Incidental Mutation 'R3712:Srp14'
ID 259646
Institutional Source Beutler Lab
Gene Symbol Srp14
Ensembl Gene ENSMUSG00000009549
Gene Name signal recognition particle 14
Synonyms (homologous Alu RNA binding protein), 14kDa
MMRRC Submission 040705-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.647) question?
Stock # R3712 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 118306324-118310177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 118309440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 58 (L58V)
Ref Sequence ENSEMBL: ENSMUSP00000009693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005233] [ENSMUST00000009693] [ENSMUST00000102527] [ENSMUST00000110862] [ENSMUST00000110870] [ENSMUST00000110872] [ENSMUST00000110874]
AlphaFold P16254
PDB Structure SIGNAL RECOGNITION PARTICLE ALU RNA BINDING HETERODIMER, SRP9/14 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000005233
SMART Domains Protein: ENSMUSP00000005233
Gene: ENSMUSG00000005102

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
RWD 25 137 3.42e-38 SMART
coiled coil region 146 205 N/A INTRINSIC
Pfam:Pkinase 323 538 4.6e-27 PFAM
Pfam:Pkinase_Tyr 326 535 5.5e-18 PFAM
Pfam:Pkinase 589 663 1.7e-11 PFAM
Pfam:Pkinase_Tyr 589 663 1.2e-5 PFAM
low complexity region 728 738 N/A INTRINSIC
Pfam:Pkinase 781 1000 2.6e-38 PFAM
Pfam:Pkinase_Tyr 786 998 1.8e-18 PFAM
Pfam:tRNA-synt_His 1054 1380 5.7e-18 PFAM
Pfam:HGTP_anticodon2 1392 1647 5.8e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000009693
AA Change: L58V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000009693
Gene: ENSMUSG00000009549
AA Change: L58V

DomainStartEndE-ValueType
Pfam:SRP14 4 94 5.5e-31 PFAM
low complexity region 95 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102527
SMART Domains Protein: ENSMUSP00000099586
Gene: ENSMUSG00000005102

DomainStartEndE-ValueType
coiled coil region 34 93 N/A INTRINSIC
Pfam:Pkinase 211 426 1.6e-22 PFAM
Pfam:Pkinase_Tyr 215 423 6.8e-18 PFAM
Pfam:Pkinase_Tyr 477 551 1.2e-5 PFAM
Pfam:Pkinase 477 552 3.9e-11 PFAM
low complexity region 616 626 N/A INTRINSIC
Pfam:Pkinase 647 888 9.4e-42 PFAM
Pfam:Pkinase_Tyr 672 886 1.4e-19 PFAM
Pfam:tRNA-synt_His 941 1268 4.8e-19 PFAM
Pfam:HGTP_anticodon2 1280 1535 1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110862
AA Change: L58V

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106486
Gene: ENSMUSG00000009549
AA Change: L58V

DomainStartEndE-ValueType
Pfam:SRP14 4 96 8.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110870
SMART Domains Protein: ENSMUSP00000106494
Gene: ENSMUSG00000005102

DomainStartEndE-ValueType
Pfam:Pkinase 45 260 3.3e-22 PFAM
Pfam:Pkinase_Tyr 47 257 1.3e-17 PFAM
Pfam:Pkinase_Tyr 311 385 2.5e-5 PFAM
Pfam:Pkinase 311 386 8e-11 PFAM
low complexity region 450 460 N/A INTRINSIC
Pfam:Pkinase 481 722 1.9e-41 PFAM
Pfam:Pkinase_Tyr 506 720 2.8e-19 PFAM
Pfam:tRNA-synt_His 775 1102 8.7e-19 PFAM
Pfam:HGTP_anticodon2 1114 1369 1.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110872
SMART Domains Protein: ENSMUSP00000106496
Gene: ENSMUSG00000005102

DomainStartEndE-ValueType
coiled coil region 25 84 N/A INTRINSIC
Pfam:Pkinase 202 417 3.8e-22 PFAM
Pfam:Pkinase_Tyr 206 414 1.6e-17 PFAM
Pfam:Pkinase_Tyr 468 542 2.8e-5 PFAM
Pfam:Pkinase 468 543 9.1e-11 PFAM
low complexity region 607 617 N/A INTRINSIC
Pfam:Pkinase 638 879 2.2e-41 PFAM
Pfam:Pkinase_Tyr 663 877 3.3e-19 PFAM
Pfam:tRNA-synt_His 932 1259 1.1e-18 PFAM
Pfam:HGTP_anticodon2 1271 1526 2.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110874
SMART Domains Protein: ENSMUSP00000106498
Gene: ENSMUSG00000005102

