Incidental Mutation 'IGL01994:Fam234b'
ID183603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam234b
Ensembl Gene ENSMUSG00000030207
Gene Namefamily with sequence similarity 234, member B
Synonyms8430419L09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL01994
Quality Score
Status
Chromosome6
Chromosomal Location135197977-135244955 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 135225205 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 308 (Y308*)
Ref Sequence ENSEMBL: ENSMUSP00000107547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916]
Predicted Effect probably null
Transcript: ENSMUST00000111915
AA Change: Y308*
SMART Domains Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: Y308*

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
AA Change: Y308*
SMART Domains Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: Y308*

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,290,677 Y418N probably benign Het
Adam15 T C 3: 89,341,505 probably benign Het
Adam32 C A 8: 24,902,796 probably benign Het
Adamts12 T A 15: 11,345,594 C1574S probably damaging Het
Adck1 T C 12: 88,431,156 S187P possibly damaging Het
Atp13a3 A G 16: 30,337,518 V949A possibly damaging Het
Atxn3 T C 12: 101,942,180 T138A probably benign Het
Atxn7l2 C T 3: 108,203,543 R559Q probably damaging Het
Bicra G T 7: 15,972,816 S1233R possibly damaging Het
Cacybp G T 1: 160,206,636 N101K probably damaging Het
Cops7b T C 1: 86,601,106 L185P probably damaging Het
Cttnbp2 T C 6: 18,420,815 D899G possibly damaging Het
Cyp4f37 C T 17: 32,625,176 R85* probably null Het
Dnah3 T G 7: 119,951,214 N3294T possibly damaging Het
Elmo1 T A 13: 20,342,464 Y395N probably damaging Het
Fam43a A G 16: 30,600,663 K22E probably damaging Het
Fcer2a T C 8: 3,688,302 N123D possibly damaging Het
Gm11595 A G 11: 99,772,201 C218R unknown Het
Gria4 T C 9: 4,537,726 Y194C probably damaging Het
Grin2d T C 7: 45,857,972 E435G probably damaging Het
Hectd1 T C 12: 51,797,942 E506G probably damaging Het
Htt G A 5: 34,832,604 S1160N possibly damaging Het
Ift140 A G 17: 25,048,443 E605G probably damaging Het
Il17re T C 6: 113,468,450 V374A probably benign Het
Ippk A G 13: 49,458,617 Q439R possibly damaging Het
Itgam G A 7: 128,101,727 V530M probably damaging Het
Kirrel3 A G 9: 35,020,133 H47R possibly damaging Het
Klk1b24 A T 7: 44,191,633 I162F probably damaging Het
Lama1 A T 17: 67,752,439 T606S probably benign Het
Lama2 C T 10: 27,467,203 probably null Het
Lrp2 A G 2: 69,483,601 I2262T probably benign Het
Mamdc4 A T 2: 25,568,534 I317N possibly damaging Het
Mtmr3 G T 11: 4,487,938 H839N probably benign Het
Ncr1 G T 7: 4,341,254 V177F probably benign Het
Nop58 T C 1: 59,704,083 S219P probably damaging Het
Nrg3 T C 14: 39,012,086 Y281C probably damaging Het
Nsf A G 11: 103,928,782 S54P probably damaging Het
Olfr421-ps1 T A 1: 174,151,536 S7T probably benign Het
Olfr687 A T 7: 105,275,946 noncoding transcript Het
Plxnc1 T C 10: 94,849,939 K730R probably damaging Het
Polr2g A T 19: 8,794,376 probably benign Het
Rps13 A G 7: 116,333,690 probably benign Het
Scgb2b7 A G 7: 31,703,984 I99T probably benign Het
Slc22a27 G T 19: 7,909,743 H260Q possibly damaging Het
Spata18 G T 5: 73,657,601 probably null Het
Tns2 A G 15: 102,111,379 E560G possibly damaging Het
Trbv16 T C 6: 41,151,781 probably benign Het
Ubr3 T A 2: 70,021,176 I1829N probably damaging Het
Vcl C T 14: 21,003,243 T442I probably damaging Het
Vmn2r102 T A 17: 19,660,469 I24N probably benign Het
Vmn2r114 T C 17: 23,310,477 D217G probably damaging Het
Vmn2r58 A G 7: 41,836,970 Y834H probably damaging Het
Zdhhc8 G T 16: 18,227,772 probably benign Het
Other mutations in Fam234b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Fam234b APN 6 135225204 missense probably damaging 1.00
IGL01020:Fam234b APN 6 135211906 missense probably benign 0.13
IGL01731:Fam234b APN 6 135211905 missense possibly damaging 0.90
IGL02010:Fam234b APN 6 135209407 missense probably benign 0.17
IGL02071:Fam234b APN 6 135227151 critical splice acceptor site probably null
IGL02340:Fam234b APN 6 135231661 missense probably damaging 1.00
IGL02869:Fam234b APN 6 135225203 missense probably damaging 1.00
R0076:Fam234b UTSW 6 135227226 missense probably benign 0.00
R0076:Fam234b UTSW 6 135227226 missense probably benign 0.00
R0123:Fam234b UTSW 6 135217074 missense possibly damaging 0.46
R0127:Fam234b UTSW 6 135218823 splice site probably benign
R0225:Fam234b UTSW 6 135217074 missense possibly damaging 0.46
R0570:Fam234b UTSW 6 135209249 missense probably benign 0.00
R0705:Fam234b UTSW 6 135227215 missense probably benign 0.11
R1140:Fam234b UTSW 6 135225758 missense probably benign 0.00
R1446:Fam234b UTSW 6 135209330 unclassified probably null
R1464:Fam234b UTSW 6 135228492 missense probably benign 0.00
R1464:Fam234b UTSW 6 135228492 missense probably benign 0.00
R2044:Fam234b UTSW 6 135226914 missense probably benign 0.04
R2350:Fam234b UTSW 6 135231724 missense probably damaging 1.00
R3914:Fam234b UTSW 6 135225683 missense probably damaging 1.00
R4261:Fam234b UTSW 6 135209136 missense unknown
R5102:Fam234b UTSW 6 135209284 missense probably benign 0.03
R5133:Fam234b UTSW 6 135209195 missense probably benign 0.01
R5313:Fam234b UTSW 6 135209187 missense possibly damaging 0.56
R5375:Fam234b UTSW 6 135233357 missense probably damaging 1.00
R5418:Fam234b UTSW 6 135226968 missense probably benign 0.00
R5838:Fam234b UTSW 6 135225267 missense probably benign 0.00
R5953:Fam234b UTSW 6 135225707 missense possibly damaging 0.95
R6737:Fam234b UTSW 6 135228515 missense probably damaging 0.99
R7056:Fam234b UTSW 6 135228452 missense probably benign 0.32
R7221:Fam234b UTSW 6 135228531 missense probably damaging 1.00
R7418:Fam234b UTSW 6 135217011 missense probably benign 0.04
R7459:Fam234b UTSW 6 135211901 missense probably benign 0.04
R7599:Fam234b UTSW 6 135226876 missense probably damaging 1.00
R7602:Fam234b UTSW 6 135225243 missense possibly damaging 0.79
R7639:Fam234b UTSW 6 135225800 splice site probably null
R7748:Fam234b UTSW 6 135209351 missense probably damaging 1.00
R7773:Fam234b UTSW 6 135243914 missense probably benign 0.01
Z1177:Fam234b UTSW 6 135198008 unclassified probably benign
Posted On2014-05-07