Incidental Mutation 'R5639:Lsm14a'
ID 440542
Institutional Source Beutler Lab
Gene Symbol Lsm14a
Ensembl Gene ENSMUSG00000066568
Gene Name LSM14A mRNA processing body assembly factor
Synonyms 2700023B17Rik, Tral
MMRRC Submission 043288-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R5639 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 34043569-34089134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34052935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 338 (D338G)
Ref Sequence ENSEMBL: ENSMUSP00000082723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085585] [ENSMUST00000133046] [ENSMUST00000155256] [ENSMUST00000206388]
AlphaFold Q8K2F8
Predicted Effect probably damaging
Transcript: ENSMUST00000085585
AA Change: D338G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082723
Gene: ENSMUSG00000066568
AA Change: D338G

DomainStartEndE-ValueType
LSM14 1 98 1.15e-57 SMART
low complexity region 129 140 N/A INTRINSIC
low complexity region 268 287 N/A INTRINSIC
FDF 289 399 6.14e-35 SMART
low complexity region 403 428 N/A INTRINSIC
low complexity region 434 450 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133046
SMART Domains Protein: ENSMUSP00000119461
Gene: ENSMUSG00000066568

DomainStartEndE-ValueType
LSM14 1 62 1.33e-12 SMART
low complexity region 93 104 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000155256
AA Change: D279G
SMART Domains Protein: ENSMUSP00000118766
Gene: ENSMUSG00000066568
AA Change: D279G

