Incidental Mutation 'R0961:Fam83b'
ID 81889
Institutional Source Beutler Lab
Gene Symbol Fam83b
Ensembl Gene ENSMUSG00000032358
Gene Name family with sequence similarity 83, member B
Synonyms C530008M07Rik
MMRRC Submission 039090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R0961 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 76397336-76474398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76398577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 842 (I842N)
Ref Sequence ENSEMBL: ENSMUSP00000139354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098546] [ENSMUST00000183437]
AlphaFold Q0VBM2
Predicted Effect probably damaging
Transcript: ENSMUST00000098546
AA Change: I842N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: I842N

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: I842N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: I842N

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
Meta Mutation Damage Score 0.1232 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.6%
  • 20x: 89.7%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,686 (GRCm39) S331A probably benign Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4933412E24Rik T C 15: 59,887,160 (GRCm39) I427V probably benign Het
Abca15 A T 7: 119,960,208 (GRCm39) K664* probably null Het
Adcy8 A G 15: 64,626,711 (GRCm39) V709A possibly damaging Het
Aox1 T A 1: 58,349,230 (GRCm39) D665E probably benign Het
Arhgap22 C T 14: 33,089,070 (GRCm39) T352M probably damaging Het
Atg9a G A 1: 75,163,390 (GRCm39) L237F probably damaging Het
Ccdc178 T G 18: 22,152,098 (GRCm39) K672T possibly damaging Het
Ccdc63 T G 5: 122,249,009 (GRCm39) K440T possibly damaging Het
Cd55b A T 1: 130,341,813 (GRCm39) W275R probably damaging Het
Col4a3 T C 1: 82,686,297 (GRCm39) probably benign Het
Dmpk C G 7: 18,821,195 (GRCm39) D204E probably damaging Het
Egfr T C 11: 16,812,964 (GRCm39) V148A probably damaging Het
F11 A T 8: 45,694,531 (GRCm39) V610E probably damaging Het
Fbxw9 T C 8: 85,788,658 (GRCm39) Y165H probably benign Het
Fzd6 C T 15: 38,889,073 (GRCm39) L64F probably damaging Het
Galntl6 A T 8: 59,364,374 (GRCm39) H45Q probably benign Het
Gbp7 C A 3: 142,247,318 (GRCm39) S276* probably null Het
Gnb5 A T 9: 75,242,933 (GRCm39) I168F probably damaging Het
Gon4l T C 3: 88,805,403 (GRCm39) probably benign Het
Gpat4 C T 8: 23,670,927 (GRCm39) C95Y probably damaging Het
Gstm7 T A 3: 107,834,302 (GRCm39) probably benign Het
Hyal4 A G 6: 24,755,745 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kank4 G A 4: 98,644,756 (GRCm39) R999W probably benign Het
Kdm2a A G 19: 4,379,219 (GRCm39) V92A probably benign Het
Klhl9 T C 4: 88,639,974 (GRCm39) D89G probably benign Het
Klre1 A G 6: 129,559,378 (GRCm39) T103A probably benign Het
Lamc1 CGCTGGC CGC 1: 153,097,392 (GRCm39) probably null Het
Lamc1 G T 1: 153,097,446 (GRCm39) L1533I probably benign Het
Lca5l T C 16: 95,962,560 (GRCm39) H455R possibly damaging Het
Lmo7 C A 14: 102,031,705 (GRCm39) T33K probably benign Het
Lrig1 A G 6: 94,640,895 (GRCm39) probably benign Het
Mep1b T A 18: 21,221,786 (GRCm39) Y245* probably null Het
Mettl24 A G 10: 40,686,615 (GRCm39) T331A possibly damaging Het
Mycbp2 A C 14: 103,422,271 (GRCm39) D2467E probably damaging Het
Myo15b T C 11: 115,773,280 (GRCm39) S1871P probably benign Het
Ncbp1 T C 4: 46,165,193 (GRCm39) L502P possibly damaging Het
Npr1 T C 3: 90,366,028 (GRCm39) N588D possibly damaging Het
Or2g7 T A 17: 38,378,814 (GRCm39) Y251N probably damaging Het
Or8k16 A T 2: 85,519,790 (GRCm39) T6S probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Phactr4 A G 4: 132,105,731 (GRCm39) S112P probably benign Het
R3hdm1 C T 1: 128,121,333 (GRCm39) T279I probably benign Het
Rere A G 4: 150,699,829 (GRCm39) probably benign Het
Ryr1 T A 7: 28,709,122 (GRCm39) E4779V unknown Het
Sh2d4b A G 14: 40,596,139 (GRCm39) V81A probably benign Het
Slc10a5 T C 3: 10,399,484 (GRCm39) H392R probably benign Het
Slc26a4 T C 12: 31,585,618 (GRCm39) T477A probably benign Het
Spata31d1b T C 13: 59,865,618 (GRCm39) V922A possibly damaging Het
Sptan1 T A 2: 29,870,075 (GRCm39) probably null Het
Stard9 A G 2: 120,523,920 (GRCm39) D705G probably benign Het
