Incidental Mutation 'IGL02519:Larp4b'
ID 296898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Larp4b
Ensembl Gene ENSMUSG00000033499
Gene Name La ribonucleoprotein 4B
Synonyms Larp5, D13Wsu64e
Accession Numbers
Essential gene? Probably essential (E-score: 0.762) question?
Stock # IGL02519
Quality Score
Status
Chromosome 13
Chromosomal Location 9143917-9224487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9208616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 423 (A423E)
Ref Sequence ENSEMBL: ENSMUSP00000139578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091829] [ENSMUST00000188211] [ENSMUST00000188939]
AlphaFold Q6A0A2
Predicted Effect probably benign
Transcript: ENSMUST00000091829
SMART Domains Protein: ENSMUSP00000089437
Gene: ENSMUSG00000033499

DomainStartEndE-ValueType
LA 156 234 3.25e-36 SMART
RRM 239 309 6.25e-2 SMART
low complexity region 510 529 N/A INTRINSIC
low complexity region 586 597 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188211
AA Change: A423E

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140993
Gene: ENSMUSG00000033499
AA Change: A423E

DomainStartEndE-ValueType
LA 156 234 3.25e-36 SMART
RRM 239 309 6.25e-2 SMART
low complexity region 510 529 N/A INTRINSIC
low complexity region 586 597 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188939
AA Change: A423E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000139578
Gene: ENSMUSG00000033499
AA Change: A423E