DomainStartEndE-ValueType
LSM14 1 98 1.15e-57 SMART
low complexity region 129 140 N/A INTRINSIC
low complexity region 209 228 N/A INTRINSIC
Pfam:FDF 230 287 7.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205455
Predicted Effect probably benign
Transcript: ENSMUST00000205519
Predicted Effect probably benign
Transcript: ENSMUST00000206388
Predicted Effect probably benign
Transcript: ENSMUST00000206830
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,769,866 (GRCm39) Y322H probably benign Het
Aldh1a1 C A 19: 20,600,786 (GRCm39) T201K probably damaging Het
Ankrd26 T C 6: 118,516,685 (GRCm39) E493G possibly damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Bicc1 A T 10: 70,776,350 (GRCm39) V701E probably damaging Het
Car11 T A 7: 45,352,045 (GRCm39) probably null Het
Ccn1 A C 3: 145,354,452 (GRCm39) V153G probably damaging Het
Celsr1 C G 15: 85,914,968 (GRCm39) V1002L probably damaging Het
Clpx T A 9: 65,237,112 (GRCm39) S597T probably benign Het
Cplx3 A T 9: 57,519,149 (GRCm39) F266I probably benign Het
Dmpk A G 7: 18,826,525 (GRCm39) M545V probably benign Het
Dnah7c C G 1: 46,778,828 (GRCm39) D3139E probably benign Het
Drd5 T A 5: 38,477,178 (GRCm39) V57D possibly damaging Het
Epc2 A G 2: 49,341,903 (GRCm39) N29S possibly damaging Het
Ercc3 T C 18: 32,398,767 (GRCm39) V682A probably damaging Het
Fam186a T C 15: 99,844,931 (GRCm39) K438E unknown Het
Farp1 T A 14: 121,512,794 (GRCm39) I764N probably damaging Het
Flvcr2 A T 12: 85,794,250 (GRCm39) I209F probably benign Het
Fndc3b C T 3: 27,480,302 (GRCm39) V1065M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gp6 C A 7: 4,397,130 (GRCm39) D102Y probably damaging Het
Gpc5 T C 14: 115,330,179 (GRCm39) L114P probably benign Het
Kcnq3 T A 15: 65,869,599 (GRCm39) E613V probably damaging Het
Krt74 T G 15: 101,665,195 (GRCm39) noncoding transcript Het
Lipe T C 7: 25,082,750 (GRCm39) T801A probably benign Het
Lrp1 A G 10: 127,429,708 (GRCm39) V454A probably damaging Het
Mctp1 T C 13: 77,172,902 (GRCm39) silent Het
Nlrp4a G A 7: 26,156,455 (GRCm39) A727T probably benign Het
Nrgn T C 9: 37,457,344 (GRCm39) S48G probably benign Het
Oga A G 19: 45,765,438 (GRCm39) I123T probably damaging Het
Or10k2 T C 8: 84,267,973 (GRCm39) S67P probably damaging Het
Or4a73 T C 2: 89,421,069 (GRCm39) Y130C probably damaging Het
Or51f23 A G 7: 102,453,200 (GRCm39) S172G probably benign Het
Pdia6 A G 12: 17,328,594 (GRCm39) E183G probably benign Het
Pign T A 1: 105,517,040 (GRCm39) I529F probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Samm50 T G 15: 84,098,329 (GRCm39) I456S probably benign Het
Sesn1 A G 10: 41,687,267 (GRCm39) R84G probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Spag17 G T 3: 99,963,482 (GRCm39) D1067Y probably damaging Het
Sptan1 C T 2: 29,881,005 (GRCm39) Q425* probably null Het
Srrm4 T A 5: 116,729,418 (GRCm39) I36F unknown Het
Tas1r2 A T 4: 139,387,107 (GRCm39) S189C probably damaging Het
Tep1 A G 14: 51,091,062 (GRCm39) V690A possibly damaging Het
Trmo T C 4: 46,382,073 (GRCm39) K348R probably benign Het
Trmu T A 15: 85,766,899 (GRCm39) M36K probably damaging Het
Ubr4 A G 4: 139,179,959 (GRCm39) T3380A possibly damaging Het
Unc79 A C 12: 103,137,831 (GRCm39) T2425P probably damaging Het
Vmn2r12 G A 5: 109,240,666 (GRCm39) T149I probably benign Het
Vwa3a A C 7: 120,389,366 (GRCm39) K68T probably damaging Het
Yif1a T C 19: 5,138,778 (GRCm39) probably null Het
Zbtb44 A T 9: 30,965,348 (GRCm39) T253S probably damaging Het
Zdhhc3 T C 9: 122,929,410 (GRCm39) Y75C probably damaging Het
Zfp189 T A 4: 49,530,153 (GRCm39) F419I probably benign Het
Zfp663 T C 2: 165,194,929 (GRCm39) D430G probably benign Het
Zfp709 T G 8: 72,643,835 (GRCm39) probably null Het
Other mutations in Lsm14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Lsm14a APN 7 34,088,780 (GRCm39) intron probably benign
IGL02259:Lsm14a APN 7 34,070,558 (GRCm39) missense probably damaging 1.00
IGL02940:Lsm14a APN 7 34,070,596 (GRCm39) nonsense probably null
baluchistan UTSW 7 34,052,826 (GRCm39) nonsense probably null
beast UTSW 7 34,074,799 (GRCm39) missense probably damaging 1.00
R0234:Lsm14a UTSW 7 34,065,042 (GRCm39) missense probably damaging 1.00
R0234:Lsm14a UTSW 7 34,065,042 (GRCm39) missense probably damaging 1.00
R0826:Lsm14a UTSW 7 34,070,470 (GRCm39) splice site probably benign
R1344:Lsm14a UTSW 7 34,052,982 (GRCm39) missense probably damaging 1.00
R1641:Lsm14a UTSW 7 34,050,799 (GRCm39) missense probably damaging 0.99
R1667:Lsm14a UTSW 7 34,065,079 (GRCm39) missense possibly damaging 0.93
R2135:Lsm14a UTSW 7 34,070,609 (GRCm39) missense probably damaging 1.00
R2331:Lsm14a UTSW 7 34,056,915 (GRCm39) missense probably benign
R3709:Lsm14a UTSW 7 34,053,204 (GRCm39) missense probably damaging 0.99
R3710:Lsm14a UTSW 7 34,053,204 (GRCm39) missense probably damaging 0.99
R4304:Lsm14a UTSW 7 34,056,858 (GRCm39) critical splice donor site probably null
R4998:Lsm14a UTSW 7 34,074,799 (GRCm39) missense probably damaging 1.00
R5304:Lsm14a UTSW 7 34,053,154 (GRCm39) missense possibly damaging 0.58
R5383:Lsm14a UTSW 7 34,088,789 (GRCm39) missense possibly damaging 0.48
R6370:Lsm14a UTSW 7 34,056,906 (GRCm39) missense probably benign 0.17
R7443:Lsm14a UTSW 7 34,053,263 (GRCm39) missense probably benign
R7559:Lsm14a UTSW 7 34,052,826 (GRCm39) nonsense probably null
R7812:Lsm14a UTSW 7 34,088,301 (GRCm39) intron probably benign
R8115:Lsm14a UTSW 7 34,074,662 (GRCm39) missense probably benign 0.21
R9273:Lsm14a UTSW 7 34,088,225 (GRCm39) intron probably benign
R9729:Lsm14a UTSW 7 34,088,898 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCACGGGTACATGAACAAAC -3'
(R):5'- GTCGAGATGGTCCAATGAAATTTGAG -3'

Sequencing Primer
(F):5'- ATGAACAAACATGCAGACAAAAC -3'
(R):5'- GAGAAAGACTTTGACTTTGAAAGTGC -3'
Posted On 2016-11-08