Incidental Mutation 'R9500:Samd14'
ID 717511
Institutional Source Beutler Lab
Gene Symbol Samd14
Ensembl Gene ENSMUSG00000047181
Gene Name sterile alpha motif domain containing 14
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R9500 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94900705-94916913 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 94914372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 343 (Y343*)
Ref Sequence ENSEMBL: ENSMUSP00000062231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431] [ENSMUST00000055947] [ENSMUST00000124735]
AlphaFold Q8K070
Predicted Effect probably benign
Transcript: ENSMUST00000038431
SMART Domains Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 30 192 3.8e-52 PFAM
HATPase_c 240 364 9.32e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000055947
AA Change: Y343*
SMART Domains Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181
AA Change: Y343*

DomainStartEndE-ValueType
low complexity region 42 57 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
low complexity region 244 260 N/A INTRINSIC
low complexity region 276 289 N/A INTRINSIC
SAM 323 389 7.96e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124735
SMART Domains Protein: ENSMUSP00000123361
Gene: ENSMUSG00000047181

DomainStartEndE-ValueType
SCOP:d1jj2w_ 21 62 1e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,091 (GRCm39) T107I possibly damaging Het
Acyp1 T A 12: 85,325,786 (GRCm39) Y71F unknown Het
Akap11 A T 14: 78,748,543 (GRCm39) H1281Q Het
Amz1 T C 5: 140,737,975 (GRCm39) Y412H probably benign Het
Anxa10 C T 8: 62,545,545 (GRCm39) M62I probably benign Het
Arhgap25 T C 6: 87,469,184 (GRCm39) K109E probably damaging Het
Arhgap31 T A 16: 38,460,683 (GRCm39) E43D probably damaging Het
Atf6 T C 1: 170,574,708 (GRCm39) M577V probably damaging Het
Auts2 C A 5: 131,505,620 (GRCm39) A82S unknown Het
Bcl3 T C 7: 19,556,602 (GRCm39) M1V probably null Het
Cblb T C 16: 51,959,993 (GRCm39) probably null Het
Cc2d2b T C 19: 40,797,840 (GRCm39) V820A unknown Het
Clint1 T G 11: 45,797,194 (GRCm39) M425R possibly damaging Het
Clvs1 A G 4: 9,429,834 (GRCm39) D279G probably damaging Het
Colec11 A C 12: 28,645,302 (GRCm39) I123S probably damaging Het
Crebbp C T 16: 3,911,355 (GRCm39) E1460K probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcaf8 C G 1: 171,999,909 (GRCm39) S22R possibly damaging Het
Dmxl1 T C 18: 50,011,271 (GRCm39) S1143P probably damaging Het
Dnhd1 T C 7: 105,353,709 (GRCm39) I2954T probably benign Het
Dop1b C T 16: 93,607,171 (GRCm39) P2275L probably benign Het
Drc3 A G 11: 60,261,334 (GRCm39) S162G probably benign Het
Ehd2 T C 7: 15,686,077 (GRCm39) I332V possibly damaging Het
Eml1 T A 12: 108,493,958 (GRCm39) D584E probably damaging Het
Eogt T C 6: 97,096,992 (GRCm39) T339A probably benign Het
Gbf1 A G 19: 46,258,389 (GRCm39) T949A probably benign Het
Gm11568 GCTGCTGCCAGCCCTGCTGCCAGCCC GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC 11: 99,749,044 (GRCm39) probably benign Het
Gm11568 AGCCC AGCCCTGCTGCCTGCCC 11: 99,749,065 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,606,120 (GRCm39) C88* probably null Het
Ifit1bl2 A T 19: 34,596,508 (GRCm39) Y369* probably null Het
Igsf6 A G 7: 120,673,697 (GRCm39) L11P probably benign Het
Lars1 A T 18: 42,361,726 (GRCm39) I627N probably damaging Het
Lmo3 G T 6: 138,393,621 (GRCm39) Q11K Het
Mical2 A T 7: 111,936,054 (GRCm39) probably null Het
Mmp23 A G 4: 155,736,567 (GRCm39) V158A probably benign Het
Mmp24 T C 2: 155,654,195 (GRCm39) I391T probably damaging Het
Mrgpra3 A T 7: 47,239,400 (GRCm39) Y175* probably null Het
