A G 6: 57,607,145 N330D probably benign Het
Kdf1 T C 4: 133,528,157 S62P probably damaging Het
Mfsd6l T A 11: 68,556,473 I50N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Urgcp C T 11: 5,716,448 R630Q possibly damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Wdr5 A G 2: 27,520,867 K162E probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Larp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:Larp4 APN 15 99987474 missense probably damaging 1.00
IGL01687:Larp4 APN 15 99996488 missense probably damaging 1.00
IGL02105:Larp4 APN 15 99986071 missense probably damaging 1.00
IGL02676:Larp4 APN 15 99990421 missense possibly damaging 0.94
IGL03286:Larp4 APN 15 99986086 missense probably damaging 1.00
R1076:Larp4 UTSW 15 99997430 missense probably benign 0.00
R1996:Larp4 UTSW 15 99984963 missense probably damaging 1.00
R2183:Larp4 UTSW 15 100011897 missense probably benign 0.16
R2260:Larp4 UTSW 15 99997396 missense possibly damaging 0.95
R3777:Larp4 UTSW 15 99990357 missense probably damaging 1.00
R3916:Larp4 UTSW 15 99990403 missense probably benign 0.00
R3962:Larp4 UTSW 15 100012145 missense probably damaging 1.00
R5059:Larp4 UTSW 15 100005290 missense probably damaging 1.00
R5081:Larp4 UTSW 15 99973017 intron probably benign
R5104:Larp4 UTSW 15 99986083 missense probably damaging 1.00
R5409:Larp4 UTSW 15 99986064 missense probably damaging 0.98
R5436:Larp4 UTSW 15 99986114 missense probably damaging 0.98
R6895:Larp4 UTSW 15 100007730 critical splice donor site probably null
R7316:Larp4 UTSW 15 100001017 missense probably benign
R7483:Larp4 UTSW 15 99991778 missense probably benign 0.01
Posted On2015-08-05