Incidental Mutation 'R7076:Srp14'
ID 549200
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 045171-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.647) question?
Stock # R7076 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 118306324-118310177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118309871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 29 (T29A)
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 damaging
Transcript: ENSMUST00000009693
AA Change: T29A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000009693
Gene: ENSMUSG00000009549
AA Change: T29A

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 probably damaging
Transcript: ENSMUST00000110862
AA Change: T29A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106486
Gene: ENSMUSG00000009549
AA Change: T29A

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
Meta Mutation Damage Score 0.6688 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A G 8: 56,324,694 (GRCm39) C587R probably damaging Het
Adgrg7 T C 16: 56,562,769 (GRCm39) T523A probably damaging Het
Arrdc3 A T 13: 81,038,815 (GRCm39) K259M probably damaging Het
Becn1 A T 11: 101,186,150 (GRCm39) N151K probably benign Het
Cars2 C T 8: 11,579,649 (GRCm39) E270K probably damaging Het
Ccp110 C A 7: 118,331,628 (GRCm39) P943Q probably damaging Het
Ccser2 A G 14: 36,661,786 (GRCm39) I466T probably benign Het
Cd164 A G 10: 41,399,193 (GRCm39) E94G probably benign Het
Cdon C T 9: 35,415,446 (GRCm39) T1228I probably benign Het
Cubn C A 2: 13,311,091 (GRCm39) V3145L probably benign Het
Cubn T A 2: 13,311,092 (GRCm39) K3144N probably benign Het
Dchs1 A G 7: 105,411,078 (GRCm39) V1649A probably benign Het
Dgka A T 10: 128,569,452 (GRCm39) D153E probably damaging Het
Dip2b A G 15: 100,055,853 (GRCm39) probably null Het
Dnajc21 T C 15: 10,449,717 (GRCm39) T435A probably benign Het
F830016B08Rik A T 18: 60,433,543 (GRCm39) I209F probably damaging Het
Ghdc C A 11: 100,660,540 (GRCm39) S111I possibly damaging Het
Gm19965 T C 1: 116,749,005 (GRCm39) C229R Het
Gpm6a C T 8: 55,490,486 (GRCm39) T54I probably damaging Het
Gpr171 G T 3: 59,005,577 (GRCm39) A66E probably damaging Het
Grm7 A G 6: 111,335,113 (GRCm39) D508G probably benign Het
Has1 G A 17: 18,064,068 (GRCm39) R524C probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv3-8 A T 12: 114,286,402 (GRCm39) L7Q probably damaging Het
Ints10 A T 8: 69,249,403 (GRCm39) R78* probably null Het
Itpr1 A G 6: 108,365,257 (GRCm39) I903V probably benign Het
Lrp1 A G 10: 127,386,052 (GRCm39) probably null Het
Mki67 A G 7: 135,307,358 (GRCm39) V132A probably damaging Het
Myh4 A G 11: 67,143,999 (GRCm39) E1123G possibly damaging Het
Neurog3 A G 10: 61,969,359 (GRCm39) T40A probably benign Het
Nipsnap3b T A 4: 53,021,095 (GRCm39) probably null Het
Nr4a3 G A 4: 48,055,957 (GRCm39) V328I probably damaging Het
Or11g27 T A 14: 50,771,278 (GRCm39) Y136* probably null Het
Or2d36 T C 7: 106,747,236 (GRCm39) F238L probably damaging Het
Or52u1 A T 7: 104,237,430 (GRCm39) S140C probably damaging Het
Or5af2 G A 11: 58,707,990 (GRCm39) R52Q probably benign Het
Or5b124 G T 19: 13,611,244 (GRCm39) M256I possibly damaging Het
Or5p63 A T 7: 107,811,205 (GRCm39) V177D probably damaging Het
Osbpl5 A G 7: 143,263,577 (GRCm39) L102P probably benign Het
Ppl C T 16: 4,917,983 (GRCm39) R503Q probably damaging Het
Ppp2r2d T C 7: 138,478,326 (GRCm39) M321T possibly damaging Het
Prex1 T C 2: 166,475,302 (GRCm39) Y197C probably damaging Het
Prss32 A G 17: 24,072,895 (GRCm39) D42G possibly damaging Het
Ralgapa1 T C 12: 55,768,361 (GRCm39) E1210G possibly damaging Het
Sdr16c5 A G 4: 4,006,591 (GRCm39) C234R probably damaging Het
Slc23a4 A G 6: 34,933,819 (GRCm39) S95P probably damaging Het
Tet2 T A 3: 133,172,784 (GRCm39) H1826L possibly damaging Het
Tfr2 A T 5: 137,581,836 (GRCm39) Y641F probably damaging Het
Tmco5b A G 2: 113,117,766 (GRCm39) N27D probably damaging Het
Tvp23a T C 16: 10,246,599 (GRCm39) D62G probably benign Het
Usp12 A G 5: 146,674,562 (GRCm39) F347S possibly damaging Het
Zfp407 A T 18: 84,576,601 (GRCm39) L1504Q probably damaging Het
Zfp524 A G 7: 5,020,895 (GRCm39) D141G possibly damaging Het
Zfp68 A G 5: 138,605,201 (GRCm39) I374T possibly damaging Het
Zfp758 C T 17: 22,594,137 (GRCm39) H208Y probably benign Het
Zfp804b T C 5: 6,819,751 (GRCm39) H1104R probably benign Het
Znrf2 T A 6: 54,819,680 (GRCm39) *75K probably null Het
Zzef1 T C 11: 72,790,385 (GRCm39) V2113A probably benign Het
Other mutations in Srp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3712:Srp14 UTSW 2 118,309,440 (GRCm39) missense probably null 0.01
Predicted Primers PCR Primer
(F):5'- TCTTCCTCACTAACGGAGCG -3'
(R):5'- CGAGTTTTCCGGCTGTAACC -3'

Sequencing Primer
(F):5'- ACTAACGGAGCGGGGGC -3'
(R):5'- TGTAACCGCTGGAGGCTTC -3'
Posted On 2019-05-15