Incidental Mutation 'IGL02105:Larp4'
ID279954
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 #IGL02105
Quality Score
Status
Chromosome15
Chromosomal Location99970065-100016358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99986071 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 63 (E63G)
Ref Sequence ENSEMBL: ENSMUSP00000155529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057632] [ENSMUST00000100206] [ENSMUST00000230521] [ENSMUST00000230956] [ENSMUST00000231160]
Predicted Effect probably benign
Transcript: ENSMUST00000057632
AA Change: E62G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: E62G

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: E63G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: E63G

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 damaging
Transcript: ENSMUST00000230521
AA Change: E63G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230956
AA Change: E64G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231160
AA Change: E4G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G T 3: 95,680,064 P734H probably damaging Het
Arfip2 A T 7: 105,639,383 I14N probably damaging Het
Asap3 G T 4: 136,228,474 probably null Het
Atg2a T A 19: 6,250,403 probably benign Het
Bbs12 T C 3: 37,320,147 L248P probably damaging Het
Brd3 A T 2: 27,459,776 I255N probably damaging Het
Ccdc141 A G 2: 77,049,577 probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd9 T A 8: 90,932,488 D25E probably damaging Het
Cobl T C 11: 12,249,651 K1325R probably damaging Het
Dnmt1 T A 9: 20,907,882 E1486V unknown Het
Dock2 T C 11: 34,714,525 N256D probably damaging Het
Dpp3 G A 19: 4,916,771 S408L probably damaging Het
Dync2h1 C T 9: 7,075,892 G2992R probably damaging Het
Eef1a1 T C 9: 78,480,551 D35G probably benign Het
Fntb A G 12: 76,862,489 K84E probably benign Het
Gfi1 A G 5: 107,723,722 probably null Het
Glb1l3 T A 9: 26,818,527 I516F probably damaging Het
Hltf A G 3: 20,092,757 N560S probably damaging Het
Kif21b A G 1: 136,171,303 N1443S probably benign Het
Knl1 T A 2: 119,071,808 I1330K probably benign Het
Krt20 C T 11: 99,438,001 V33M probably benign Het
Lao1 A G 4: 118,968,443 T487A probably damaging Het
Lrp1 A G 10: 127,544,579 V3901A probably damaging Het
Lrrc17 A G 5: 21,570,257 I272M probably benign Het
Malrd1 A T 2: 16,127,863 Q1865L unknown Het
Mtg1 T C 7: 140,150,206 L305P probably damaging Het
Mylk4 T A 13: 32,720,562 E427D probably benign Het
Myom1 G T 17: 71,047,716 probably benign Het
Nbeal1 A G 1: 60,253,501 E1104G probably damaging Het
Obox5 A G 7: 15,758,575 M152V probably benign Het
Olfm2 C T 9: 20,672,180 V203M probably damaging Het
Olfr166 T G 16: 19,487,261 L141R probably benign Het
Olfr876 A T 9: 37,804,595 H228L possibly damaging Het
Pf4 A G 5: 90,773,255 S105G probably damaging Het
Phlpp2 T A 8: 109,904,408 I228N probably damaging Het
Sall1 T G 8: 89,032,568 S303R probably damaging Het
Setd5 A G 6: 113,117,580 E486G probably damaging Het
Slc9a5 C T 8: 105,349,443 P23S probably damaging Het
Tbc1d9b T A 11: 50,149,826 I390N probably damaging Het
Trp53 T C 11: 69,588,503 V169A probably damaging Het
Usp4 A G 9: 108,384,932 D791G probably damaging Het
Vmn1r76 A G 7: 11,930,490 S266P possibly damaging Het
Vmn2r27 A G 6: 124,197,349 probably benign Het
Xirp1 C T 9: 120,016,997 G940E probably damaging Het
Zfp407 A T 18: 84,562,720 C89* probably null Het
Other mutations in Larp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Larp4 APN 15 99987421 missense probably damaging 0.98
IGL01668:Larp4 APN 15 99987474 missense probably damaging 1.00
IGL01687:Larp4 APN 15 99996488 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
R7510:Larp4 UTSW 15 99993377 missense probably benign 0.07
Posted On2015-04-16