Incidental Mutation 'R1543:Scn4b'
ID 171931
Institutional Source Beutler Lab
Gene Symbol Scn4b
Ensembl Gene ENSMUSG00000046480
Gene Name sodium channel, type IV, beta
Synonyms LOC384934
MMRRC Submission 039582-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1543 (G1)
Quality Score 176
Status Validated
Chromosome 9
Chromosomal Location 45049922-45065453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45061727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 204 (S204R)
Ref Sequence ENSEMBL: ENSMUSP00000062507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060125]
AlphaFold Q7M729
Predicted Effect probably damaging
Transcript: ENSMUST00000060125
AA Change: S204R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062507
Gene: ENSMUSG00000046480
AA Change: S204R

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
IG 38 152 4.49e-6 SMART
transmembrane domain 161 183 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.2%
Validation Efficiency 95% (77/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik G A 6: 40,945,138 (GRCm39) V206I probably damaging Het
Abca8b A C 11: 109,865,500 (GRCm39) M319R probably damaging Het
Abcc6 T C 7: 45,665,928 (GRCm39) R231G probably benign Het
Acadm A G 3: 153,635,209 (GRCm39) Y302H probably damaging Het
Acox3 C A 5: 35,760,352 (GRCm39) R423S probably damaging Het
Adam7 T A 14: 68,759,371 (GRCm39) probably benign Het
Adgrb3 A C 1: 25,527,169 (GRCm39) M589R probably benign Het
Adgrl2 A C 3: 148,564,909 (GRCm39) F224V probably damaging Het
Adm2 G C 15: 89,208,282 (GRCm39) G74A probably damaging Het
Aen T A 7: 78,552,370 (GRCm39) V15E probably damaging Het
Ankzf1 T A 1: 75,169,160 (GRCm39) V22D possibly damaging Het
Arap2 T A 5: 62,763,498 (GRCm39) K1549* probably null Het
Arhgef11 G A 3: 87,620,324 (GRCm39) R430H probably benign Het
Asb17 T G 3: 153,550,148 (GRCm39) L60W probably damaging Het
BC035044 T C 6: 128,867,948 (GRCm39) probably benign Het
Bltp2 A G 11: 78,166,000 (GRCm39) T1422A probably benign Het
Cacna2d1 A T 5: 16,471,716 (GRCm39) M254L possibly damaging Het
Celf6 T C 9: 59,511,160 (GRCm39) probably benign Het
Cemip2 G T 19: 21,789,937 (GRCm39) A668S probably benign Het
Coro2b C T 9: 62,333,123 (GRCm39) V120I probably benign Het
Cyp20a1 C A 1: 60,415,353 (GRCm39) probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dclk3 A G 9: 111,297,122 (GRCm39) H222R probably benign Het
Deaf1 A G 7: 140,904,060 (GRCm39) S109P possibly damaging Het
Dlg5 T A 14: 24,194,516 (GRCm39) D1675V probably damaging Het
Dsg2 T A 18: 20,727,268 (GRCm39) V605E probably benign Het
Dync2i1 T C 12: 116,195,404 (GRCm39) probably benign Het
Frem2 A T 3: 53,479,876 (GRCm39) I1939N possibly damaging Het
Fsip2 A T 2: 82,811,931 (GRCm39) Y2750F possibly damaging Het
Gpr39 T A 1: 125,800,161 (GRCm39) I304N probably damaging Het
Hdac7 G A 15: 97,707,410 (GRCm39) probably benign Het
Hipk1 T C 3: 103,685,480 (GRCm39) H45R probably benign Het
Hyal2 T C 9: 107,447,386 (GRCm39) L13P probably damaging Het
Kdm1b C T 13: 47,221,997 (GRCm39) R479W probably damaging Het
Lilrb4b A G 10: 51,357,517 (GRCm39) T118A probably damaging Het
Lin7a C A 10: 107,247,930 (GRCm39) F78L possibly damaging Het
Lpin3 A G 2: 160,737,310 (GRCm39) D119G possibly damaging Het
Lrp2 G A 2: 69,331,074 (GRCm39) R1661C probably damaging Het
Lrrc45 A G 11: 120,610,844 (GRCm39) K527E probably benign Het
Map10 C T 8: 126,397,611 (GRCm39) P335S probably benign Het
