Incidental Mutation 'R0705:Fam234b'
ID 63114
Institutional Source Beutler Lab
Gene Symbol Fam234b
Ensembl Gene ENSMUSG00000030207
Gene Name family with sequence similarity 234, member B
Synonyms 8430419L09Rik
MMRRC Submission 038888-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0705 (G1)
Quality Score 124
Status Not validated
Chromosome 6
Chromosomal Location 135173881-135213240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135204213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 452 (D452V)
Ref Sequence ENSEMBL: ENSMUSP00000107547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916]
AlphaFold Q8BYI8
Predicted Effect probably benign
Transcript: ENSMUST00000111915
AA Change: D452V

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: D452V

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: D452V

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: D452V

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic4 G T 1: 75,428,014 (GRCm39) C180F probably damaging Het
Ccdc106 G A 7: 5,062,539 (GRCm39) D11N possibly damaging Het
Crebbp A C 16: 3,972,874 (GRCm39) S273R possibly damaging Het
Dpy19l3 T A 7: 35,394,741 (GRCm39) Y599F probably damaging Het
Ecpas A T 4: 58,885,366 (GRCm39) probably null Het
Fbxw22 G T 9: 109,232,164 (GRCm39) H78N possibly damaging Het
Hpgd T C 8: 56,748,074 (GRCm39) V65A probably damaging Het
Impg1 A T 9: 80,287,261 (GRCm39) L395Q probably damaging Het
Kcnq5 A G 1: 21,605,401 (GRCm39) M168T probably damaging Het
Spink5 T A 18: 44,125,341 (GRCm39) M403K probably benign Het
Ssxb9 T G X: 8,238,022 (GRCm39) S130R 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
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
R2350:Fam234b UTSW 6 135,208,722 (GRCm39) missense probably damaging 1.00
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'- GCTGCTGTTCTGAGCAACTTTCCTG -3'
(R):5'- TGTACGGTGATTCCTCCCACCTAAC -3'

Sequencing Primer
(F):5'- AACTGCTTGTTACCGTGGCT -3'
(R):5'- CTAACTGGAAGTATAGGCTCCC -3'
Posted On 2013-07-30