Incidental Mutation 'IGL01668:Larp4'
ID103377
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: 0.420) question?
Stock #IGL01668
Quality Score
Status
Chromosome15
Chromosomal Location99970065-100016358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99987474 bp
ZygosityHeterozygous
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]
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
4932431P20Rik G A 7: 29,537,430 noncoding transcript Het
Ap3d1 A G 10: 80,719,159 V444A possibly damaging Het
BC022687 T C 12: 112,809,644 S86P probably damaging Het
Chd9 A T 8: 91,026,776 H1799L possibly damaging Het
Cic C T 7: 25,291,204 P1108S possibly damaging Het
Cldn16 T A 16: 26,482,546 Y201* probably null Het
Col6a6 C A 9: 105,709,271 R1850S probably damaging Het
Cryge A G 1: 65,048,698 Y151H probably damaging Het
Dhcr7 T A 7: 143,843,311 V180D probably damaging Het
Dmwd C T 7: 19,081,155 R577W probably damaging Het
Gm5884 A G 6: 128,645,414 noncoding transcript Het
Gm5901 C T 7: 105,377,564 R180C probably benign Het
Hook2 A T 8: 84,993,578 Y131F possibly damaging Het
Hsf1 T C 15: 76,496,962 probably null Het
Ighv1-62-3 A G 12: 115,460,993 probably benign Het
Ikbke T G 1: 131,256,938 D666A probably benign Het
Il1r1 C T 1: 40,313,329 T556I probably benign Het
Lrrc27 G T 7: 139,227,911 probably benign Het
March2 A C 17: 33,703,096 W97G probably damaging Het
Olfr1066 A G 2: 86,455,402 Y290H probably damaging Het
Olfr1257 C A 2: 89,881,099 P91Q probably benign Het
Olfr1444 A G 19: 12,861,867 I31V probably benign Het
Pah T A 10: 87,578,261 I324N probably damaging Het
Pcdhb7 A G 18: 37,343,152 E447G probably benign Het
Prex2 T C 1: 11,153,645 V731A probably benign Het
Prpsap2 A G 11: 61,755,451 V44A probably benign Het
Rp1 T C 1: 4,345,718 N1724D probably damaging Het
Sap130 A G 18: 31,680,440 N517D probably damaging Het
Slc13a3 A C 2: 165,430,292 F277C probably damaging Het
Snx19 A G 9: 30,427,823 T86A probably benign Het
Tbc1d32 A T 10: 56,123,577 V833D probably benign Het
Washc2 A G 6: 116,262,338 D1290G probably damaging Het
Other mutations in Larp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Larp4 APN 15 99987421 missense probably damaging 0.98
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
Skewer UTSW 15 100007730 critical splice donor site probably null
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
R8131:Larp4 UTSW 15 99994689 missense probably damaging 0.99
R8263:Larp4 UTSW 15 99986080 missense probably benign 0.00
R8322:Larp4 UTSW 15 100010356 missense probably benign 0.01
Posted On2014-01-21