Incidental Mutation 'R6280:Fam83g'
ID 507922
Institutional Source Beutler Lab
Gene Symbol Fam83g
Ensembl Gene ENSMUSG00000042377
Gene Name family with sequence similarity 83, member G
Synonyms wly, 2310040C09Rik
MMRRC Submission 044450-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6280 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 61574917-61600777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 61594008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 514 (S514I)
Ref Sequence ENSEMBL: ENSMUSP00000090697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051552] [ENSMUST00000093019] [ENSMUST00000148584] [ENSMUST00000151780]
AlphaFold Q5SWY7
Predicted Effect probably benign
Transcript: ENSMUST00000051552
SMART Domains Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371

DomainStartEndE-ValueType
Pfam:SSF 50 479 2.4e-139 PFAM
transmembrane domain 513 535 N/A INTRINSIC
transmembrane domain 576 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093019
AA Change: S514I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000090697
Gene: ENSMUSG00000042377
AA Change: S514I

DomainStartEndE-ValueType
Pfam:DUF1669 15 309 1.8e-120 PFAM
Pfam:PLDc_2 165 304 5.5e-11 PFAM
low complexity region 316 336 N/A INTRINSIC
low complexity region 468 481 N/A INTRINSIC
low complexity region 577 585 N/A INTRINSIC
low complexity region 589 604 N/A INTRINSIC
low complexity region 721 731 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128196
Predicted Effect probably benign
Transcript: ENSMUST00000148584
SMART Domains Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371

DomainStartEndE-ValueType
Pfam:SSF 50 479 2.4e-139 PFAM
transmembrane domain 513 535 N/A INTRINSIC
transmembrane domain 576 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151780
SMART Domains Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371

DomainStartEndE-ValueType
Pfam:SSF 48 185 3.5e-44 PFAM
Pfam:SSF 182 450 5e-79 PFAM
transmembrane domain 484 506 N/A INTRINSIC
transmembrane domain 547 566 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
MGI Phenotype PHENOTYPE: Mutations at this locus result in curly hair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Col18a1 A T 10: 76,948,323 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 (GRCm39) V442I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hira A G 16: 18,729,457 (GRCm39) N109D probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Irak4 G T 15: 94,449,691 (GRCm39) E57* probably null Het
Kcnh2 T A 5: 24,536,921 (GRCm39) H221L probably benign Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Mep1a A T 17: 43,813,283 (GRCm39) N46K probably damaging Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Pou2f3 A T 9: 43,050,634 (GRCm39) L242Q probably damaging Het
Pou2f3 G T 9: 43,050,635 (GRCm39) L242M probably damaging Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tbc1d5 T C 17: 51,089,338 (GRCm39) N614S probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A probably benign Het
Other mutations in Fam83g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Fam83g APN 11 61,575,609 (GRCm39) missense probably benign 0.00
IGL02958:Fam83g APN 11 61,598,548 (GRCm39) missense probably damaging 1.00
PIT4402001:Fam83g UTSW 11 61,594,422 (GRCm39) missense probably damaging 0.99
R0365:Fam83g UTSW 11 61,593,935 (GRCm39) nonsense probably null
R0410:Fam83g UTSW 11 61,594,218 (GRCm39) missense probably damaging 1.00
R0555:Fam83g UTSW 11 61,598,489 (GRCm39) missense probably benign 0.37
R1163:Fam83g UTSW 11 61,594,262 (GRCm39) missense probably damaging 1.00
R1413:Fam83g UTSW 11 61,593,504 (GRCm39) missense probably damaging 1.00
R1474:Fam83g UTSW 11 61,593,819 (GRCm39) missense probably damaging 1.00
R1916:Fam83g UTSW 11 61,585,994 (GRCm39) missense probably damaging 1.00
R2006:Fam83g UTSW 11 61,593,801 (GRCm39) missense possibly damaging 0.94
R2105:Fam83g UTSW 11 61,594,284 (GRCm39) missense probably benign 0.01
R2134:Fam83g UTSW 11 61,594,510 (GRCm39) missense probably benign 0.00
R2968:Fam83g UTSW 11 61,594,304 (GRCm39) missense probably damaging 0.97
R4274:Fam83g UTSW 11 61,592,554 (GRCm39) missense probably damaging 1.00
R4753:Fam83g UTSW 11 61,586,095 (GRCm39) missense probably damaging 1.00
R5888:Fam83g UTSW 11 61,593,420 (GRCm39) missense probably benign 0.38
R7234:Fam83g UTSW 11 61,593,342 (GRCm39) missense possibly damaging 0.75
R7257:Fam83g UTSW 11 61,575,579 (GRCm39) missense probably damaging 1.00
R7588:Fam83g UTSW 11 61,575,522 (GRCm39) missense probably damaging 1.00
R7761:Fam83g UTSW 11 61,575,584 (GRCm39) missense possibly damaging 0.90
R9624:Fam83g UTSW 11 61,575,328 (GRCm39) intron probably benign
Z1176:Fam83g UTSW 11 61,598,296 (GRCm39) missense probably benign 0.08
Z1186:Fam83g UTSW 11 61,594,020 (GRCm39) missense probably benign 0.00
Z1187:Fam83g UTSW 11 61,594,020 (GRCm39) missense probably benign 0.00
Z1188:Fam83g UTSW 11 61,594,020 (GRCm39) missense probably benign 0.00
Z1189:Fam83g UTSW 11 61,594,020 (GRCm39) missense probably benign 0.00
Z1190:Fam83g UTSW 11 61,594,020 (GRCm39) missense probably benign 0.00
Z1191:Fam83g UTSW 11 61,594,020 (GRCm39) missense probably benign 0.00
Z1192:Fam83g UTSW 11 61,594,020 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAAGATCCGTGACACAGC -3'
(R):5'- GTCTGACATGGATGAAGCCAC -3'

Sequencing Primer
(F):5'- GATCCGTGACACAGCCCATG -3'
(R):5'- TCACTGAGGGTCACGTAGTCATC -3'
Posted On 2018-03-15