Incidental Mutation 'IGL00979:Samd4b'
ID27939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd4b
Ensembl Gene ENSMUSG00000109336
Gene Namesterile alpha motif domain containing 4B
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.630) question?
Stock #IGL00979
Quality Score
Status
Chromosome7
Chromosomal Location28399522-28598144 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 28414213 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 109 (L109Q)
Ref Sequence ENSEMBL: ENSMUSP00000146984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000207766] [ENSMUST00000208199]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040531
AA Change: L109Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: L109Q

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 probably damaging
Transcript: ENSMUST00000207766
AA Change: L109Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208199
AA Change: L109Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208676
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,860,545 K84M probably damaging Het
A4gnt T A 9: 99,620,436 Y216* probably null Het
Abcb1b A G 5: 8,825,293 probably benign Het
Ankrd50 G A 3: 38,452,414 probably benign Het
Catsperb A G 12: 101,415,325 T89A probably benign Het
Ccdc15 C T 9: 37,316,490 S236N probably benign Het
Cd34 A C 1: 194,949,508 T151P possibly damaging Het
Col28a1 A T 6: 8,014,810 V865E probably damaging Het
Csf2rb T A 15: 78,348,104 V537E probably damaging Het
Cux2 A G 5: 121,873,714 F553L probably damaging Het
Dolk A T 2: 30,284,731 L434Q probably damaging Het
Dsg2 C A 18: 20,582,767 D255E probably damaging Het
Endov T C 11: 119,500,618 V144A probably damaging Het
Grik2 T C 10: 49,355,938 N499D probably damaging Het
Hephl1 G T 9: 15,067,045 T855K probably benign Het
Hif1a A G 12: 73,942,010 D557G probably damaging Het
Idh1 G A 1: 65,171,149 T75I probably damaging Het
Ighv1-37 A G 12: 114,896,450 S47P probably benign Het
Irx4 A G 13: 73,268,222 probably benign Het
Itpr1 C T 6: 108,471,120 A1871V probably damaging Het
Klkb1 A G 8: 45,294,068 probably benign Het
Lrrc8e T C 8: 4,235,080 L435P probably damaging Het
Megf11 T A 9: 64,508,727 Y73N probably damaging Het
Nfe2 T C 15: 103,249,180 D128G probably damaging Het
Olfr1301 T A 2: 111,754,426 M59K probably damaging Het
Olfr535 A G 7: 140,492,701 E21G probably benign Het
Pak6 C A 2: 118,696,482 L653I probably damaging Het
Pde4dip T A 3: 97,747,758 probably benign Het
Pds5a A G 5: 65,631,723 V831A probably benign Het
Ppp1r32 T C 19: 10,474,499 *428W probably null Het
Prc1 G T 7: 80,307,696 probably null Het
Ptprs C T 17: 56,458,243 G14S probably damaging Het
Pygb A G 2: 150,819,913 K520E probably benign Het
Rimbp2 A G 5: 128,806,441 S92P probably benign Het
Scn8a A T 15: 100,955,406 probably benign Het
Sdc3 A G 4: 130,818,680 I23V unknown Het
Sec61a2 A G 2: 5,872,020 Y350H possibly damaging Het
Slc4a3 A T 1: 75,554,247 Q759L probably damaging Het
Speg C T 1: 75,410,734 P1378L probably damaging Het
Spta1 T G 1: 174,208,390 Y1087* probably null Het
Tenm4 A G 7: 96,729,391 E401G probably damaging Het
Tom1 C A 8: 75,054,703 probably benign Het
Ttc3 T A 16: 94,456,718 V1273D probably damaging Het
Vmn2r106 G T 17: 20,277,575 D467E possibly damaging Het
Washc4 A T 10: 83,550,883 T124S probably benign Het
Zfp790 A G 7: 29,829,609 E573G probably benign Het
Other mutations in Samd4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Samd4b APN 7 28401877 missense probably damaging 1.00
IGL01336:Samd4b APN 7 28413963 missense probably benign 0.00
IGL01432:Samd4b APN 7 28414066 missense possibly damaging 0.60
IGL01895:Samd4b APN 7 28401909 critical splice acceptor site probably null
IGL02827:Samd4b APN 7 28414121 missense probably damaging 1.00
IGL03077:Samd4b APN 7 28406443 missense probably damaging 0.99
IGL03055:Samd4b UTSW 7 28405546 missense possibly damaging 0.89
R0367:Samd4b UTSW 7 28423448 missense probably damaging 1.00
R0390:Samd4b UTSW 7 28403977 missense probably benign 0.13
R0440:Samd4b UTSW 7 28408160 missense probably benign 0.45
R0488:Samd4b UTSW 7 28414237 missense probably damaging 1.00
R0798:Samd4b UTSW 7 28401623 splice site probably benign
R1233:Samd4b UTSW 7 28414010 missense probably damaging 0.98
R1234:Samd4b UTSW 7 28414010 missense probably damaging 0.98
R1481:Samd4b UTSW 7 28414010 missense probably damaging 0.98
R1643:Samd4b UTSW 7 28423616 missense probably damaging 1.00
R1675:Samd4b UTSW 7 28414010 missense probably damaging 0.98
R1768:Samd4b UTSW 7 28413892 missense probably benign 0.36
R1801:Samd4b UTSW 7 28407331 splice site probably null
R2831:Samd4b UTSW 7 28403913 missense probably damaging 0.99
R4505:Samd4b UTSW 7 28407500 missense probably benign 0.15
R4507:Samd4b UTSW 7 28407500 missense probably benign 0.15
R4731:Samd4b UTSW 7 28406663 missense probably benign 0.00
R5811:Samd4b UTSW 7 28408020 missense probably damaging 1.00
R6063:Samd4b UTSW 7 28423631 start codon destroyed possibly damaging 0.71
R6114:Samd4b UTSW 7 28522792 unclassified probably null
R6356:Samd4b UTSW 7 28401593 missense probably damaging 1.00
R6467:Samd4b UTSW 7 28401860 missense probably damaging 1.00
R7055:Samd4b UTSW 7 28404033 missense probably benign 0.01
R7191:Samd4b UTSW 7 28414261 missense probably benign 0.18
R7371:Samd4b UTSW 7 28423501 missense probably benign 0.33
R7445:Samd4b UTSW 7 28406456 missense probably benign 0.00
R7543:Samd4b UTSW 7 28414286 missense probably benign 0.02
R7663:Samd4b UTSW 7 28423500 nonsense probably null
R7746:Samd4b UTSW 7 28403903 missense probably damaging 1.00
Posted On2013-04-17