DomainStartEndE-ValueType
Pfam:RWD 8 56 6.4e-8 PFAM
coiled coil region 68 127 N/A INTRINSIC
Pfam:Pkinase 245 460 1.1e-22 PFAM
Pfam:Pkinase_Tyr 247 457 4.2e-18 PFAM
Pfam:Pkinase_Tyr 511 585 7.8e-6 PFAM
Pfam:Pkinase 511 586 2.5e-11 PFAM
low complexity region 650 660 N/A INTRINSIC
Pfam:Pkinase 681 922 6.2e-42 PFAM
Pfam:Pkinase_Tyr 706 920 9.3e-20 PFAM
Pfam:tRNA-synt_His 975 1302 3.8e-19 PFAM
Pfam:HGTP_anticodon2 1314 1569 5.4e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118018
Meta Mutation Damage Score 0.1084 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik C A 16: 88,424,411 (GRCm39) V27F unknown Het
Akr1c20 T C 13: 4,560,222 (GRCm39) E152G probably damaging Het
Alx4 G A 2: 93,473,134 (GRCm39) G44D possibly damaging Het
Arhgap31 T A 16: 38,422,895 (GRCm39) E1057V possibly damaging Het
Arhgef26 A T 3: 62,331,050 (GRCm39) D588V probably damaging Het
Bag2 T A 1: 33,785,997 (GRCm39) E108D probably benign Het
Ccdc162 C T 10: 41,463,375 (GRCm39) V183I probably benign Het
Ccdc83 A G 7: 89,885,563 (GRCm39) probably benign Het
Ccnyl1 G A 1: 64,753,827 (GRCm39) E137K probably damaging Het
Celsr2 T C 3: 108,308,155 (GRCm39) T1849A probably benign Het
Cep192 C A 18: 67,953,400 (GRCm39) D472E probably benign Het
Cep57l1 A G 10: 41,619,110 (GRCm39) Y86H probably damaging Het
Cep95 G T 11: 106,702,112 (GRCm39) E370* probably null Het
Cldn10 A G 14: 119,092,522 (GRCm39) T41A probably damaging Het
Clptm1l T A 13: 73,764,157 (GRCm39) Y426N probably benign Het
Dipk1b T C 2: 26,522,650 (GRCm39) L33S possibly damaging Het
Eps15 T C 4: 109,166,374 (GRCm39) V89A probably damaging Het
Fam53b A G 7: 132,361,654 (GRCm39) S125P probably damaging Het
Fbxo44 A T 4: 148,240,461 (GRCm39) W256R probably benign Het
Gnl2 T C 4: 124,940,067 (GRCm39) V313A probably damaging Het
Hyal4 A G 6: 24,756,513 (GRCm39) R244G probably damaging Het
Irf6 G T 1: 192,844,931 (GRCm39) W134L probably benign Het
Kcnu1 A G 8: 26,371,448 (GRCm39) T286A probably damaging Het
Lpcat2 T C 8: 93,644,798 (GRCm39) V529A possibly damaging Het
Lrfn2 A G 17: 49,378,188 (GRCm39) E423G possibly damaging Het
Lrp8 G T 4: 107,705,499 (GRCm39) R209L probably benign Het
Mgll T C 6: 88,741,570 (GRCm39) probably benign Het
Mix23 T C 16: 35,901,775 (GRCm39) probably null Het
Mta3 A G 17: 84,070,417 (GRCm39) I193V probably damaging Het
Nedd4l G A 18: 65,342,790 (GRCm39) V909I possibly damaging Het
Or10al5 T A 17: 38,063,271 (GRCm39) C175* probably null Het
Or3a1d A T 11: 74,238,023 (GRCm39) I129N probably damaging Het
Or5p66 A T 7: 107,885,663 (GRCm39) Y223* probably null Het
Or6c206 A T 10: 129,097,093 (GRCm39) K88* probably null Het
Orc1 T C 4: 108,461,218 (GRCm39) V526A probably damaging Het
Pard3b T C 1: 62,383,137 (GRCm39) S744P probably damaging Het
Pcnx3 G A 19: 5,733,367 (GRCm39) Q155* probably null Het
Pcnx3 C G 19: 5,733,368 (GRCm39) L1F probably null Het
Pdcd11 T A 19: 47,115,684 (GRCm39) probably benign Het
Pi4k2a G A 19: 42,079,131 (GRCm39) R64Q probably damaging Het
Pigt A G 2: 164,343,565 (GRCm39) D347G probably benign Het
Rbm27 T C 18: 42,425,177 (GRCm39) probably benign Het
Rpl7a-ps10 A G 9: 97,061,926 (GRCm39) E232G probably damaging Het
Rprd2 A G 3: 95,671,872 (GRCm39) L1177P probably damaging Het
Rrn3 T A 16: 13,601,959 (GRCm39) L71* probably null Het
Sbspon A G 1: 15,962,669 (GRCm39) C70R probably damaging Het
Smtn A T 11: 3,482,865 (GRCm39) probably null Het
Son A G 16: 91,453,614 (GRCm39) D787G probably damaging Het
Sphkap C T 1: 83,254,833 (GRCm39) S972N probably benign Het
Spopl C T 2: 23,427,392 (GRCm39) R221Q probably damaging Het
Sun2 A G 15: 79,612,114 (GRCm39) S522P possibly damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trdn T C 10: 33,033,162 (GRCm39) I129T probably benign Het
Trpv3 A G 11: 73,169,780 (GRCm39) K117R probably benign Het
Ubqlnl A T 7: 103,798,345 (GRCm39) I384N probably benign Het
Ush2a G A 1: 188,542,489 (GRCm39) G3352S probably benign Het
Vmn1r59 A T 7: 5,457,637 (GRCm39) I41K probably damaging Het
Vmn2r125 T A 4: 156,702,419 (GRCm39) Y68* probably null Het
Zpld1 A T 16: 55,046,799 (GRCm39) L390* probably null Het
Other mutations in Srp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7076:Srp14 UTSW 2 118,309,871 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCAAAGTCAGCCTGAGTAGAC -3'
(R):5'- TATCCTGAGTGATGGCGGAC -3'

Sequencing Primer
(F):5'- TCAGCCTGAGTAGACTGCAAGAC -3'
(R):5'- AACCTATCCCGAGGAAGA -3'
Posted On 2015-01-23