Incidental Mutation 'R0225:Fam234b'
ID 33849
Institutional Source Beutler Lab
Gene Symbol Fam234b
Ensembl Gene ENSMUSG00000030207
Gene Name family with sequence similarity 234, member B
Synonyms 8430419L09Rik
MMRRC Submission 038470-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0225 (G1)
Quality Score 180
Status Validated
Chromosome 6
Chromosomal Location 135173881-135213240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 135194072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 242 (S242A)
Ref Sequence ENSEMBL: ENSMUSP00000107547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916]
AlphaFold Q8BYI8
Predicted Effect possibly damaging
Transcript: ENSMUST00000111915
AA Change: S242A

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: S242A

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 possibly damaging
Transcript: ENSMUST00000111916
AA Change: S242A

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: S242A

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 0.2207 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,139,378 (GRCm39) L1470Q probably damaging Het
Abraxas2 G A 7: 132,476,584 (GRCm39) R105Q probably damaging Het
Arhgap23 G T 11: 97,335,154 (GRCm39) V70L probably benign Het
Bicd1 T C 6: 149,414,448 (GRCm39) I387T probably benign Het
Cd59b G A 2: 103,909,286 (GRCm39) probably null Het
Chn2 T C 6: 54,267,436 (GRCm39) probably benign Het
Col18a1 T C 10: 76,924,748 (GRCm39) S14G possibly damaging Het
Col5a2 A G 1: 45,446,195 (GRCm39) I461T probably benign Het
Dele1 G A 18: 38,394,317 (GRCm39) V505I probably benign Het
Dnlz T C 2: 26,241,380 (GRCm39) N116S probably damaging Het
Esyt2 A G 12: 116,331,330 (GRCm39) N736S probably damaging Het
F11 T C 8: 45,702,114 (GRCm39) T267A probably benign Het
Gadd45b A G 10: 80,766,181 (GRCm39) N11S probably benign Het
Garnl3 T C 2: 32,896,816 (GRCm39) T608A possibly damaging Het
Gata3 T C 2: 9,879,620 (GRCm39) T119A probably benign Het
Gm10647 A G 9: 66,705,777 (GRCm39) probably benign Het
Gm10936 G A 10: 117,084,035 (GRCm39) noncoding transcript Het
Gzmd A G 14: 56,367,161 (GRCm39) W244R probably damaging Het
Hdac2 T A 10: 36,865,180 (GRCm39) D131E probably benign Het
Hira T A 16: 18,774,921 (GRCm39) F949I probably benign Het
Ighv15-2 T G 12: 114,528,657 (GRCm39) probably benign Het
Il3 A G 11: 54,156,506 (GRCm39) probably null Het
Itgae A C 11: 73,002,168 (GRCm39) M91L probably benign Het
Jkampl A G 6: 73,446,402 (GRCm39) L49P possibly damaging Het
Kat2b A G 17: 53,948,238 (GRCm39) E336G probably damaging Het
Kctd21 T A 7: 96,997,298 (GRCm39) I257N probably benign Het
Kif23 C G 9: 61,832,976 (GRCm39) probably benign Het
Lgi3 A T 14: 70,770,261 (GRCm39) I109L probably benign Het
Lhx9 A T 1: 138,766,417 (GRCm39) C124S probably damaging Het
Lipo4 A G 19: 33,479,006 (GRCm39) V278A probably benign Het
Lrch3 T A 16: 32,782,124 (GRCm39) probably benign Het
Lrp1b T C 2: 40,486,995 (GRCm39) E142G probably damaging Het
Map9 G A 3: 82,267,290 (GRCm39) probably benign Het
Miox C T 15: 89,218,657 (GRCm39) probably benign Het
Mndal A T 1: 173,685,079 (GRCm39) probably benign Het
Mug2 G T 6: 122,051,673 (GRCm39) V952L possibly damaging Het
Nepn A T 10: 52,276,533 (GRCm39) T29S probably damaging Het
Or14a260 A G 7: 85,984,803 (GRCm39) I267T probably benign Het
Or4k5 T G 14: 50,386,092 (GRCm39) K80Q probably damaging Het
Or8d1b A G 9: 38,887,574 (GRCm39) I201V probably benign Het
Or8k53 T C 2: 86,178,072 (GRCm39) I13V possibly damaging Het
Phf3 A T 1: 30,844,146 (GRCm39) D1604E probably benign Het
Plekhn1 T C 4: 156,312,700 (GRCm39) R53G probably benign Het
Prickle1 A G 15: 93,408,658 (GRCm39) L47P possibly damaging Het
Ptar1 T A 19: 23,695,459 (GRCm39) C309S probably benign Het
Rapgef2 A T 3: 79,011,412 (GRCm39) S224R probably damaging Het
Rimoc1 T C 15: 4,015,776 (GRCm39) K263E probably damaging Het
Siglecg G A 7: 43,060,595 (GRCm39) G325D probably damaging Het
Skor2 A T 18: 76,946,793 (GRCm39) I172F unknown Het
Slc9a1 A G 4: 133,147,916 (GRCm39) K645E probably benign Het
St14 T A 9: 31,019,580 (GRCm39) probably null Het
Tas2r120 T A 6: 132,634,552 (GRCm39) Y211* probably null Het
Tbxa2r C A 10: 81,168,734 (GRCm39) T141K possibly damaging Het
Tpd52l1 A G 10: 31,255,252 (GRCm39) S32P probably damaging Het
Ttn T A 2: 76,540,468 (GRCm39) R34173W probably damaging Het
Ttn C A 2: 76,623,474 (GRCm39) V15368L possibly damaging Het
Tyms A G 5: 30,268,256 (GRCm39) I148T probably damaging Het
Vmn1r45 A T 6: 89,910,492 (GRCm39) Y159* probably null Het
Vmn1r58 A C 7: 5,413,865 (GRCm39) S122A probably benign Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Vps13b T C 15: 35,887,407 (GRCm39) I3272T probably benign Het
Wfdc8 A G 2: 164,439,105 (GRCm39) Y426H probably benign Het
Zfp948 A T 17: 21,807,556 (GRCm39) K249N probably damaging Het
Zfyve1 A G 12: 83,601,847 (GRCm39) probably benign Het
Zyg11a G A 4: 108,061,838 (GRCm39) T321I 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
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
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'- AGGTGTTGGCTCACAACCAACTG -3'
(R):5'- AAGGAGGTGACATGCTCTTGCCTG -3'

Sequencing Primer
(F):5'- GGCTCAAGATGTCACATGCT -3'
(R):5'- GTCTTATCACCAAACAGGTTGC -3'
Posted On 2013-05-09