Incidental Mutation 'R2350:Fam234b'
ID 246058
Institutional Source Beutler Lab
Gene Symbol Fam234b
Ensembl Gene ENSMUSG00000030207
Gene Name family with sequence similarity 234, member B
Synonyms 8430419L09Rik
MMRRC Submission 040332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R2350 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 135173881-135213240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135208722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 545 (V545E)
Ref Sequence ENSEMBL: ENSMUSP00000107547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916]
AlphaFold Q8BYI8
Predicted Effect probably damaging
Transcript: ENSMUST00000111915
AA Change: V545E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: V545E

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 damaging
Transcript: ENSMUST00000111916
AA Change: V545E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: V545E

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 noncoding transcript
Transcript: ENSMUST00000151951
Meta Mutation Damage Score 0.8785 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,655,047 (GRCm39) probably benign Het
Adam12 T C 7: 133,521,253 (GRCm39) T312A probably damaging Het
Adamts20 C T 15: 94,181,797 (GRCm39) C1632Y probably damaging Het
Ago2 T C 15: 72,991,310 (GRCm39) M543V probably benign Het
Alpk3 T C 7: 80,744,718 (GRCm39) L1271P probably damaging Het
Arpin T A 7: 79,581,553 (GRCm39) K56* probably null Het
Ccdc138 G T 10: 58,397,715 (GRCm39) probably benign Het
Ccdc63 A T 5: 122,260,948 (GRCm39) M192K probably benign Het
Cldn12 A T 5: 5,557,845 (GRCm39) V194D possibly damaging Het
Cntnap5b T C 1: 100,306,851 (GRCm39) L485P probably damaging Het
Cpne7 A G 8: 123,851,208 (GRCm39) D165G probably damaging Het
Cyp2j6 A T 4: 96,417,645 (GRCm39) M326K probably damaging Het
D630003M21Rik T A 2: 158,042,931 (GRCm39) T870S probably damaging Het
Dennd2c A G 3: 103,039,317 (GRCm39) D155G probably benign Het
Dnah3 A T 7: 119,645,011 (GRCm39) probably null Het
Dqx1 T A 6: 83,036,068 (GRCm39) C133* probably null Het
Flcn T C 11: 59,683,485 (GRCm39) H564R probably damaging Het
Gsdmc4 T A 15: 63,765,014 (GRCm39) H348L probably benign Het
Gucy2c G T 6: 136,740,072 (GRCm39) P252T probably damaging Het
Insl6 T A 19: 29,302,645 (GRCm39) E24V possibly damaging Het
Irx1 T A 13: 72,108,167 (GRCm39) T172S probably damaging Het
Mocos C T 18: 24,799,713 (GRCm39) probably benign Het
Myom2 T C 8: 15,158,835 (GRCm39) V837A probably benign Het
Nfatc2ip T C 7: 125,995,170 (GRCm39) N126S probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Npepl1 T C 2: 173,953,566 (GRCm39) S166P probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d11 G T 9: 19,966,384 (GRCm39) A125D probably damaging Het
Otop2 T G 11: 115,217,676 (GRCm39) C171G probably damaging Het
Parpbp C A 10: 87,968,950 (GRCm39) probably benign Het
Pcdhb20 T A 18: 37,637,563 (GRCm39) S30T probably benign Het
Phkg1 A T 5: 129,893,373 (GRCm39) V359E probably damaging Het
Ppp2cb A G 8: 34,101,855 (GRCm39) D131G probably null Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Unc5b A G 10: 60,613,979 (GRCm39) F290S probably benign Het
Vmn1r71 A G 7: 10,481,846 (GRCm39) F215L probably benign Het
Vmn2r101 T C 17: 19,810,045 (GRCm39) V277A probably benign Het
Vmn2r6 T C 3: 64,463,773 (GRCm39) S354G probably benign Het
Zfp292 A T 4: 34,811,281 (GRCm39) S588T probably damaging Het
