Incidental Mutation 'IGL01668:Larp4'
ID 103377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Larp4
Ensembl Gene ENSMUSG00000023025
Gene Name La ribonucleoprotein 4
Synonyms D330037H05Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.413) question?
Stock # IGL01668
Quality Score
Status
Chromosome 15
Chromosomal Location 99867946-99914239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99885355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 69 (S69P)
Ref Sequence ENSEMBL: ENSMUSP00000155661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057632] [ENSMUST00000100206] [ENSMUST00000230521] [ENSMUST00000230956] [ENSMUST00000231160]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057632
AA Change: S127P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: S127P

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 damaging
Transcript: ENSMUST00000100206
AA Change: S128P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: S128P

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 damaging
Transcript: ENSMUST00000230956
AA Change: S129P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000231160
AA Change: S69P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3d1 A G 10: 80,554,993 (GRCm39) V444A possibly damaging Het
Chd9 A T 8: 91,753,404 (GRCm39) H1799L possibly damaging Het
Cic C T 7: 24,990,629 (GRCm39) P1108S possibly damaging Het
Clba1 T C 12: 112,773,264 (GRCm39) S86P probably damaging Het
Cldn16 T A 16: 26,301,296 (GRCm39) Y201* probably null Het
Col6a6 C A 9: 105,586,470 (GRCm39) R1850S probably damaging Het
Cryge A G 1: 65,087,857 (GRCm39) Y151H probably damaging Het
Dhcr7 T A 7: 143,397,048 (GRCm39) V180D probably damaging Het
Dmwd C T 7: 18,815,080 (GRCm39) R577W probably damaging Het
Gm5884 A G 6: 128,622,377 (GRCm39) noncoding transcript Het
Gm5901 C T 7: 105,026,771 (GRCm39) R180C probably benign Het
Hook2 A T 8: 85,720,207 (GRCm39) Y131F possibly damaging Het
Hsf1 T C 15: 76,381,162 (GRCm39) probably null Het
Ighv1-62-3 A G 12: 115,424,613 (GRCm39) probably benign Het
Ikbke T G 1: 131,184,675 (GRCm39) D666A probably benign Het
Il1r1 C T 1: 40,352,489 (GRCm39) T556I probably benign Het
Lrrc27 G T 7: 138,807,827 (GRCm39) probably benign Het
Marchf2 A C 17: 33,922,070 (GRCm39) W97G probably damaging Het
Or4c10b C A 2: 89,711,443 (GRCm39) P91Q probably benign Het
Or5b21 A G 19: 12,839,231 (GRCm39) I31V probably benign Het
Or8k28 A G 2: 86,285,746 (GRCm39) Y290H probably damaging Het
Pah T A 10: 87,414,123 (GRCm39) I324N probably damaging Het
Pcdhb7 A G 18: 37,476,205 (GRCm39) E447G probably benign Het
Prex2 T C 1: 11,223,869 (GRCm39) V731A probably benign Het
Prpsap2 A G 11: 61,646,277 (GRCm39) V44A probably benign Het
Rp1 T C 1: 4,415,941 (GRCm39) N1724D probably damaging Het
Sap130 A G 18: 31,813,493 (GRCm39) N517D probably damaging Het
Slc13a3 A C 2: 165,272,212 (GRCm39) F277C probably damaging Het
Snx19 A G 9: 30,339,119 (GRCm39) T86A probably benign Het
Tbc1d32 A T 10: 55,999,673 (GRCm39) V833D probably benign Het
Washc2 A G 6: 116,239,299 (GRCm39) D1290G probably damaging Het
Wdr87-ps G A 7: 29,236,855 (GRCm39) noncoding transcript Het
Other mutations in Larp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Larp4 APN 15 99,885,302 (GRCm39) missense probably damaging 0.98
IGL01687:Larp4 APN 15 99,894,369 (GRCm39) missense probably damaging 1.00
IGL02105:Larp4 APN 15 99,883,952 (GRCm39) missense probably damaging 1.00
IGL02676:Larp4 APN 15 99,888,302 (GRCm39) missense possibly damaging 0.94
IGL03286:Larp4 APN 15 99,883,967 (GRCm39) missense probably damaging 1.00
Skewer UTSW 15 99,905,611 (GRCm39) critical splice donor site probably null
R1076:Larp4 UTSW 15 99,895,311 (GRCm39) missense probably benign 0.00
R1996:Larp4 UTSW 15 99,882,844 (GRCm39) missense probably damaging 1.00
R2183:Larp4 UTSW 15 99,909,778 (GRCm39) missense probably benign 0.16
R2260:Larp4 UTSW 15 99,895,277 (GRCm39) missense possibly damaging 0.95
R3777:Larp4 UTSW 15 99,888,238 (GRCm39) missense probably damaging 1.00
R3916:Larp4 UTSW 15 99,888,284 (GRCm39) missense probably benign 0.00
R3962:Larp4 UTSW 15 99,910,026 (GRCm39) missense probably damaging 1.00
R5059:Larp4 UTSW 15 99,903,171 (GRCm39) missense probably damaging 1.00
R5081:Larp4 UTSW 15 99,870,898 (GRCm39) intron probably benign
R5104:Larp4 UTSW 15 99,883,964 (GRCm39) missense probably damaging 1.00
R5409:Larp4 UTSW 15 99,883,945 (GRCm39) missense probably damaging 0.98
R5436:Larp4 UTSW 15 99,883,995 (GRCm39) missense probably damaging 0.98
R6895:Larp4 UTSW 15 99,905,611 (GRCm39) critical splice donor site probably null
R7316:Larp4 UTSW 15 99,898,898 (GRCm39) missense probably benign
R7483:Larp4 UTSW 15 99,889,659 (GRCm39) missense probably benign 0.01
R7510:Larp4 UTSW 15 99,891,258 (GRCm39) missense probably benign 0.07
R8131:Larp4 UTSW 15 99,892,570 (GRCm39) missense probably damaging 0.99
R8263:Larp4 UTSW 15 99,883,961 (GRCm39) missense probably benign 0.00
R8322:Larp4 UTSW 15 99,908,237 (GRCm39) missense probably benign 0.01
R8671:Larp4 UTSW 15 99,908,339 (GRCm39) missense probably benign 0.01
R9059:Larp4 UTSW 15 99,889,693 (GRCm39) missense probably benign 0.26
R9151:Larp4 UTSW 15 99,888,205 (GRCm39) missense possibly damaging 0.88
R9444:Larp4 UTSW 15 99,909,807 (GRCm39) missense probably benign 0.00
Posted On 2014-01-21