Incidental Mutation 'IGL02942:Larp7'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Larp7
Ensembl Gene ENSMUSG00000027968
Gene NameLa ribonucleoprotein domain family, member 7
SynonymsD3Wsu161e, C330027G06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02942
Quality Score
Chromosomal Location127536714-127553349 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127544195 bp
Amino Acid Change Isoleucine to Asparagine at position 405 (I405N)
Ref Sequence ENSEMBL: ENSMUSP00000029588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029588] [ENSMUST00000197668]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029588
AA Change: I405N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029588
Gene: ENSMUSG00000027968
AA Change: I405N

LA 26 106 1.29e-30 SMART
RRM 120 196 5.37e-15 SMART
low complexity region 210 226 N/A INTRINSIC
low complexity region 257 273 N/A INTRINSIC
low complexity region 302 311 N/A INTRINSIC
low complexity region 350 364 N/A INTRINSIC
Pfam:RRM_3 442 540 1.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195976
Predicted Effect probably benign
Transcript: ENSMUST00000197668
SMART Domains Protein: ENSMUSP00000143331
Gene: ENSMUSG00000027968

LA 26 80 9.2e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197698
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null mutation display complete perinatal lethality and a decrease in primordial germ cell number and proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A C 15: 91,149,175 D679E probably damaging Het
Adh6a A T 3: 138,324,881 D88V probably damaging Het
Ank3 G A 10: 69,973,877 V1123I probably damaging Het
Apba1 T C 19: 23,944,971 V801A possibly damaging Het
Bcl2a1a C T 9: 88,957,042 probably benign Het
Brd8 A G 18: 34,610,627 V215A possibly damaging Het
Cdk17 G A 10: 93,238,968 V454I probably benign Het
Chd5 G A 4: 152,385,725 G1876D probably damaging Het
Clec4g T C 8: 3,718,356 E125G probably damaging Het
Col24a1 G A 3: 145,541,665 G1602D probably damaging Het
Depdc7 A C 2: 104,728,094 L194R probably damaging Het
Dgke T G 11: 89,055,369 N202H probably benign Het
Dkk2 T A 3: 132,178,037 C233S probably damaging Het
Dmpk A C 7: 19,092,241 D542A probably damaging Het
Epb41l4a G A 18: 33,874,201 R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 Q1438L probably damaging Het
Gcgr A G 11: 120,536,817 probably null Het
Gm10295 T C 7: 71,350,502 K110R unknown Het
Ifrd1 A G 12: 40,217,376 probably null Het
Inpp5f A G 7: 128,694,900 T365A probably benign Het
Kcnn3 A G 3: 89,652,076 K551R probably benign Het
Lama2 A T 10: 27,041,220 N2236K probably damaging Het
Meltf C A 16: 31,890,778 Y432* probably null Het
Mst1r C A 9: 107,913,153 T655K possibly damaging Het
Myh1 C T 11: 67,202,482 P133L probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1454 A T 19: 13,064,188 Q259L probably benign Het
Olfr2 A G 7: 107,001,354 S169P possibly damaging Het
Olfr584 A T 7: 103,086,198 M222L probably benign Het
Pfkl A T 10: 78,000,133 probably null Het
Plekhb2 T C 1: 34,876,992 M204T probably damaging Het
Ptp4a2 G A 4: 129,845,193 probably null Het
Rtp4 A G 16: 23,612,954 T79A probably benign Het
Senp3 T C 11: 69,677,989 D410G probably benign Het
Slc16a5 T C 11: 115,469,350 F120L possibly damaging Het
Snrpe T C 1: 133,608,931 E37G probably damaging Het
Sorcs1 T C 19: 50,475,437 T192A probably damaging Het
Spef2 T A 15: 9,668,874 H742L possibly damaging Het
Syt12 T C 19: 4,447,830 S375G probably benign Het
Tas2r117 T C 6: 132,803,694 L265P probably benign Het
Tcp10a T A 17: 7,329,919 D158E probably damaging Het
Tesk2 A T 4: 116,771,820 H122L probably damaging Het
Unc93b1 T A 19: 3,948,686 M535K probably damaging Het
Vangl1 C A 3: 102,184,031 R246S probably damaging Het
Xpo5 C T 17: 46,208,133 T166I probably damaging Het
Zcchc6 T G 13: 59,811,521 N378H probably damaging Het
Zmiz2 T C 11: 6,399,500 probably benign Het
Other mutations in Larp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0358:Larp7 UTSW 3 127547088 critical splice donor site probably null
R0601:Larp7 UTSW 3 127544209 missense probably damaging 1.00
R0714:Larp7 UTSW 3 127547184 missense probably damaging 0.99
R0765:Larp7 UTSW 3 127546165 missense probably damaging 1.00
R0865:Larp7 UTSW 3 127544235 missense probably damaging 0.99
R1902:Larp7 UTSW 3 127540578 missense probably damaging 1.00
R2125:Larp7 UTSW 3 127543130 missense probably benign
R3618:Larp7 UTSW 3 127536965 nonsense probably null
R3721:Larp7 UTSW 3 127546811 missense probably damaging 1.00
R4008:Larp7 UTSW 3 127540870 missense probably benign 0.40
R4165:Larp7 UTSW 3 127536962 missense probably benign 0.02
R4210:Larp7 UTSW 3 127546954 missense probably benign 0.02
R4211:Larp7 UTSW 3 127546954 missense probably benign 0.02
R4738:Larp7 UTSW 3 127546045 critical splice donor site probably null
R5149:Larp7 UTSW 3 127540811 missense probably damaging 0.99
R6703:Larp7 UTSW 3 127544224 missense probably damaging 0.99
R6803:Larp7 UTSW 3 127537036 critical splice acceptor site probably null
Posted On2015-12-18