DomainStartEndE-ValueType
LA 156 234 3.25e-36 SMART
RRM 239 309 6.25e-2 SMART
low complexity region 510 529 N/A INTRINSIC
Meta Mutation Damage Score 0.0878 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,868,687 (GRCm39) I224F probably damaging Het
Adamts17 A G 7: 66,774,721 (GRCm39) T947A possibly damaging Het
Ankfn1 T C 11: 89,296,504 (GRCm39) E75G probably benign Het
Arfgef1 G T 1: 10,279,893 (GRCm39) H225N probably benign Het
Arsi A G 18: 61,050,139 (GRCm39) S341G probably damaging Het
Aspm T A 1: 139,389,665 (GRCm39) probably benign Het
Bltp1 A G 3: 36,949,464 (GRCm39) E370G probably damaging Het
Cacna1i C T 15: 80,246,075 (GRCm39) R490* probably null Het
Cd33 C T 7: 43,178,153 (GRCm39) probably benign Het
Clmn T C 12: 104,758,112 (GRCm39) I135V probably damaging Het
Crebbp A T 16: 3,919,457 (GRCm39) N795K possibly damaging Het
Dhps A G 8: 85,799,928 (GRCm39) D126G probably damaging Het
Dlg2 G T 7: 91,589,323 (GRCm39) V196L possibly damaging Het
Dsg1c T A 18: 20,416,790 (GRCm39) I897N probably damaging Het
Dzip3 A G 16: 48,748,759 (GRCm39) L1059S probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Fgf17 A G 14: 70,875,968 (GRCm39) I88T probably damaging Het
G3bp2 A G 5: 92,214,383 (GRCm39) V137A possibly damaging Het
Gnal G A 18: 67,221,836 (GRCm39) E80K unknown Het
Hectd1 T G 12: 51,815,894 (GRCm39) S1393R probably damaging Het
Igsf6 T C 7: 120,667,496 (GRCm39) I173M possibly damaging Het
Il2ra A C 2: 11,687,901 (GRCm39) E227A possibly damaging Het
Iqcf6 C T 9: 106,504,479 (GRCm39) R48C probably damaging Het
Kdm3a G T 6: 71,588,570 (GRCm39) Q480K probably benign Het
Magea6 T C X: 153,707,741 (GRCm39) D105G probably benign Het
Nop53 C A 7: 15,673,197 (GRCm39) probably benign Het
Or14a260 A T 7: 85,984,789 (GRCm39) F272I probably benign Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Pgghg A G 7: 140,524,894 (GRCm39) T352A possibly damaging Het
Setd2 T C 9: 110,382,184 (GRCm39) S1464P probably damaging Het
Sspo C A 6: 48,461,762 (GRCm39) T3609N probably damaging Het
Sulf1 T A 1: 12,908,587 (GRCm39) Y533* probably null Het
Thsd7b A G 1: 129,540,932 (GRCm39) S346G probably benign Het
Tmem161b T A 13: 84,442,863 (GRCm39) L261Q probably damaging Het
Tmem63b T A 17: 45,976,134 (GRCm39) T493S possibly damaging Het
Tmprss11d A T 5: 86,454,164 (GRCm39) C214S probably damaging Het
Trim16 A T 11: 62,724,905 (GRCm39) E144V possibly damaging Het
Unc13d T C 11: 115,961,359 (GRCm39) Y356C probably damaging Het
Urgcp A T 11: 5,667,745 (GRCm39) F198I probably benign Het
Vmn2r111 T C 17: 22,767,320 (GRCm39) I726V possibly damaging Het
Zzz3 A T 3: 152,133,027 (GRCm39) E28D probably damaging Het
Other mutations in Larp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01746:Larp4b APN 13 9,208,160 (GRCm39) missense probably damaging 0.99
IGL02609:Larp4b APN 13 9,220,716 (GRCm39) missense probably damaging 1.00
R0116:Larp4b UTSW 13 9,220,724 (GRCm39) missense probably damaging 1.00
R0390:Larp4b UTSW 13 9,208,143 (GRCm39) splice site probably null
R0585:Larp4b UTSW 13 9,220,737 (GRCm39) missense probably benign 0.08
R0585:Larp4b UTSW 13 9,197,529 (GRCm39) missense probably damaging 1.00
R0751:Larp4b UTSW 13 9,216,345 (GRCm39) splice site probably benign
R1184:Larp4b UTSW 13 9,216,345 (GRCm39) splice site probably benign
R1202:Larp4b UTSW 13 9,216,362 (GRCm39) missense possibly damaging 0.84
R1525:Larp4b UTSW 13 9,195,486 (GRCm39) missense probably damaging 1.00
R1599:Larp4b UTSW 13 9,172,186 (GRCm39) missense probably damaging 1.00
R1637:Larp4b UTSW 13 9,201,133 (GRCm39) missense probably benign 0.12
R1833:Larp4b UTSW 13 9,201,235 (GRCm39) missense possibly damaging 0.89
R1852:Larp4b UTSW 13 9,187,339 (GRCm39) critical splice donor site probably null
R1962:Larp4b UTSW 13 9,186,878 (GRCm39) missense probably benign
R2359:Larp4b UTSW 13 9,208,199 (GRCm39) missense probably damaging 0.97
R2973:Larp4b UTSW 13 9,216,347 (GRCm39) splice site probably benign
R3803:Larp4b UTSW 13 9,208,590 (GRCm39) missense probably benign 0.03
R4810:Larp4b UTSW 13 9,208,627 (GRCm39) missense probably benign
R4828:Larp4b UTSW 13 9,220,934 (GRCm39) missense probably damaging 1.00
R5135:Larp4b UTSW 13 9,220,773 (GRCm39) missense probably damaging 1.00
R5250:Larp4b UTSW 13 9,221,013 (GRCm39) utr 3 prime probably benign
R5259:Larp4b UTSW 13 9,208,220 (GRCm39) missense probably damaging 0.98
R5379:Larp4b UTSW 13 9,186,945 (GRCm39) missense probably benign 0.17
R5436:Larp4b UTSW 13 9,218,936 (GRCm39) missense possibly damaging 0.93
R5616:Larp4b UTSW 13 9,208,695 (GRCm39) missense probably damaging 0.98
R5774:Larp4b UTSW 13 9,220,679 (GRCm39) splice site probably null
R5818:Larp4b UTSW 13 9,208,596 (GRCm39) missense probably benign
R6007:Larp4b UTSW 13 9,218,793 (GRCm39) missense probably benign 0.13
R6248:Larp4b UTSW 13 9,208,738 (GRCm39) missense probably benign 0.01
R6452:Larp4b UTSW 13 9,197,503 (GRCm39) missense probably damaging 0.98
R6501:Larp4b UTSW 13 9,218,829 (GRCm39) missense probably damaging 1.00
R7324:Larp4b UTSW 13 9,208,616 (GRCm39) missense probably benign 0.04
R7689:Larp4b UTSW 13 9,186,834 (GRCm39) missense probably damaging 1.00
R7737:Larp4b UTSW 13 9,220,679 (GRCm39) splice site probably null
R7955:Larp4b UTSW 13 9,186,816 (GRCm39) missense probably benign 0.00
R8877:Larp4b UTSW 13 9,193,835 (GRCm39) missense probably benign 0.04
R8975:Larp4b UTSW 13 9,195,537 (GRCm39) missense probably damaging 1.00
R9147:Larp4b UTSW 13 9,186,819 (GRCm39) missense possibly damaging 0.51
R9191:Larp4b UTSW 13 9,220,830 (GRCm39) missense probably benign 0.32
R9361:Larp4b UTSW 13 9,199,937 (GRCm39) missense probably damaging 1.00
RF017:Larp4b UTSW 13 9,173,946 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16