Incidental Mutation 'R4432:Fam92b'
ID328658
Institutional Source Beutler Lab
Gene Symbol Fam92b
Ensembl Gene ENSMUSG00000042269
Gene Namefamily with sequence similarity 92, member B
Synonyms
MMRRC Submission 041701-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.848) question?
Stock #R4432 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location120166397-120177466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 120174855 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 37 (R37L)
Ref Sequence ENSEMBL: ENSMUSP00000038825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048786] [ENSMUST00000127664] [ENSMUST00000135567]
Predicted Effect probably damaging
Transcript: ENSMUST00000048786
AA Change: R37L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038825
Gene: ENSMUSG00000042269
AA Change: R37L

DomainStartEndE-ValueType
Pfam:FAM92 1 217 4.8e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135567
AA Change: R37L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134033
Gene: ENSMUSG00000042269
AA Change: R37L

DomainStartEndE-ValueType
Pfam:FAM92 1 95 2e-21 PFAM
low complexity region 98 108 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153177
Meta Mutation Damage Score 0.4244 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A T 8: 36,498,478 I51F probably damaging Het
Abca6 T C 11: 110,241,588 M294V probably benign Het
Abcc5 A T 16: 20,368,187 probably null Het
Acsm4 A C 7: 119,711,387 E499A probably damaging Het
Adamtsl4 T C 3: 95,681,759 probably null Het
Ank2 A T 3: 126,947,806 probably benign Het
Anks6 G A 4: 47,044,905 Q334* probably null Het
Cadps2 T A 6: 23,626,738 I155L probably damaging Het
Casp4 G A 9: 5,323,653 R74H probably damaging Het
Cdk14 A G 5: 5,036,427 W298R probably damaging Het
Chia1 A G 3: 106,115,325 N12D probably benign Het
Cyp3a59 A G 5: 146,104,786 D380G probably benign Het
Dnm2 T C 9: 21,491,304 probably benign Het
Dnm3 T C 1: 161,991,997 probably benign Het
Dpp4 A G 2: 62,345,112 Y660H probably damaging Het
H6pd T G 4: 149,995,758 Y202S probably damaging Het
Hnrnpa0 T C 13: 58,127,937 K126R probably benign Het
Insc C T 7: 114,769,055 probably benign Het
Lrrc45 G A 11: 120,715,221 probably null Het
Mapkap1 T C 2: 34,619,863 L263P probably damaging Het
Nmur1 A G 1: 86,387,565 S160P probably damaging Het
Olfr1254 A T 2: 89,788,734 M206K possibly damaging Het
Olfr1288 T A 2: 111,479,412 C209* probably null Het
Pcdhb15 A G 18: 37,475,512 N599S probably damaging Het
Pcid2 T C 8: 13,085,421 D196G probably damaging Het
Pcolce2 T C 9: 95,681,557 F199L probably damaging Het
Phf11c A T 14: 59,390,935 N88K possibly damaging Het
Prl8a8 T A 13: 27,510,480 Y109F probably benign Het
Rasa2 A G 9: 96,542,407 probably benign Het
Samhd1 T C 2: 157,104,893 D558G probably damaging Het
Slc1a1 T C 19: 28,902,709 F263S probably benign Het
Slc27a3 G A 3: 90,387,340 T408M probably damaging Het
Slc4a7 T A 14: 14,757,323 N520K probably damaging Het
Szt2 A G 4: 118,384,231 S1679P probably damaging Het
Vmn1r218 T C 13: 23,137,242 F173S possibly damaging Het
Vmn2r32 T A 7: 7,479,919 N19Y probably damaging Het
Other mutations in Fam92b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Fam92b APN 8 120166690 missense probably benign 0.00
IGL02045:Fam92b APN 8 120169722 nonsense probably null
IGL02437:Fam92b APN 8 120174786 missense probably damaging 1.00
IGL02796:Fam92b UTSW 8 120177399 utr 5 prime probably benign
R1061:Fam92b UTSW 8 120169704 critical splice donor site probably null
R2285:Fam92b UTSW 8 120168537 missense probably benign 0.01
R3714:Fam92b UTSW 8 120174837 missense probably damaging 1.00
R3831:Fam92b UTSW 8 120174894 missense probably damaging 1.00
R5431:Fam92b UTSW 8 120167303 critical splice donor site probably null
R6280:Fam92b UTSW 8 120172119 missense possibly damaging 0.75
R7026:Fam92b UTSW 8 120168585 missense probably damaging 1.00
R7233:Fam92b UTSW 8 120171922 missense probably damaging 1.00
R7278:Fam92b UTSW 8 120168603 missense possibly damaging 0.63
R7334:Fam92b UTSW 8 120174850 missense probably damaging 0.99
R7840:Fam92b UTSW 8 120166633 missense probably benign 0.32
R7923:Fam92b UTSW 8 120166633 missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- TCTACCCTGTCACCAGCATG -3'
(R):5'- ACAAGTGTCAAGTGCTTGCC -3'

Sequencing Primer
(F):5'- ACCAGCATGACCACGAGGG -3'
(R):5'- GTGTCAAGTGCTTGCCCACTG -3'
Posted On2015-07-21