Incidental Mutation 'IGL01020:Fam234b'
ID53630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam234b
Ensembl Gene ENSMUSG00000030207
Gene Namefamily with sequence similarity 234, member B
Synonyms8430419L09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL01020
Quality Score
Status
Chromosome6
Chromosomal Location135197977-135244955 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 135211906 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 170 (V170M)
Ref Sequence ENSEMBL: ENSMUSP00000107547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916] [ENSMUST00000130612] [ENSMUST00000151071]
Predicted Effect probably benign
Transcript: ENSMUST00000111915
AA Change: V170M

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: V170M

DomainStartEndE-ValueType
transmembrane domain 105 127 N/A INTRINSIC
low complexity region 500 517 N/A INTRINSIC
low complexity region 521 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111916
AA Change: V170M

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: V170M

DomainStartEndE-ValueType
transmembrane domain 105 127 N/A INTRINSIC
low complexity region 500 517 N/A INTRINSIC
low complexity region 521 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130612
Predicted Effect probably benign
Transcript: ENSMUST00000151071
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 T G 1: 177,130,967 probably benign Het
Aldh18a1 C T 19: 40,569,181 probably benign Het
Arhgap32 A G 9: 32,257,361 H880R probably benign Het
Arhgef7 G A 8: 11,782,540 S5N probably damaging Het
Atp6v1e1 T C 6: 120,808,411 M40V possibly damaging Het
Atr T C 9: 95,862,783 V51A probably damaging Het
Atxn10 A G 15: 85,375,422 probably null Het
Btbd16 T A 7: 130,824,361 I502N probably damaging Het
Casc4 G A 2: 121,925,722 V411I probably benign Het
Celsr2 G T 3: 108,403,270 L1499M probably damaging Het
Cfl1 C T 19: 5,493,681 probably benign Het
Cul9 T C 17: 46,539,023 E500G probably damaging Het
Dusp3 G T 11: 101,984,644 N31K probably benign Het
Erbb4 A T 1: 68,298,449 probably benign Het
Fign A G 2: 63,979,010 S639P probably damaging Het
Gbp7 A G 3: 142,542,857 T294A probably benign Het
Ift80 C T 3: 68,963,679 D195N probably damaging Het
Kif21b G T 1: 136,154,094 probably benign Het
Kif2c A T 4: 117,166,904 F397I probably damaging Het
Lamc3 T C 2: 31,914,656 V567A probably benign Het
Letmd1 T C 15: 100,471,759 M36T probably damaging Het
Lrp1b A G 2: 40,998,247 W2220R probably damaging Het
Mical2 T A 7: 112,315,076 probably benign Het
Mtif2 A G 11: 29,544,973 D691G possibly damaging Het
Myh8 G A 11: 67,283,403 V189M probably damaging Het
Myo9b G A 8: 71,352,000 R1418K probably benign Het
Nkpd1 G A 7: 19,518,749 V7M possibly damaging Het
Nrxn2 G A 19: 6,493,443 V1116I probably benign Het
Nynrin A G 14: 55,868,448 M875V probably benign Het
Oat T C 7: 132,567,173 probably null Het
Olfr855 G A 9: 19,585,320 S261N possibly damaging Het
Olfr938 A C 9: 39,078,451 I98R probably damaging Het
Prkaa2 C T 4: 105,075,462 R63Q probably damaging Het
Psg29 T A 7: 17,208,732 S219R probably benign Het
Ptprc T C 1: 138,120,173 probably null Het
Pwwp2b G T 7: 139,254,855 E71* probably null Het
Robo2 T C 16: 73,928,151 T1055A probably benign Het
Serpina9 T A 12: 104,008,586 N103Y probably damaging Het
Sis T C 3: 72,966,838 E10G probably damaging Het
Tbck C T 3: 132,727,142 Q438* probably null Het
Thnsl1 T C 2: 21,212,494 L353S probably damaging Het
Tmem237 C A 1: 59,107,453 probably null Het
Tuba3a C T 6: 125,281,340 R229H probably damaging Het
Zbtb2 A G 10: 4,369,702 I108T probably benign Het
Zfp345 T C 2: 150,473,047 N190S possibly damaging Het
Other mutations in Fam234b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Fam234b APN 6 135225204 missense probably damaging 1.00
IGL01731:Fam234b APN 6 135211905 missense possibly damaging 0.90
IGL01994:Fam234b APN 6 135225205 nonsense probably null
IGL02010:Fam234b APN 6 135209407 missense probably benign 0.17
IGL02071:Fam234b APN 6 135227151 critical splice acceptor site probably null
IGL02340:Fam234b APN 6 135231661 missense probably damaging 1.00
IGL02869:Fam234b APN 6 135225203 missense probably damaging 1.00
R0076:Fam234b UTSW 6 135227226 missense probably benign 0.00
R0076:Fam234b UTSW 6 135227226 missense probably benign 0.00
R0123:Fam234b UTSW 6 135217074 missense possibly damaging 0.46
R0127:Fam234b UTSW 6 135218823 splice site probably benign
R0225:Fam234b UTSW 6 135217074 missense possibly damaging 0.46
R0570:Fam234b UTSW 6 135209249 missense probably benign 0.00
R0705:Fam234b UTSW 6 135227215 missense probably benign 0.11
R1140:Fam234b UTSW 6 135225758 missense probably benign 0.00
R1446:Fam234b UTSW 6 135209330 unclassified probably null
R1464:Fam234b UTSW 6 135228492 missense probably benign 0.00
R1464:Fam234b UTSW 6 135228492 missense probably benign 0.00
R2044:Fam234b UTSW 6 135226914 missense probably benign 0.04
R2350:Fam234b UTSW 6 135231724 missense probably damaging 1.00
R3914:Fam234b UTSW 6 135225683 missense probably damaging 1.00
R4261:Fam234b UTSW 6 135209136 missense unknown
R5102:Fam234b UTSW 6 135209284 missense probably benign 0.03
R5133:Fam234b UTSW 6 135209195 missense probably benign 0.01
R5313:Fam234b UTSW 6 135209187 missense possibly damaging 0.56
R5375:Fam234b UTSW 6 135233357 missense probably damaging 1.00
R5418:Fam234b UTSW 6 135226968 missense probably benign 0.00
R5838:Fam234b UTSW 6 135225267 missense probably benign 0.00
R5953:Fam234b UTSW 6 135225707 missense possibly damaging 0.95
R6737:Fam234b UTSW 6 135228515 missense probably damaging 0.99
R7056:Fam234b UTSW 6 135228452 missense probably benign 0.32
R7221:Fam234b UTSW 6 135228531 missense probably damaging 1.00
R7418:Fam234b UTSW 6 135217011 missense probably benign 0.04
R7459:Fam234b UTSW 6 135211901 missense probably benign 0.04
R7599:Fam234b UTSW 6 135226876 missense probably damaging 1.00
R7602:Fam234b UTSW 6 135225243 missense possibly damaging 0.79
R7639:Fam234b UTSW 6 135225800 splice site probably null
R7748:Fam234b UTSW 6 135209351 missense probably damaging 1.00
R7773:Fam234b UTSW 6 135243914 missense probably benign 0.01
Z1177:Fam234b UTSW 6 135198008 unclassified probably benign
Posted On2013-06-28