Incidental Mutation 'R5811:Samd4b'
ID 447517
Institutional Source Beutler Lab
Gene Symbol Samd4b
Ensembl Gene ENSMUSG00000109336
Gene Name sterile alpha motif domain containing 4B
Synonyms
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.524) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28098947-28135616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28107445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 275 (S275G)
Ref Sequence ENSEMBL: ENSMUSP00000147037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000207766] [ENSMUST00000208126] [ENSMUST00000208199]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040531
AA Change: S275G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: S275G

DomainStartEndE-ValueType
low complexity region 81 90 N/A INTRINSIC
low complexity region 174 190 N/A INTRINSIC
low complexity region 200 211 N/A INTRINSIC
low complexity region 278 290 N/A INTRINSIC
SAM 296 359 1.02e-9 SMART
low complexity region 406 420 N/A INTRINSIC
low complexity region 433 461 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000207766
AA Change: Q224R
Predicted Effect probably benign
Transcript: ENSMUST00000208126
Predicted Effect probably damaging
Transcript: ENSMUST00000208199
AA Change: S275G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208676
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Samd4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Samd4b APN 7 28,101,302 (GRCm39) missense probably damaging 1.00
IGL00979:Samd4b APN 7 28,113,638 (GRCm39) missense probably damaging 1.00
IGL01336:Samd4b APN 7 28,113,388 (GRCm39) missense probably benign 0.00
IGL01432:Samd4b APN 7 28,113,491 (GRCm39) missense possibly damaging 0.60
IGL01895:Samd4b APN 7 28,101,334 (GRCm39) critical splice acceptor site probably null
IGL02827:Samd4b APN 7 28,113,546 (GRCm39) missense probably damaging 1.00
IGL03077:Samd4b APN 7 28,105,868 (GRCm39) missense probably damaging 0.99
IGL03055:Samd4b UTSW 7 28,104,971 (GRCm39) missense possibly damaging 0.89
R0367:Samd4b UTSW 7 28,122,873 (GRCm39) missense probably damaging 1.00
R0390:Samd4b UTSW 7 28,103,402 (GRCm39) missense probably benign 0.13
R0440:Samd4b UTSW 7 28,107,585 (GRCm39) missense probably benign 0.45
R0488:Samd4b UTSW 7 28,113,662 (GRCm39) missense probably damaging 1.00
R0798:Samd4b UTSW 7 28,101,048 (GRCm39) splice site probably benign
R1233:Samd4b UTSW 7 28,113,435 (GRCm39) missense probably damaging 0.98
R1234:Samd4b UTSW 7 28,113,435 (GRCm39) missense probably damaging 0.98
R1481:Samd4b UTSW 7 28,113,435 (GRCm39) missense probably damaging 0.98
R1643:Samd4b UTSW 7 28,123,041 (GRCm39) missense probably damaging 1.00
R1675:Samd4b UTSW 7 28,113,435 (GRCm39) missense probably damaging 0.98
R1768:Samd4b UTSW 7 28,113,317 (GRCm39) missense probably benign 0.36
R1801:Samd4b UTSW 7 28,106,756 (GRCm39) splice site probably null
R2831:Samd4b UTSW 7 28,103,338 (GRCm39) missense probably damaging 0.99
R4505:Samd4b UTSW 7 28,106,925 (GRCm39) missense probably benign 0.15
R4507:Samd4b UTSW 7 28,106,925 (GRCm39) missense probably benign 0.15
R4731:Samd4b UTSW 7 28,106,088 (GRCm39) missense probably benign 0.00
R6063:Samd4b UTSW 7 28,123,056 (GRCm39) start codon destroyed possibly damaging 0.71
R6114:Samd4b UTSW 7 28,222,217 (GRCm39) splice site probably null
R6356:Samd4b UTSW 7 28,101,018 (GRCm39) missense probably damaging 1.00
R6467:Samd4b UTSW 7 28,101,285 (GRCm39) missense probably damaging 1.00
R7055:Samd4b UTSW 7 28,103,458 (GRCm39) missense probably benign 0.01
R7191:Samd4b UTSW 7 28,113,686 (GRCm39) missense probably benign 0.18
R7371:Samd4b UTSW 7 28,122,926 (GRCm39) missense probably benign 0.33
R7445:Samd4b UTSW 7 28,105,881 (GRCm39) missense probably benign 0.00
R7543:Samd4b UTSW 7 28,113,711 (GRCm39) missense probably benign 0.02
R7663:Samd4b UTSW 7 28,122,925 (GRCm39) nonsense probably null
R7746:Samd4b UTSW 7 28,103,328 (GRCm39) missense probably damaging 1.00
R7991:Samd4b UTSW 7 28,103,458 (GRCm39) missense probably benign 0.01
R8235:Samd4b UTSW 7 28,106,031 (GRCm39) missense probably benign
R9423:Samd4b UTSW 7 28,113,633 (GRCm39) missense probably benign 0.00
R9615:Samd4b UTSW 7 28,106,714 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACCTGTGTCCTCCCTGAG -3'
(R):5'- AAGATTGATCGGGCCATGG -3'

Sequencing Primer
(F):5'- GGTGGCAGCTACAGGCAATTTTC -3'
(R):5'- ATGCTCAGATACCCTATCCTGAC -3'
Posted On 2016-12-15