Incidental Mutation 'IGL02071:Fam234b'
ID 185837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam234b
Ensembl Gene ENSMUSG00000030207
Gene Name family with sequence similarity 234, member B
Synonyms 8430419L09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL02071
Quality Score
Status
Chromosome 6
Chromosomal Location 135173881-135213240 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 135204149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111915] [ENSMUST00000111916]
AlphaFold Q8BYI8
Predicted Effect probably null
Transcript: ENSMUST00000111915
SMART Domains Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207

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 null
Transcript: ENSMUST00000111915
SMART Domains Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207

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 null
Transcript: ENSMUST00000111916
SMART Domains Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,400,676 (GRCm39) R92C probably damaging Het
Adam29 C A 8: 56,324,589 (GRCm39) V622L possibly damaging Het
Bzw2 T C 12: 36,157,502 (GRCm39) H321R probably benign Het
C2cd2 C T 16: 97,671,432 (GRCm39) R489Q probably damaging Het
Cdh23 G A 10: 60,359,339 (GRCm39) T253I possibly damaging Het
Col4a3 T G 1: 82,638,608 (GRCm39) probably null Het
D630039A03Rik T C 4: 57,910,309 (GRCm39) T168A possibly damaging Het
Dnajc19 A G 3: 34,132,914 (GRCm39) L97P possibly damaging Het
Dpep2 A T 8: 106,711,776 (GRCm39) H550Q probably benign Het
Dvl2 C A 11: 69,895,626 (GRCm39) probably null Het
Fxyd5 A G 7: 30,739,613 (GRCm39) V32A possibly damaging Het
Itprid1 C A 6: 55,944,710 (GRCm39) S477* probably null Het
Mak16 A T 8: 31,650,557 (GRCm39) S251T probably benign Het
Med10 T C 13: 69,963,747 (GRCm39) V116A probably benign Het
Mycbp2 G A 14: 103,392,343 (GRCm39) R50* probably null Het
Nckap5 G A 1: 125,909,305 (GRCm39) P272L probably damaging Het
Nf1 T A 11: 79,334,947 (GRCm39) V933E possibly damaging Het
Nrxn2 T A 19: 6,531,783 (GRCm39) V749E probably damaging Het
Or51e2 A C 7: 102,391,355 (GRCm39) V285G probably damaging Het
Or5al1 C A 2: 85,990,219 (GRCm39) R165L probably benign Het
Osbpl9 T C 4: 108,929,176 (GRCm39) Y417C probably damaging Het
Otop1 G A 5: 38,445,327 (GRCm39) A162T probably damaging Het
Patl1 C A 19: 11,917,054 (GRCm39) P634T probably damaging Het
Ppl A T 16: 4,930,936 (GRCm39) S28T probably benign Het
Prkar2b C T 12: 32,013,016 (GRCm39) G367R probably damaging Het
Rbl2 G A 8: 91,828,826 (GRCm39) V576I probably damaging Het
Rgl3 C T 9: 21,899,559 (GRCm39) A53T probably benign Het
Rp1 T A 1: 4,415,533 (GRCm39) I1860F possibly damaging Het
Sbno2 A T 10: 79,896,475 (GRCm39) D877E probably damaging Het
Sectm1b C T 11: 120,946,761 (GRCm39) V45I probably damaging Het
Sfmbt2 G A 2: 10,582,763 (GRCm39) V741I probably benign Het
Sugt1 T A 14: 79,847,723 (GRCm39) L191* probably null Het
Tcf21 A T 10: 22,693,709 (GRCm39) V156E possibly damaging Het
Tep1 T A 14: 51,071,506 (GRCm39) R2046S possibly damaging Het
Tmem181a T C 17: 6,347,531 (GRCm39) F241S probably damaging Het
Traf6 G A 2: 101,527,138 (GRCm39) C296Y probably benign Het
Trim40 A G 17: 37,200,070 (GRCm39) S3P probably benign Het
Ttll2 A T 17: 7,619,130 (GRCm39) Y266N probably damaging Het
Vps54 A G 11: 21,225,071 (GRCm39) N177S probably null 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
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
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
Posted On 2014-05-07