Incidental Mutation 'PIT4402001:Fam83g'
ID 555538
Institutional Source Beutler Lab
Gene Symbol Fam83g
Ensembl Gene ENSMUSG00000042377
Gene Name family with sequence similarity 83, member G
Synonyms wly, 2310040C09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # PIT4402001 (G1)
Quality Score 171.009
Status Not validated
Chromosome 11
Chromosomal Location 61574917-61600777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61594422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 652 (H652R)
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 damaging
Transcript: ENSMUST00000093019
AA Change: H652R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090697
Gene: ENSMUSG00000042377
AA Change: H652R

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 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
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.3%
  • 10x: 83.2%
  • 20x: 68.1%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T G 14: 59,380,084 (GRCm39) L71F probably damaging Het
Adamts9 C T 6: 92,849,328 (GRCm39) V1044I probably benign Het
Alcam T C 16: 52,115,497 (GRCm39) Y207C probably damaging Het
Aldh4a1 C A 4: 139,369,502 (GRCm39) S351* probably null Het
Aoah C A 13: 20,978,680 (GRCm39) S39R probably benign Het
Arcn1 A T 9: 44,656,899 (GRCm39) V421E possibly damaging Het
Ccdc18 A G 5: 108,306,485 (GRCm39) E300G possibly damaging Het
Cdk2ap2 C A 19: 4,148,557 (GRCm39) R126S probably damaging Het
Dcun1d4 A G 5: 73,668,276 (GRCm39) I39V probably benign Het
Fam53b A T 7: 132,361,746 (GRCm39) I94N probably damaging Het
Fanca A T 8: 124,039,803 (GRCm39) M157K possibly damaging Het
Flt1 A T 5: 147,615,049 (GRCm39) I299N probably damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gns A G 10: 121,212,611 (GRCm39) Y191C probably damaging Het
Grin2a T C 16: 9,462,063 (GRCm39) T690A possibly damaging Het
Gsk3b C T 16: 37,909,763 (GRCm39) probably benign Het
Igsf10 A G 3: 59,233,000 (GRCm39) V1911A probably benign Het
Igsf3 A G 3: 101,334,393 (GRCm39) K157E probably benign Het
Inpp5a T C 7: 139,091,369 (GRCm39) Y118H probably benign Het
Kmt2a A G 9: 44,752,359 (GRCm39) V1413A unknown Het
Mettl9 T A 7: 120,656,440 (GRCm39) V190E probably damaging Het
Mrps9 T C 1: 42,935,258 (GRCm39) L188P probably benign Het
Myo9a A T 9: 59,777,719 (GRCm39) R1158S possibly damaging Het
Nacad T G 11: 6,548,621 (GRCm39) Q1371P probably benign Het
Ncoa1 T C 12: 4,344,987 (GRCm39) M787V probably benign Het
Noxred1 A T 12: 87,273,855 (GRCm39) I62K probably benign Het
Or1j4 A T 2: 36,740,316 (GRCm39) H86L probably benign Het
Or2d3b T A 7: 106,514,294 (GRCm39) D296E possibly damaging Het
Or2y17 A G 11: 49,232,226 (GRCm39) Y289C probably damaging Het
Or52d1 A G 7: 103,755,657 (GRCm39) Y57C probably damaging Het
Otud6b A G 4: 14,818,185 (GRCm39) Y239H probably damaging Het
Pank1 A G 19: 34,818,366 (GRCm39) Y233H probably damaging Het
Pccb G T 9: 100,877,645 (GRCm39) D286E probably benign Het
Plek A C 11: 16,940,121 (GRCm39) L196R probably benign Het
Pou6f2 T C 13: 18,299,931 (GRCm39) H576R Het
Rbm47 T A 5: 66,184,354 (GRCm39) Y83F probably damaging Het
Rbm6 A T 9: 107,665,049 (GRCm39) Y787N probably damaging Het
Slc8a2 C A 7: 15,868,419 (GRCm39) A217E probably damaging Het
Suox G A 10: 128,507,164 (GRCm39) A288V probably damaging Het
Tbccd1 T C 16: 22,640,873 (GRCm39) I501M probably damaging Het
Tjp2 C A 19: 24,075,493 (GRCm39) G1042* probably null Het
Tmtc2 T C 10: 105,249,268 (GRCm39) Y155C probably damaging Het
Usp7 T C 16: 8,516,359 (GRCm39) N600S probably benign Het
Zer1 T C 2: 29,991,132 (GRCm39) I699V probably damaging Het
Zfp142 A G 1: 74,618,687 (GRCm39) F227S probably damaging 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
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
R6280:Fam83g UTSW 11 61,594,008 (GRCm39) missense probably benign 0.00
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'- GCACTCATCTATGACGCAGG -3'
(R):5'- TCTTGGGGTAACTGTAGAACAC -3'

Sequencing Primer
(F):5'- ATGACTACGTGACCCTCAGTG -3'
(R):5'- GTAACTGTAGAACACTTTGGGATG -3'
Posted On 2019-06-07