Other mutations in Fam234b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Fam234b APN 6 135,202,202 (GRCm39) missense probably damaging 1.00
IGL01020:Fam234b APN 6 135,188,904 (GRCm39) missense probably benign 0.13
IGL01731:Fam234b APN 6 135,188,903 (GRCm39) missense possibly damaging 0.90
IGL01994:Fam234b APN 6 135,202,203 (GRCm39) nonsense probably null
IGL02010:Fam234b APN 6 135,186,405 (GRCm39) missense probably benign 0.17
IGL02071:Fam234b APN 6 135,204,149 (GRCm39) critical splice acceptor site probably null
IGL02340:Fam234b APN 6 135,208,659 (GRCm39) missense probably damaging 1.00
IGL02869:Fam234b APN 6 135,202,201 (GRCm39) missense probably damaging 1.00
R0076:Fam234b UTSW 6 135,204,224 (GRCm39) missense probably benign 0.00
R0076:Fam234b UTSW 6 135,204,224 (GRCm39) missense probably benign 0.00
R0123:Fam234b UTSW 6 135,194,072 (GRCm39) missense possibly damaging 0.46
R0127:Fam234b UTSW 6 135,195,821 (GRCm39) splice site probably benign
R0225:Fam234b UTSW 6 135,194,072 (GRCm39) missense possibly damaging 0.46
R0570:Fam234b UTSW 6 135,186,247 (GRCm39) missense probably benign 0.00
R0705:Fam234b UTSW 6 135,204,213 (GRCm39) missense probably benign 0.11
R1140:Fam234b UTSW 6 135,202,756 (GRCm39) missense probably benign 0.00
R1446:Fam234b UTSW 6 135,186,328 (GRCm39) splice site probably null
R1464:Fam234b UTSW 6 135,205,490 (GRCm39) missense probably benign 0.00
R1464:Fam234b UTSW 6 135,205,490 (GRCm39) missense probably benign 0.00
R2044:Fam234b UTSW 6 135,203,912 (GRCm39) missense probably benign 0.04
R3914:Fam234b UTSW 6 135,202,681 (GRCm39) missense probably damaging 1.00
R4261:Fam234b UTSW 6 135,186,134 (GRCm39) missense unknown
R5102:Fam234b UTSW 6 135,186,282 (GRCm39) missense probably benign 0.03
R5133:Fam234b UTSW 6 135,186,193 (GRCm39) missense probably benign 0.01
R5313:Fam234b UTSW 6 135,186,185 (GRCm39) missense possibly damaging 0.56
R5375:Fam234b UTSW 6 135,210,355 (GRCm39) missense probably damaging 1.00
R5418:Fam234b UTSW 6 135,203,966 (GRCm39) missense probably benign 0.00
R5838:Fam234b UTSW 6 135,202,265 (GRCm39) missense probably benign 0.00
R5953:Fam234b UTSW 6 135,202,705 (GRCm39) missense possibly damaging 0.95
R6737:Fam234b UTSW 6 135,205,513 (GRCm39) missense probably damaging 0.99
R7056:Fam234b UTSW 6 135,205,450 (GRCm39) missense probably benign 0.32
R7221:Fam234b UTSW 6 135,205,529 (GRCm39) missense probably damaging 1.00
R7418:Fam234b UTSW 6 135,194,009 (GRCm39) missense probably benign 0.04
R7459:Fam234b UTSW 6 135,188,899 (GRCm39) missense probably benign 0.04
R7599:Fam234b UTSW 6 135,203,874 (GRCm39) missense probably damaging 1.00
R7602:Fam234b UTSW 6 135,202,241 (GRCm39) missense possibly damaging 0.79
R7639:Fam234b UTSW 6 135,202,798 (GRCm39) splice site probably null
R7748:Fam234b UTSW 6 135,186,349 (GRCm39) missense probably damaging 1.00
R7773:Fam234b UTSW 6 135,220,912 (GRCm39) missense probably benign 0.01
R8544:Fam234b UTSW 6 135,210,287 (GRCm39) missense probably damaging 1.00
R9324:Fam234b UTSW 6 135,202,793 (GRCm39) nonsense probably null
R9733:Fam234b UTSW 6 135,194,008 (GRCm39) missense possibly damaging 0.50
Z1177:Fam234b UTSW 6 135,175,006 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATCGTATGGTCCCTGTAGCTG -3'
(R):5'- GTATTCTCACCCCAGAACTCCG -3'

Sequencing Primer
(F):5'- TGGCCGGAACTTTGCTC -3'
(R):5'- TCCGAGAAAGCTCCCCAG -3'
Posted On 2014-10-30