Mrpl23 G A 7: 142,089,859 (GRCm39) V65M probably damaging Het
Mup1 A G 4: 60,456,488 (GRCm39) L85S possibly damaging Het
Myo15b T C 11: 115,777,466 (GRCm39) L747S probably damaging Het
Nanog G T 6: 122,690,219 (GRCm39) W208L probably damaging Het
Nkg7 A G 7: 43,087,229 (GRCm39) Y112C probably damaging Het
Nup155 A G 15: 8,141,800 (GRCm39) D64G probably damaging Het
Or13p4 A G 4: 118,546,930 (GRCm39) S240P possibly damaging Het
Palm3 T C 8: 84,753,636 (GRCm39) S108P probably damaging Het
Pam T C 1: 97,772,325 (GRCm39) N579D probably benign Het
Pclo A G 5: 14,725,648 (GRCm39) E1502G unknown Het
Pde4dip A G 3: 97,795,896 (GRCm39) S31P unknown Het
Peg10 A T 6: 4,756,871 (GRCm39) K482N unknown Het
Phf19 A T 2: 34,801,708 (GRCm39) L34* probably null Het
Pla2g2c A T 4: 138,461,689 (GRCm39) K53* probably null Het
Pla2g4f T A 2: 120,142,713 (GRCm39) probably null Het
Polk G T 13: 96,630,349 (GRCm39) T404K probably damaging Het
Prkdc T A 16: 15,657,079 (GRCm39) V4058D possibly damaging Het
Prox2 T A 12: 85,134,851 (GRCm39) I477F probably damaging Het
Ptk6 A G 2: 180,837,566 (GRCm39) V451A probably benign Het
Ptpn3 C T 4: 57,205,914 (GRCm39) E693K possibly damaging Het
Rag2 G A 2: 101,461,217 (GRCm39) G509D probably damaging Het
Rapgef2 A G 3: 78,974,093 (GRCm39) C1418R probably benign Het
Rev1 A T 1: 38,102,214 (GRCm39) Y716* probably null Het
Rsl1d1 T A 16: 11,011,385 (GRCm39) T440S possibly damaging Het
Sema3a A T 5: 13,615,854 (GRCm39) D426V possibly damaging Het
Slc7a11 G A 3: 50,382,201 (GRCm39) T182M probably benign Het
Slitrk5 A G 14: 111,916,726 (GRCm39) I117V possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Stil A T 4: 114,878,716 (GRCm39) H384L possibly damaging Het
Suclg2 C A 6: 95,546,666 (GRCm39) R270L probably damaging Het
Taf5 A G 19: 47,065,771 (GRCm39) D492G probably damaging Het
Tes3-ps T A 13: 49,647,815 (GRCm39) Y230* probably null Het
Ttc41 G T 10: 86,565,726 (GRCm39) A427S probably benign Het
Ttn T C 2: 76,553,994 (GRCm39) D30903G probably damaging Het
Txndc16 A T 14: 45,406,798 (GRCm39) L219Q probably null Het
Usp34 T A 11: 23,331,337 (GRCm39) H1098Q probably damaging Het
Vmn2r52 T A 7: 9,905,281 (GRCm39) Y186F probably damaging Het
Zbtb41 T C 1: 139,359,806 (GRCm39) F512S probably damaging Het
Other mutations in Samd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Samd14 APN 11 94,912,294 (GRCm39) unclassified probably benign
IGL01466:Samd14 APN 11 94,914,081 (GRCm39) unclassified probably benign
IGL02212:Samd14 APN 11 94,914,176 (GRCm39) missense probably damaging 0.98
R1835:Samd14 UTSW 11 94,914,426 (GRCm39) missense probably damaging 1.00
R2004:Samd14 UTSW 11 94,914,110 (GRCm39) missense probably damaging 0.99
R2172:Samd14 UTSW 11 94,905,217 (GRCm39) missense probably benign
R4584:Samd14 UTSW 11 94,912,361 (GRCm39) splice site probably null
R5133:Samd14 UTSW 11 94,912,409 (GRCm39) missense probably damaging 0.98
R6852:Samd14 UTSW 11 94,912,280 (GRCm39) missense probably damaging 1.00
R7563:Samd14 UTSW 11 94,912,239 (GRCm39) missense probably benign 0.03
R7923:Samd14 UTSW 11 94,914,284 (GRCm39) critical splice acceptor site probably null
R8215:Samd14 UTSW 11 94,905,213 (GRCm39) missense probably benign
R8915:Samd14 UTSW 11 94,912,027 (GRCm39) missense probably damaging 1.00
R8933:Samd14 UTSW 11 94,912,027 (GRCm39) missense probably damaging 1.00
R8945:Samd14 UTSW 11 94,912,027 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCGACAGGAGACCAAGTGTTC -3'
(R):5'- TCAGTCCAGGAGGTAAGTCAG -3'

Sequencing Primer
(F):5'- GGAGACCAAGTGTTCCTATCC -3'
(R):5'- TCAGGGTCAAAAGTCAGGAC -3'
Posted On 2022-07-18