Incidental Mutation 'IGL02676:Larp4'
ID303137
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: 0.285) question?
Stock #IGL02676
Quality Score
Status
Chromosome15
Chromosomal Location99970065-100016358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99990421 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 113 (V113A)
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: V171A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: V171A

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 possibly damaging
Transcript: ENSMUST00000100206
AA Change: V172A

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: V172A

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 probably benign
Transcript: ENSMUST00000230956
AA Change: V173A

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231160
AA Change: V113A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G A 18: 34,315,634 S1827N probably damaging Het
Atrnl1 T A 19: 57,691,884 C739S probably damaging Het
Cep350 T C 1: 155,862,231 E2622G possibly damaging Het
Chd5 C T 4: 152,356,073 probably benign Het
Chst11 T A 10: 83,191,729 L330Q probably damaging Het
Clcnka A T 4: 141,392,783 V275E probably damaging Het
Clip4 G A 17: 71,828,621 S456N probably damaging Het
Cmya5 A T 13: 93,092,853 I1909N probably damaging Het
Cyp26b1 A G 6: 84,576,644 I176T probably damaging Het
Dst A G 1: 34,307,587 R7717G probably damaging Het
Eml2 C T 7: 19,184,921 R99* probably null Het
Fibin T C 2: 110,362,584 Q71R probably benign Het
Fsip2 T G 2: 82,982,157 I2940S possibly damaging Het
Gabrb3 G T 7: 57,591,364 probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Gm13083 T C 4: 143,616,097 F258S possibly damaging Het
Gm6205 A G 5: 94,683,871 T246A possibly damaging Het
Gm6483 C T 8: 19,693,659 noncoding transcript Het
Hdgfl1 G A 13: 26,769,365 R242C possibly damaging Het
Hmcn1 T C 1: 150,619,009 T4110A probably benign Het
Lama2 T G 10: 27,118,493 M1807L probably benign Het
Mkx T C 18: 7,000,640 T101A probably benign Het
Nfe2l1 A G 11: 96,827,665 F15L probably damaging Het
Nif3l1 G A 1: 58,455,736 probably null Het
Nop14 A G 5: 34,639,221 V764A probably damaging Het
Nosip C A 7: 45,077,328 A259E probably damaging Het
Ntn5 T C 7: 45,691,876 probably benign Het
Olfr1016 T C 2: 85,799,590 I227V possibly damaging Het
Phospho1 G A 11: 95,830,888 G128D probably damaging Het
Ppp4r3a G A 12: 101,042,511 T703M probably benign Het
Prdm8 G A 5: 98,186,559 E662K probably damaging Het
Ralgapa1 A G 12: 55,676,417 S1775P probably damaging Het
Rapgef6 T C 11: 54,649,346 probably benign Het
Rasef T C 4: 73,759,729 T87A possibly damaging Het
Scrn3 A G 2: 73,329,871 Q286R probably benign Het
Sema3d A T 5: 12,570,978 Q517L probably benign Het
Slc9a3r2 A T 17: 24,641,956 V204E probably damaging Het
Taf6l T C 19: 8,775,049 Y425C probably damaging Het
Tbk1 T C 10: 121,568,080 N254S possibly damaging Het
Tcf3 C T 10: 80,421,091 G64R probably damaging Het
Tmco4 T C 4: 139,023,069 probably null Het
Trappc11 A G 8: 47,493,413 probably benign Het
Vmn1r19 A T 6: 57,405,040 I193F possibly damaging Het
Vmn2r14 G A 5: 109,220,016 T370I probably benign Het
Vmn2r65 T A 7: 84,940,173 H845L possibly damaging Het
Vmn2r98 A T 17: 19,065,259 T114S probably benign Het
Zfp280d A T 9: 72,335,074 R661S probably damaging Het
Zranb1 T C 7: 132,966,681 I356T probably benign 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
IGL02105:Larp4 APN 15 99986071 missense probably damaging 1.00
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
Posted On2015-04-16