Incidental Mutation 'IGL02009:Fam83b'
ID182291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam83b
Ensembl Gene ENSMUSG00000032358
Gene Namefamily with sequence similarity 83, member B
SynonymsC530008M07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02009
Quality Score
Status
Chromosome9
Chromosomal Location76490054-76567116 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76492322 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 500 (Y500H)
Ref Sequence ENSEMBL: ENSMUSP00000139354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098546] [ENSMUST00000183437]
Predicted Effect probably damaging
Transcript: ENSMUST00000098546
AA Change: Y500H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: Y500H

DomainStartEndE-ValueType
Pfam:DUF1669 12 282 5.6e-109 PFAM
Pfam:PLDc_2 139 277 2.4e-12 PFAM
low complexity region 557 574 N/A INTRINSIC
low complexity region 731 742 N/A INTRINSIC
low complexity region 747 760 N/A INTRINSIC
low complexity region 826 846 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183437
AA Change: Y500H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: Y500H

DomainStartEndE-ValueType
Pfam:DUF1669 7 283 2.8e-111 PFAM
Pfam:PLDc_2 139 277 2.4e-9 PFAM
low complexity region 557 574 N/A INTRINSIC
low complexity region 731 742 N/A INTRINSIC
low complexity region 747 760 N/A INTRINSIC
low complexity region 826 846 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik C T 5: 31,487,491 T196I probably benign Het
Aldh1a3 T C 7: 66,402,041 D388G probably benign Het
Ankhd1 C A 18: 36,624,661 Q803K probably damaging Het
Arrdc3 A G 13: 80,893,380 N180S probably benign Het
Atp11b G A 3: 35,814,152 E458K probably benign Het
Bend6 G A 1: 33,862,746 A185V probably benign Het
C530008M17Rik A G 5: 76,848,970 T92A possibly damaging Het
Chd5 A G 4: 152,366,213 D632G probably damaging Het
Clec4a1 A T 6: 122,932,216 H181L probably benign Het
Cntnap5a T A 1: 116,157,494 D387E probably benign Het
Colq G A 14: 31,535,642 S256F possibly damaging Het
Ctdp1 A G 18: 80,455,972 Y252H probably damaging Het
Cyp4f17 T A 17: 32,524,880 L344Q probably damaging Het
Gapvd1 G A 2: 34,704,191 P949L probably damaging Het
Gp5 A G 16: 30,309,664 I64T probably benign Het
Il31ra A G 13: 112,533,867 V248A probably damaging Het
Kdm4a C T 4: 118,160,169 A567T probably benign Het
Kpna7 T C 5: 144,994,078 probably null Het
Lrrc8c G A 5: 105,607,391 R344H probably damaging Het
Man1a G A 10: 53,925,525 L413F probably damaging Het
Man1a2 A T 3: 100,684,662 D67E probably damaging Het
Mkln1 G A 6: 31,449,520 S243N probably benign Het
Mmp19 T A 10: 128,798,487 M299K probably benign Het
Msantd2 T C 9: 37,523,390 F309L possibly damaging Het
Mstn A G 1: 53,062,150 probably benign Het
Nat8f5 A C 6: 85,817,426 I184R probably benign Het
Olfr1160 G T 2: 88,006,773 Q2K probably benign Het
Olfr1173 C T 2: 88,274,712 M112I probably benign Het
Pigc A G 1: 161,970,565 K39E probably damaging Het
Pms2 T A 5: 143,925,764 L563Q probably benign Het
Rpap1 A G 2: 119,780,113 S162P possibly damaging Het
Rpl3l A G 17: 24,732,433 K103E probably damaging Het
Slc45a1 A T 4: 150,637,990 V479E probably damaging Het
Themis2 A T 4: 132,785,442 L491Q probably damaging Het
Vmn2r17 A T 5: 109,452,848 I671L possibly damaging Het
Vmn2r6 C A 3: 64,537,902 V712L possibly damaging Het
Zzz3 A G 3: 152,428,115 D270G possibly damaging Het
Other mutations in Fam83b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Fam83b APN 9 76490978 missense probably benign 0.00
IGL01554:Fam83b APN 9 76502121 missense probably benign 0.33
IGL01694:Fam83b APN 9 76490990 missense probably benign 0.13
IGL02531:Fam83b APN 9 76492000 missense possibly damaging 0.61
IGL03328:Fam83b APN 9 76493042 missense probably benign 0.01
PIT4581001:Fam83b UTSW 9 76491152 missense probably damaging 1.00
R0110:Fam83b UTSW 9 76492826 missense possibly damaging 0.75
R0469:Fam83b UTSW 9 76492826 missense possibly damaging 0.75
R0510:Fam83b UTSW 9 76492826 missense possibly damaging 0.75
R0732:Fam83b UTSW 9 76492928 nonsense probably null
R0946:Fam83b UTSW 9 76491397 missense probably damaging 0.96
R0961:Fam83b UTSW 9 76491295 missense probably damaging 0.97
R1101:Fam83b UTSW 9 76545670 missense possibly damaging 0.68
R1200:Fam83b UTSW 9 76492312 missense probably damaging 1.00
R1248:Fam83b UTSW 9 76503076 missense probably benign 0.35
R1420:Fam83b UTSW 9 76492612 missense possibly damaging 0.94
R1429:Fam83b UTSW 9 76492577 missense probably benign
R1939:Fam83b UTSW 9 76493080 missense probably damaging 1.00
R1992:Fam83b UTSW 9 76492022 missense probably benign
R2102:Fam83b UTSW 9 76492705 missense probably damaging 0.96
R2134:Fam83b UTSW 9 76491016 missense probably damaging 1.00
R2398:Fam83b UTSW 9 76502218 missense probably damaging 1.00
R2878:Fam83b UTSW 9 76490810 missense probably damaging 1.00
R4092:Fam83b UTSW 9 76491661 missense probably benign 0.24
R4204:Fam83b UTSW 9 76503053 missense probably benign 0.09
R4537:Fam83b UTSW 9 76492142 missense probably benign 0.10
R4920:Fam83b UTSW 9 76491868 missense probably benign
R5456:Fam83b UTSW 9 76492595 missense probably benign
R5473:Fam83b UTSW 9 76491500 missense probably damaging 1.00
R5488:Fam83b UTSW 9 76545599 missense probably benign 0.05
R5489:Fam83b UTSW 9 76545599 missense probably benign 0.05
R5876:Fam83b UTSW 9 76491850 missense possibly damaging 0.92
R6150:Fam83b UTSW 9 76492357 missense probably damaging 1.00
R6374:Fam83b UTSW 9 76492907 missense probably benign 0.31
R6468:Fam83b UTSW 9 76502131 nonsense probably null
R6912:Fam83b UTSW 9 76490932 missense probably damaging 0.99
R7022:Fam83b UTSW 9 76502112 frame shift probably null
R7073:Fam83b UTSW 9 76545749 missense probably benign 0.18
R7356:Fam83b UTSW 9 76492853 missense probably benign 0.05
Posted On2014-05-07