Incidental Mutation 'IGL01432:Samd4b'
ID84170
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: 0.508) question?
Stock #IGL01432
Quality Score
Status
Chromosome7
Chromosomal Location28399522-28598144 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28414066 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 158 (F158S)
Ref Sequence ENSEMBL: ENSMUSP00000146984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000207766] [ENSMUST00000208199]
Predicted Effect probably benign
Transcript: ENSMUST00000040531
AA Change: F158S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: F158S

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 possibly damaging
Transcript: ENSMUST00000207766
AA Change: F158S

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000208199
AA Change: F158S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208676
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,003,759 V3166E possibly damaging Het
Aldh9a1 T C 1: 167,355,785 S191P probably damaging Het
Aldoart2 A T 12: 55,565,781 I164F probably damaging Het
Anapc1 C A 2: 128,633,408 A1384S probably damaging Het
Arid5a T G 1: 36,319,433 S429A possibly damaging Het
Asxl1 A G 2: 153,400,205 K892E probably benign Het
Bpnt1 G A 1: 185,354,021 W261* probably null Het
Calu A G 6: 29,356,553 D26G possibly damaging Het
Ccdc113 C T 8: 95,538,257 probably benign Het
Cd109 T C 9: 78,698,123 Y1003H probably benign Het
Cdh9 A G 15: 16,830,947 K290R probably damaging Het
Cep131 G A 11: 120,077,009 A140V possibly damaging Het
Chn1 A T 2: 73,631,752 C236S probably damaging Het
Cntn4 T A 6: 106,678,334 probably benign Het
Crispld1 A T 1: 17,746,801 Q194L probably benign Het
Csmd3 A G 15: 47,733,499 V1981A probably damaging Het
Cttn A G 7: 144,461,306 I55T probably damaging Het
Ddx46 G T 13: 55,638,022 probably benign Het
Diaph1 A T 18: 37,897,504 I299N unknown Het
Dll1 A G 17: 15,368,506 Y636H probably damaging Het
Eng A T 2: 32,669,532 Q111L possibly damaging Het
Exoc6 T C 19: 37,589,876 V389A possibly damaging Het
Fbxw26 T A 9: 109,717,975 T461S probably benign Het
Gbf1 T C 19: 46,279,995 Y1269H probably damaging Het
Gm10436 T C 12: 88,176,432 K139E probably benign Het
Gm5852 A G 3: 93,727,779 Y90H possibly damaging Het
Gnrhr C T 5: 86,182,193 G323R probably damaging Het
Gpr155 T A 2: 73,351,885 E661D possibly damaging Het
Grik4 A T 9: 42,521,176 C842S probably damaging Het
Iws1 A G 18: 32,083,466 probably benign Het
Kif5c A G 2: 49,701,077 T314A probably damaging Het
Klhdc1 A C 12: 69,251,977 K112T probably damaging Het
Kmt2a T C 9: 44,809,096 T3865A unknown Het
Lgr5 T C 10: 115,453,092 K477R probably damaging Het
Ly75 A T 2: 60,376,007 L106Q probably damaging Het
Mcph1 T A 8: 18,625,639 M26K probably damaging Het
Mettl2 T C 11: 105,126,522 V9A probably benign Het
Mgat5b A G 11: 116,973,376 D456G probably benign Het
Mstn A G 1: 53,066,530 T344A possibly damaging Het
Npr1 T A 3: 90,463,236 I308F possibly damaging Het
Oasl1 G A 5: 114,937,407 V509M probably benign Het
Obscn T C 11: 59,033,757 M5727V probably benign Het
Olfr1219 T A 2: 89,074,201 I297F probably benign Het
Olfr262 A G 19: 12,241,527 S45P probably damaging Het
Olfr710 T C 7: 106,944,541 I153M possibly damaging Het
Olfr726 T A 14: 50,083,947 T245S probably benign Het
Pcgf1 T C 6: 83,078,417 I11T possibly damaging Het
Phactr3 T C 2: 178,283,100 V276A probably benign Het
Pla2g6 A T 15: 79,317,968 M1K probably null Het
Plec T C 15: 76,190,528 E413G probably damaging Het
Plxna2 G T 1: 194,644,318 A187S possibly damaging Het
Polq A T 16: 37,071,822 probably benign Het
Prss39 A G 1: 34,502,135 D240G probably benign Het
Ptpn12 A T 5: 20,998,555 Y408* probably null Het
Ptprt A G 2: 162,268,079 probably benign Het
Rnf6 A T 5: 146,216,121 S95T possibly damaging Het
Ryr2 T C 13: 11,851,204 S287G possibly damaging Het
Slco1a5 T A 6: 142,236,286 I571L possibly damaging Het
Smchd1 T C 17: 71,431,290 T527A probably damaging Het
Smg9 T C 7: 24,421,266 probably null Het
Snx25 A G 8: 46,105,160 L270P probably damaging Het
Ssh1 G T 5: 113,958,822 T165N probably benign Het
Stk24 T A 14: 121,302,806 E127V probably damaging Het
Suco A G 1: 161,834,120 V914A probably damaging Het
Tbcd T A 11: 121,475,680 probably benign Het
Tbcel A T 9: 42,444,521 L114Q possibly damaging Het
Trpm1 A G 7: 64,235,019 D816G probably benign Het
Uhrf1 G A 17: 56,318,250 V566M probably damaging Het
Ulk4 T A 9: 121,266,301 E95D probably damaging Het
Vmn1r40 T C 6: 89,714,219 M6T probably benign Het
Vmn2r59 C T 7: 42,012,559 V611I possibly damaging Het
Vwde G T 6: 13,193,240 H367N probably benign Het
Wdr66 A G 5: 123,279,952 I81M possibly damaging Het
Xpo6 A G 7: 126,124,381 V585A probably benign Het
Other mutations in Samd4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Samd4b APN 7 28401877 missense probably damaging 1.00
IGL00979:Samd4b APN 7 28414213 missense probably damaging 1.00
IGL01336:Samd4b APN 7 28413963 missense probably benign 0.00
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 On2013-11-11