Incidental Mutation 'IGL01636:Larp1b'
ID 93018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Larp1b
Ensembl Gene ENSMUSG00000025762
Gene Name La ribonucleoprotein 1B
Synonyms 4933421B21Rik, Larp2, 1700108L22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01636
Quality Score
Status
Chromosome 3
Chromosomal Location 40904263-40994669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40924913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 177 (R177L)
Ref Sequence ENSEMBL: ENSMUSP00000141487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048490] [ENSMUST00000191805] [ENSMUST00000191872]
AlphaFold F6U5V1
Predicted Effect probably benign
Transcript: ENSMUST00000048490
AA Change: R177L

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037127
Gene: ENSMUSG00000025762
AA Change: R177L

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
low complexity region 122 133 N/A INTRINSIC
low complexity region 138 164 N/A INTRINSIC
LA 213 291 4.35e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191805
AA Change: R177L

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141487
Gene: ENSMUSG00000025762
AA Change: R177L

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
low complexity region 122 133 N/A INTRINSIC
low complexity region 138 164 N/A INTRINSIC
LA 213 291 4.35e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191872
AA Change: R130L

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142106
Gene: ENSMUSG00000025762
AA Change: R130L

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
low complexity region 70 86 N/A INTRINSIC
low complexity region 91 117 N/A INTRINSIC
LA 166 244 4.35e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191998
Predicted Effect unknown
Transcript: ENSMUST00000193795
AA Change: R158L
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Adgrd1 G T 5: 129,219,516 (GRCm39) probably benign Het
Bmp7 T C 2: 172,717,001 (GRCm39) probably benign Het
Ccdc54 A G 16: 50,410,277 (GRCm39) *330Q probably null Het
Chd5 A T 4: 152,469,110 (GRCm39) K1812* probably null Het
Cnga3 T A 1: 37,299,874 (GRCm39) I236N possibly damaging Het
Ddost T G 4: 138,036,707 (GRCm39) D135E possibly damaging Het
Dicer1 T C 12: 104,688,500 (GRCm39) D359G probably damaging Het
Dnah17 A C 11: 117,931,882 (GRCm39) S3697A probably benign Het
Dnttip2 G A 3: 122,076,123 (GRCm39) G685D possibly damaging Het
Dst T G 1: 34,254,650 (GRCm39) S4552R probably damaging Het
Ebf2 G A 14: 67,476,927 (GRCm39) E157K probably damaging Het
Ehbp1 C T 11: 22,039,584 (GRCm39) V839M probably benign Het
Ehmt1 G T 2: 24,729,620 (GRCm39) T639K probably damaging Het
Esyt2 T C 12: 116,329,550 (GRCm39) probably null Het
Etv6 T C 6: 134,225,350 (GRCm39) S194P probably benign Het
Fam184b T C 5: 45,741,637 (GRCm39) H198R probably benign Het
Fam210b T C 2: 172,193,460 (GRCm39) F91S probably damaging Het
Fam81a G A 9: 70,006,434 (GRCm39) Q193* probably null Het
Fto A G 8: 92,135,969 (GRCm39) D79G probably damaging Het
Haspin C T 11: 73,028,231 (GRCm39) R286H possibly damaging Het
Hmcn1 C T 1: 150,455,984 (GRCm39) C5312Y probably damaging Het
Ik T A 18: 36,884,254 (GRCm39) D245E possibly damaging Het
Itga1 A G 13: 115,143,484 (GRCm39) V349A possibly damaging Het
Kdm8 T C 7: 125,060,377 (GRCm39) V400A probably damaging Het
Lifr T G 15: 7,208,499 (GRCm39) probably benign Het
Lrrn2 T C 1: 132,864,959 (GRCm39) L8P possibly damaging Het
Marcksl1 T A 4: 129,408,587 (GRCm39) D55E probably benign Het
Med12 C A X: 100,318,795 (GRCm39) S74R probably damaging Het
Mtarc2 T C 1: 184,564,838 (GRCm39) K231E probably benign Het
Or52s1 C A 7: 102,861,384 (GRCm39) R95S probably benign Het
Or6c35 A T 10: 129,168,752 (GRCm39) M1L probably damaging Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or8k39 G A 2: 86,563,945 (GRCm39) Q4* probably null Het
