Incidental Mutation 'R9649:Fam83h'
ID 726997
Institutional Source Beutler Lab
Gene Symbol Fam83h
Ensembl Gene ENSMUSG00000046761
Gene Name family with sequence similarity 83, member H
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R9649 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 75872942-75886185 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75877976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 141 (R141W)
Ref Sequence ENSEMBL: ENSMUSP00000059839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060807] [ENSMUST00000170153] [ENSMUST00000187868]
AlphaFold Q148V8
Predicted Effect probably damaging
Transcript: ENSMUST00000060807
AA Change: R141W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: R141W

DomainStartEndE-ValueType
Pfam:DUF1669 12 283 3.4e-105 PFAM
low complexity region 304 317 N/A INTRINSIC
low complexity region 562 578 N/A INTRINSIC
low complexity region 629 652 N/A INTRINSIC
low complexity region 671 679 N/A INTRINSIC
low complexity region 685 697 N/A INTRINSIC
low complexity region 736 747 N/A INTRINSIC
internal_repeat_1 836 877 9.35e-9 PROSPERO
internal_repeat_1 877 921 9.35e-9 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000170153
AA Change: R141W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: R141W

DomainStartEndE-ValueType
Pfam:DUF1669 4 284 2.1e-110 PFAM
low complexity region 304 317 N/A INTRINSIC
low complexity region 562 578 N/A INTRINSIC
low complexity region 629 652 N/A INTRINSIC
low complexity region 671 679 N/A INTRINSIC
low complexity region 685 697 N/A INTRINSIC
low complexity region 736 747 N/A INTRINSIC
internal_repeat_1 836 877 9.35e-9 PROSPERO
internal_repeat_1 877 921 9.35e-9 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000187868
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010B08Rik A T 2: 173,561,706 (GRCm39) H5L unknown Het
Aatk A G 11: 119,901,733 (GRCm39) S888P probably damaging Het
Ahnak A T 19: 8,985,786 (GRCm39) K2357* probably null Het
Arl9 T A 5: 77,155,139 (GRCm39) L90Q probably damaging Het
Atosa A G 9: 74,924,349 (GRCm39) D864G possibly damaging Het
Atxn2 T C 5: 121,949,055 (GRCm39) V1144A probably damaging Het
Batf3 C T 1: 190,830,623 (GRCm39) probably benign Het
Bltp3b C A 10: 89,626,593 (GRCm39) T429K probably benign Het
Brpf3 G A 17: 29,037,597 (GRCm39) E822K probably benign Het
Cabin1 T A 10: 75,575,239 (GRCm39) Q602L probably damaging Het
Cadps T C 14: 12,597,418 (GRCm38) E424G probably damaging Het
Camta1 A G 4: 151,216,004 (GRCm39) L972P possibly damaging Het
Ccdc159 A G 9: 21,840,672 (GRCm39) N80D possibly damaging Het
Cdh1 A C 8: 107,388,604 (GRCm39) E553D possibly damaging Het
Cdk14 T A 5: 5,423,477 (GRCm39) E35V probably benign Het
Cfap70 A G 14: 20,450,546 (GRCm39) L995P probably damaging Het
Col18a1 T A 10: 76,916,673 (GRCm39) E334V unknown Het
Colec12 T A 18: 9,877,000 (GRCm39) I741K unknown Het
Crot A G 5: 9,024,170 (GRCm39) V342A probably benign Het
Ctnnal1 A G 4: 56,865,036 (GRCm39) S27P possibly damaging Het
Cyp2j9 A G 4: 96,460,193 (GRCm39) S437P probably damaging Het
Dennd4c A T 4: 86,743,160 (GRCm39) T1001S probably benign Het
Dffa G A 4: 149,202,276 (GRCm39) V227I probably benign Het
Dnaaf5 T A 5: 139,159,909 (GRCm39) H602Q probably benign Het
Efcab7 G T 4: 99,761,902 (GRCm39) K397N probably damaging Het
Egfl6 C T X: 165,319,235 (GRCm39) V379I probably benign Het
Fadd G A 7: 144,134,384 (GRCm39) T167I probably benign Het
Fam184b T C 5: 45,796,484 (GRCm39) D33G probably damaging Het
Fam237b C T 5: 5,625,549 (GRCm39) Q82* probably null Het
Fanci G A 7: 79,076,954 (GRCm39) R564Q probably damaging Het
Fat3 A T 9: 15,908,054 (GRCm39) D2649E possibly damaging Het
Fcrl1 A G 3: 87,291,918 (GRCm39) T46A possibly damaging Het
Fig4 C T 10: 41,143,763 (GRCm39) G232D probably benign Het
Frem3 A T 8: 81,341,145 (GRCm39) H1146L probably damaging Het
Fyttd1 T A 16: 32,715,472 (GRCm39) F133L probably benign Het
Gata2 A G 6: 88,179,505 (GRCm39) N326D probably damaging Het
Gm7298 A T 6: 121,764,491 (GRCm39) T1457S probably damaging Het
Hdac1-ps A T 17: 78,799,075 (GRCm39) Y22F probably benign Het