Mast3 A G 8: 71,244,955 (GRCm39) S2P possibly damaging Het
Mbtps1 A G 8: 120,268,808 (GRCm39) probably benign Het
Mms22l T A 4: 24,591,084 (GRCm39) N1018K probably benign Het
Nckipsd C A 9: 108,689,571 (GRCm39) A244D possibly damaging Het
Nt5el A T 13: 105,248,877 (GRCm39) R364* probably null Het
Or12k5 C A 2: 36,895,139 (GRCm39) L162F probably damaging Het
Or1j1 A T 2: 36,703,069 (GRCm39) F12I probably damaging Het
Or4k44 A G 2: 111,368,142 (GRCm39) V164A probably benign Het
Or52j3 T A 7: 102,836,421 (GRCm39) F204L probably benign Het
Or8b12c T A 9: 37,715,243 (GRCm39) I12N possibly damaging Het
Pcx A T 19: 4,652,251 (GRCm39) D112V probably damaging Het
Phf14 G A 6: 11,987,682 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,851,200 (GRCm39) I744T probably damaging Het
Ppip5k2 A G 1: 97,668,607 (GRCm39) L560P probably damaging Het
Psmd14 A T 2: 61,615,874 (GRCm39) M248L probably benign Het
Ryr1 T G 7: 28,782,962 (GRCm39) E1884A possibly damaging Het
Slc12a1 A T 2: 125,026,777 (GRCm39) M471L possibly damaging Het
Slc17a5 A G 9: 78,468,082 (GRCm39) V236A probably benign Het
Sobp T C 10: 42,897,720 (GRCm39) T622A probably damaging Het
Spata31d1a G T 13: 59,850,056 (GRCm39) R691S probably benign Het
Speg A G 1: 75,398,595 (GRCm39) E2014G probably damaging Het
Steap4 A G 5: 8,025,902 (GRCm39) probably benign Het
Tas2r144 G A 6: 42,192,537 (GRCm39) M92I probably benign Het
Tbc1d5 T C 17: 51,242,560 (GRCm39) Q179R probably benign Het
Tcf25 T C 8: 124,115,326 (GRCm39) Y188H probably benign Het
Tmem200a G A 10: 25,954,518 (GRCm39) probably benign Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Tssk5 T C 15: 76,256,409 (GRCm39) T337A probably benign Het
Ttc23 T C 7: 67,328,743 (GRCm39) V228A probably benign Het
Tulp1 A T 17: 28,581,645 (GRCm39) probably benign Het
Uqcc3 A G 19: 8,858,117 (GRCm39) F25L probably damaging Het
Vmn2r1 G A 3: 63,996,994 (GRCm39) G217S probably damaging Het
Vmn2r120 C T 17: 57,829,374 (GRCm39) E508K probably benign Het
Wdfy3 C A 5: 101,991,947 (GRCm39) V3451L probably benign Het
Wdr19 G A 5: 65,382,033 (GRCm39) V418I probably benign Het
Xirp2 C T 2: 67,338,383 (GRCm39) T208I probably benign Het
Xpnpep1 A G 19: 52,980,107 (GRCm39) V639A probably benign Het
Other mutations in Scn4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02563:Scn4b APN 9 45,057,980 (GRCm39) missense probably damaging 1.00
IGL03260:Scn4b APN 9 45,058,987 (GRCm39) missense probably damaging 1.00
R2341:Scn4b UTSW 9 45,059,127 (GRCm39) missense probably damaging 1.00
R4611:Scn4b UTSW 9 45,061,737 (GRCm39) missense probably damaging 1.00
R5119:Scn4b UTSW 9 45,059,056 (GRCm39) missense probably damaging 0.98
R7920:Scn4b UTSW 9 45,058,069 (GRCm39) missense probably damaging 0.99
R7993:Scn4b UTSW 9 45,059,007 (GRCm39) missense probably benign 0.01
R8352:Scn4b UTSW 9 45,058,039 (GRCm39) missense possibly damaging 0.67
R8452:Scn4b UTSW 9 45,058,039 (GRCm39) missense possibly damaging 0.67
R8906:Scn4b UTSW 9 45,059,169 (GRCm39) missense possibly damaging 0.87
R9157:Scn4b UTSW 9 45,058,013 (GRCm39) missense probably damaging 1.00
R9313:Scn4b UTSW 9 45,058,013 (GRCm39) missense probably damaging 1.00
R9716:Scn4b UTSW 9 45,060,639 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGGGTGACATGACCTCCTAGAACG -3'
(R):5'- GCACACATCTCAGATAGGACTTGGC -3'

Sequencing Primer
(F):5'- agggatgctgctaactgatac -3'
(R):5'- CATCTCAGATAGGACTTGGCATCAG -3'
Posted On 2014-04-13