Orc3 A C 4: 34,595,096 (GRCm39) L233R probably damaging Het
Pik3cd A G 4: 149,738,772 (GRCm39) M715T possibly damaging Het
Prss43 T A 9: 110,656,505 (GRCm39) L64Q possibly damaging Het
Pyroxd2 C A 19: 42,726,771 (GRCm39) G209V probably benign Het
Rab3b A G 4: 108,797,916 (GRCm39) D198G possibly damaging Het
Rrbp1 A T 2: 143,789,815 (GRCm39) probably benign Het
Smg6 T C 11: 74,825,929 (GRCm39) probably null Het
Ssrp1 T C 2: 84,871,443 (GRCm39) probably benign Het
Strip2 C A 6: 29,931,192 (GRCm39) T381K probably benign Het
Svep1 A T 4: 58,116,622 (GRCm39) L876Q possibly damaging Het
Tle4 T C 19: 14,429,897 (GRCm39) I625V probably damaging Het
Tnfrsf23 T C 7: 143,233,736 (GRCm39) T81A probably damaging Het
Ttc41 A G 10: 86,612,542 (GRCm39) K1272E probably benign Het
Usp3 A G 9: 66,469,834 (GRCm39) probably null Het
Vmn1r121 C T 7: 20,832,282 (GRCm39) V53M probably benign Het
Vmn1r65 A T 7: 6,011,720 (GRCm39) S171R probably benign Het
Vmn2r4 A T 3: 64,313,657 (GRCm39) D441E probably benign Het
Vps13d A T 4: 144,801,618 (GRCm39) H2353Q probably damaging Het
Vwa8 T C 14: 79,435,794 (GRCm39) S1835P possibly damaging Het
Other mutations in Larp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Larp1b APN 3 40,987,875 (GRCm39) nonsense probably null
IGL01845:Larp1b APN 3 40,924,960 (GRCm39) missense probably benign 0.03
IGL02192:Larp1b APN 3 40,921,929 (GRCm39) missense probably benign 0.01
IGL03372:Larp1b APN 3 40,978,962 (GRCm39) missense possibly damaging 0.79
R0396:Larp1b UTSW 3 40,924,996 (GRCm39) missense probably damaging 1.00
R0512:Larp1b UTSW 3 40,924,469 (GRCm39) missense probably benign 0.00
R0975:Larp1b UTSW 3 40,924,925 (GRCm39) missense probably damaging 0.99
R1119:Larp1b UTSW 3 40,987,963 (GRCm39) missense possibly damaging 0.87
R1337:Larp1b UTSW 3 40,987,837 (GRCm39) missense probably damaging 1.00
R1460:Larp1b UTSW 3 40,916,653 (GRCm39) missense probably benign
R1565:Larp1b UTSW 3 40,926,819 (GRCm39) missense probably damaging 1.00
R1589:Larp1b UTSW 3 40,987,909 (GRCm39) missense probably damaging 1.00
R1640:Larp1b UTSW 3 40,988,507 (GRCm39) start codon destroyed probably null 0.04
R1899:Larp1b UTSW 3 40,918,519 (GRCm39) missense probably benign 0.04
R2133:Larp1b UTSW 3 40,924,970 (GRCm39) missense possibly damaging 0.69
R3054:Larp1b UTSW 3 40,918,535 (GRCm39) missense probably benign 0.10
R4621:Larp1b UTSW 3 40,918,424 (GRCm39) missense possibly damaging 0.71
R4818:Larp1b UTSW 3 40,925,005 (GRCm39) missense probably damaging 1.00
R5023:Larp1b UTSW 3 40,988,420 (GRCm39) missense possibly damaging 0.88
R5166:Larp1b UTSW 3 40,918,487 (GRCm39) nonsense probably null
R5357:Larp1b UTSW 3 40,978,950 (GRCm39) missense probably benign 0.04
R5364:Larp1b UTSW 3 40,931,658 (GRCm39) missense probably damaging 0.99
R5492:Larp1b UTSW 3 40,924,334 (GRCm39) missense probably damaging 0.99
R5495:Larp1b UTSW 3 40,990,257 (GRCm39) missense probably damaging 1.00
R7070:Larp1b UTSW 3 40,931,086 (GRCm39) missense probably damaging 1.00
R7293:Larp1b UTSW 3 40,939,879 (GRCm39) missense
R7615:Larp1b UTSW 3 40,990,251 (GRCm39) missense probably benign 0.01
R7615:Larp1b UTSW 3 40,987,969 (GRCm39) missense possibly damaging 0.79
R7717:Larp1b UTSW 3 40,926,879 (GRCm39) missense probably damaging 0.97
R8060:Larp1b UTSW 3 40,939,837 (GRCm39) missense
R8282:Larp1b UTSW 3 40,991,245 (GRCm39) missense probably damaging 0.99
R8429:Larp1b UTSW 3 40,931,662 (GRCm39) makesense probably null
R8458:Larp1b UTSW 3 40,930,995 (GRCm39) missense probably benign 0.00
R9189:Larp1b UTSW 3 40,925,039 (GRCm39) missense probably damaging 1.00
R9468:Larp1b UTSW 3 40,930,990 (GRCm39) missense probably benign 0.00
R9628:Larp1b UTSW 3 40,916,103 (GRCm39) critical splice donor site probably null
X0021:Larp1b UTSW 3 40,921,929 (GRCm39) missense probably benign
Posted On 2013-12-09