Incidental Mutation 'R3914:Fam234b'
ID 309555
Institutional Source Beutler Lab
Gene Symbol Fam234b
Ensembl Gene ENSMUSG00000030207
Gene Name family with sequence similarity 234, member B
Synonyms 8430419L09Rik
MMRRC Submission 040912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R3914 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 135173881-135213240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135202681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 345 (D345G)
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: D345G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: D345G

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: D345G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: D345G

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
Meta Mutation Damage Score 0.2315 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b2 A T 3: 89,861,755 (GRCm39) I266N probably damaging Het
AU041133 G A 10: 81,987,649 (GRCm39) R434Q probably damaging Het
Ccdc174 G T 6: 91,876,338 (GRCm39) A392S possibly damaging Het
Cdh18 T C 15: 23,410,771 (GRCm39) Y419H probably damaging Het
Col20a1 A G 2: 180,640,285 (GRCm39) K509R probably benign Het
Csmd2 A T 4: 128,215,117 (GRCm39) D513V probably benign Het
Disp1 A G 1: 182,870,666 (GRCm39) F585L probably benign Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Exoc1 G A 5: 76,691,408 (GRCm39) S244N possibly damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gprc6a T A 10: 51,504,371 (GRCm39) M158L probably benign Het
Hdc T C 2: 126,444,926 (GRCm39) T255A probably damaging Het
Hps5 T C 7: 46,432,950 (GRCm39) T257A probably damaging Het
Ice1 A G 13: 70,754,203 (GRCm39) C628R probably benign Het
Igkv2-137 A T 6: 67,532,968 (GRCm39) R44W probably damaging Het
Islr2 A T 9: 58,105,666 (GRCm39) Y531* probably null Het
Mast4 G A 13: 102,875,829 (GRCm39) R1112* probably null Het
Mrc2 T C 11: 105,238,058 (GRCm39) probably benign Het
Myo19 G A 11: 84,785,429 (GRCm39) R224H probably damaging Het
Nup58 A G 14: 60,469,596 (GRCm39) M375T possibly damaging Het
Phaf1 A G 8: 105,966,615 (GRCm39) N121D probably benign Het
Phldb2 T C 16: 45,577,526 (GRCm39) E1133G probably damaging Het
Rabl6 T C 2: 25,478,718 (GRCm39) T238A possibly damaging Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Riok3 A G 18: 12,281,879 (GRCm39) I283V probably benign Het
Rrm1 A G 7: 102,106,381 (GRCm39) Y300C probably damaging Het
Shoc1 T A 4: 59,094,201 (GRCm39) R174S possibly damaging Het
Sipa1l3 T C 7: 29,099,510 (GRCm39) D253G probably benign Het
Slc22a8 T A 19: 8,585,550 (GRCm39) I305N probably damaging Het
Slc26a3 A T 12: 31,503,905 (GRCm39) E303D probably benign Het
Slc32a1 C T 2: 158,453,152 (GRCm39) probably benign Het
Tars3 C A 7: 65,333,556 (GRCm39) Q585K probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ubqlnl A G 7: 103,798,813 (GRCm39) V228A probably benign Het
Wnt7b T A 15: 85,422,059 (GRCm39) D201V possibly damaging Het
Xpot A T 10: 121,440,443 (GRCm39) I596N possibly 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
R2350:Fam234b UTSW 6 135,208,722 (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'- AGCTTTCCCTTGATGTGGTC -3'
(R):5'- CGTGGTGTATGAGTCTCCAGAG -3'

Sequencing Primer
(F):5'- GGACTGCCCACATCACTTG -3'
(R):5'- TGTATGAGTCTCCAGAGGACCTC -3'
Posted On 2015-04-17