Tdpoz3 T A 3: 93,734,188 (GRCm39) S288T probably benign Het
Tsga10 A G 1: 37,800,509 (GRCm39) probably null Het
Usp18 G A 6: 121,238,452 (GRCm39) A200T probably benign Het
Zfp759 A T 13: 67,287,927 (GRCm39) T493S probably benign Het
Other mutations in Fam83b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Fam83b APN 9 76,398,260 (GRCm39) missense probably benign 0.00
IGL01554:Fam83b APN 9 76,409,403 (GRCm39) missense probably benign 0.33
IGL01694:Fam83b APN 9 76,398,272 (GRCm39) missense probably benign 0.13
IGL02009:Fam83b APN 9 76,399,604 (GRCm39) missense probably damaging 1.00
IGL02531:Fam83b APN 9 76,399,282 (GRCm39) missense possibly damaging 0.61
IGL03328:Fam83b APN 9 76,400,324 (GRCm39) missense probably benign 0.01
PIT4581001:Fam83b UTSW 9 76,398,434 (GRCm39) missense probably damaging 1.00
R0110:Fam83b UTSW 9 76,400,108 (GRCm39) missense possibly damaging 0.75
R0469:Fam83b UTSW 9 76,400,108 (GRCm39) missense possibly damaging 0.75
R0510:Fam83b UTSW 9 76,400,108 (GRCm39) missense possibly damaging 0.75
R0732:Fam83b UTSW 9 76,400,210 (GRCm39) nonsense probably null
R0946:Fam83b UTSW 9 76,398,679 (GRCm39) missense probably damaging 0.96
R1101:Fam83b UTSW 9 76,452,952 (GRCm39) missense possibly damaging 0.68
R1200:Fam83b UTSW 9 76,399,594 (GRCm39) missense probably damaging 1.00
R1248:Fam83b UTSW 9 76,410,358 (GRCm39) missense probably benign 0.35
R1420:Fam83b UTSW 9 76,399,894 (GRCm39) missense possibly damaging 0.94
R1429:Fam83b UTSW 9 76,399,859 (GRCm39) missense probably benign
R1939:Fam83b UTSW 9 76,400,362 (GRCm39) missense probably damaging 1.00
R1992:Fam83b UTSW 9 76,399,304 (GRCm39) missense probably benign
R2102:Fam83b UTSW 9 76,399,987 (GRCm39) missense probably damaging 0.96
R2134:Fam83b UTSW 9 76,398,298 (GRCm39) missense probably damaging 1.00
R2398:Fam83b UTSW 9 76,409,500 (GRCm39) missense probably damaging 1.00
R2878:Fam83b UTSW 9 76,398,092 (GRCm39) missense probably damaging 1.00
R4092:Fam83b UTSW 9 76,398,943 (GRCm39) missense probably benign 0.24
R4204:Fam83b UTSW 9 76,410,335 (GRCm39) missense probably benign 0.09
R4537:Fam83b UTSW 9 76,399,424 (GRCm39) missense probably benign 0.10
R4920:Fam83b UTSW 9 76,399,150 (GRCm39) missense probably benign
R5456:Fam83b UTSW 9 76,399,877 (GRCm39) missense probably benign
R5473:Fam83b UTSW 9 76,398,782 (GRCm39) missense probably damaging 1.00
R5488:Fam83b UTSW 9 76,452,881 (GRCm39) missense probably benign 0.05
R5489:Fam83b UTSW 9 76,452,881 (GRCm39) missense probably benign 0.05
R5876:Fam83b UTSW 9 76,399,132 (GRCm39) missense possibly damaging 0.92
R6150:Fam83b UTSW 9 76,399,639 (GRCm39) missense probably damaging 1.00
R6374:Fam83b UTSW 9 76,400,189 (GRCm39) missense probably benign 0.31
R6468:Fam83b UTSW 9 76,409,413 (GRCm39) nonsense probably null
R6912:Fam83b UTSW 9 76,398,214 (GRCm39) missense probably damaging 0.99
R7022:Fam83b UTSW 9 76,409,394 (GRCm39) frame shift probably null
R7073:Fam83b UTSW 9 76,453,031 (GRCm39) missense probably benign 0.18
R7356:Fam83b UTSW 9 76,400,135 (GRCm39) missense probably benign 0.05
R7665:Fam83b UTSW 9 76,398,157 (GRCm39) missense probably damaging 1.00
R7762:Fam83b UTSW 9 76,399,714 (GRCm39) missense possibly damaging 0.87
R7790:Fam83b UTSW 9 76,399,330 (GRCm39) missense probably benign 0.01
R7869:Fam83b UTSW 9 76,399,426 (GRCm39) missense possibly damaging 0.78
R7879:Fam83b UTSW 9 76,399,737 (GRCm39) missense possibly damaging 0.76
R7957:Fam83b UTSW 9 76,399,267 (GRCm39) missense probably benign 0.00
R8067:Fam83b UTSW 9 76,398,380 (GRCm39) missense probably benign
R8983:Fam83b UTSW 9 76,400,357 (GRCm39) missense probably damaging 1.00
R9361:Fam83b UTSW 9 76,400,076 (GRCm39) missense probably benign 0.03
R9405:Fam83b UTSW 9 76,398,703 (GRCm39) missense possibly damaging 0.93
R9475:Fam83b UTSW 9 76,399,085 (GRCm39) missense probably benign 0.31
R9656:Fam83b UTSW 9 76,452,863 (GRCm39) missense probably benign 0.02
R9690:Fam83b UTSW 9 76,398,502 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAGCTGATCTCCTTGGAATCCCG -3'
(R):5'- TGCTCAAAAGGCGCAGTTTCCC -3'

Sequencing Primer
(F):5'- GGAGAAGGCGCTATTCTTCT -3'
(R):5'- AGGTTATCGAGAGAGACCCTCC -3'
Posted On 2013-11-08