Incidental Mutation 'IGL02114:Larp1'
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ID280298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Larp1
Ensembl Gene ENSMUSG00000037331
Gene NameLa ribonucleoprotein domain family, member 1
Synonyms1810024J12Rik, 3110040D16Rik, Larp
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02114
Quality Score
Status
Chromosome11
Chromosomal Location58009064-58062034 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58057055 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 926 (Y926H)
Ref Sequence ENSEMBL: ENSMUSP00000136673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071487] [ENSMUST00000178636]
Predicted Effect probably damaging
Transcript: ENSMUST00000071487
AA Change: Y926H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071421
Gene: ENSMUSG00000037331
AA Change: Y926H

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 37 87 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 304 331 N/A INTRINSIC
LA 376 452 1.98e-40 SMART
low complexity region 538 555 N/A INTRINSIC
low complexity region 562 571 N/A INTRINSIC
low complexity region 575 589 N/A INTRINSIC
low complexity region 758 766 N/A INTRINSIC
DM15 861 902 7.3e-20 SMART
DM15 903 941 3.85e-19 SMART
DM15 942 977 8.59e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178636
AA Change: Y926H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136673
Gene: ENSMUSG00000037331
AA Change: Y926H

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 37 87 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
low complexity region 304 331 N/A INTRINSIC
LA 376 452 1.98e-40 SMART
low complexity region 538 555 N/A INTRINSIC
low complexity region 562 571 N/A INTRINSIC
low complexity region 575 589 N/A INTRINSIC
low complexity region 758 766 N/A INTRINSIC
DM15 861 902 7.3e-20 SMART
DM15 903 941 3.85e-19 SMART
DM15 942 977 8.59e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Larp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Larp1 APN 11 58042822 missense possibly damaging 0.91
IGL03084:Larp1 APN 11 58057095 missense probably damaging 1.00
IGL03126:Larp1 APN 11 58050877 missense possibly damaging 0.65
IGL03278:Larp1 APN 11 58044056 splice site probably benign
Bayou UTSW 11 58058596 frame shift probably null
R0009:Larp1 UTSW 11 58055473 missense possibly damaging 0.94
R0020:Larp1 UTSW 11 58050023 missense probably damaging 1.00
R0479:Larp1 UTSW 11 58042820 missense possibly damaging 0.92
R0845:Larp1 UTSW 11 58047750 missense probably benign 0.00
R1691:Larp1 UTSW 11 58048048 missense probably benign 0.08
R1793:Larp1 UTSW 11 58049938 missense possibly damaging 0.60
R3618:Larp1 UTSW 11 58057346 missense probably benign 0.03
R4689:Larp1 UTSW 11 58041613 missense probably damaging 1.00
R4797:Larp1 UTSW 11 58047980 nonsense probably null
R5089:Larp1 UTSW 11 58047867 missense possibly damaging 0.92
R5309:Larp1 UTSW 11 58050808 missense possibly damaging 0.72
R5883:Larp1 UTSW 11 58042299 missense probably damaging 0.97
R5951:Larp1 UTSW 11 58049939 missense probably benign 0.14
R6038:Larp1 UTSW 11 58041605 missense possibly damaging 0.68
R6038:Larp1 UTSW 11 58041605 missense possibly damaging 0.68
R6266:Larp1 UTSW 11 58042263 missense probably damaging 0.99
R6350:Larp1 UTSW 11 58049831 missense probably benign 0.14
R6650:Larp1 UTSW 11 58058596 frame shift probably null
R6687:Larp1 UTSW 11 58057330 missense probably damaging 0.99
R6736:Larp1 UTSW 11 58042647 splice site probably null
R6881:Larp1 UTSW 11 58050023 missense probably damaging 1.00
R7368:Larp1 UTSW 11 58048078 missense probably damaging 1.00
R7547:Larp1 UTSW 11 58052579 critical splice acceptor site probably null
R7838:Larp1 UTSW 11 58047714 missense possibly damaging 0.82
R7921:Larp1 UTSW 11 58047714 missense possibly damaging 0.82
Z1177:Larp1 UTSW 11 58049787 nonsense probably null
Posted On2015-04-16