Heatr5b C T 17: 79,141,524 (GRCm39) probably null Het
Hfm1 T A 5: 107,066,329 (GRCm39) D33V possibly damaging Het
Hmcn2 G A 2: 31,292,450 (GRCm39) A2447T possibly damaging Het
Hs3st3b1 A G 11: 63,812,331 (GRCm39) F128S probably benign Het
Hs3st6 G T 17: 24,972,226 (GRCm39) R56L possibly damaging Het
Hsd17b3 C T 13: 64,212,171 (GRCm39) M168I probably damaging Het
Ighv1-34 G T 12: 114,814,885 (GRCm39) D92E possibly damaging Het
Itgb4 A T 11: 115,885,171 (GRCm39) I1018F possibly damaging Het
Itih3 T C 14: 30,637,605 (GRCm39) D518G possibly damaging Het
Kcnma1 C T 14: 23,501,666 (GRCm39) probably null Het
Klhl11 A T 11: 100,363,506 (GRCm39) S17T probably benign Het
Lilra6 T C 7: 3,917,521 (GRCm39) E158G possibly damaging Het
Loxl1 A G 9: 58,220,037 (GRCm39) W45R probably damaging Het
Lratd1 T C 12: 14,200,190 (GRCm39) N179S probably benign Het
Lrfn1 G T 7: 28,166,255 (GRCm39) V550F probably damaging Het
Lrp1 T C 10: 127,409,368 (GRCm39) K1584E probably benign Het
Lrp4 C G 2: 91,338,914 (GRCm39) P1782A possibly damaging Het
Map3k1 A G 13: 111,885,478 (GRCm39) S1480P probably damaging Het
Mark4 G T 7: 19,160,015 (GRCm39) N748K probably benign Het
Mrpl38 G A 11: 116,025,900 (GRCm39) T142M probably damaging Het
Mrpl41 T C 2: 24,864,481 (GRCm39) T64A probably benign Het
Mrps2 G A 2: 28,359,764 (GRCm39) R207K possibly damaging Het
Myo5a A T 9: 75,099,726 (GRCm39) E96D Het
Nbas A T 12: 13,633,417 (GRCm39) E2274V probably damaging Het
Or4x13 T C 2: 90,231,338 (GRCm39) F111S probably damaging Het
Or51a8 T C 7: 102,549,652 (GRCm39) I26T probably benign Het
Or51ac3 T C 7: 103,213,850 (GRCm39) D212G probably damaging Het
Or5m10b T C 2: 85,699,278 (GRCm39) L114P possibly damaging Het
Or5m10b T A 2: 85,699,819 (GRCm39) N294K probably damaging Het
Or6c35 T A 10: 129,169,368 (GRCm39) I206N possibly damaging Het
Pcdhga12 T A 18: 37,900,288 (GRCm39) D373E probably damaging Het
Pgd A C 4: 149,235,596 (GRCm39) F395V probably damaging Het
Pi16 A G 17: 29,538,363 (GRCm39) M59V possibly damaging Het
Pik3r5 A T 11: 68,381,720 (GRCm39) T255S probably benign Het
Plch2 A T 4: 155,068,516 (GRCm39) V1370E probably benign Het
Plec A G 15: 76,067,153 (GRCm39) I1309T unknown Het
Ppp2r3d A T 9: 124,440,831 (GRCm38) S22R Het
Pramel26 A G 4: 143,542,609 (GRCm39) C4R probably damaging Het
Ptk2b C A 14: 66,413,154 (GRCm39) E342* probably null Het
Ptpn23 T C 9: 110,215,226 (GRCm39) probably null Het
Rfx8 A C 1: 39,722,850 (GRCm39) S256A probably damaging Het
Rnf115 C T 3: 96,665,337 (GRCm39) T69I probably damaging Het
Rnf213 A G 11: 119,370,457 (GRCm39) Y4753C Het
S100a10 A C 3: 93,471,590 (GRCm39) D58A possibly damaging Het
Serpina12 T C 12: 104,004,317 (GRCm39) K105R probably benign Het
Slc20a2 G A 8: 23,028,900 (GRCm39) G124S probably damaging Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Stard9 C A 2: 120,526,635 (GRCm39) T964N probably benign Het
Stxbp5 T A 10: 9,774,938 (GRCm39) I72F probably damaging Het
Sumf2 T A 5: 129,891,482 (GRCm39) M282K possibly damaging Het
Tle7 T C 8: 110,837,580 (GRCm39) F375L probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem185b G T 1: 119,454,613 (GRCm39) V125L probably benign Het
Tmtc1 A G 6: 148,144,714 (GRCm39) M887T probably damaging Het
Tnfaip8 C T 18: 50,223,512 (GRCm39) Q83* probably null Het
Tnks A G 8: 35,306,089 (GRCm39) V1162A probably damaging Het
Tomm70a T A 16: 56,961,072 (GRCm39) Y342N possibly damaging Het
Tpo T A 12: 30,125,875 (GRCm39) D828V probably damaging Het
Ugt8a A T 3: 125,708,338 (GRCm39) N257K probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vim T A 2: 13,579,703 (GRCm39) M154K probably damaging Het
Virma G T 4: 11,486,045 (GRCm39) M1I probably null Het
Zfp715 A T 7: 42,950,653 (GRCm39) M100K probably benign Het
Zfp748 A T 13: 67,690,647 (GRCm39) C204* probably null Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E probably damaging Het
Other mutations in Fam83h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Fam83h APN 15 75,875,885 (GRCm39) missense probably damaging 0.98
IGL01463:Fam83h APN 15 75,875,637 (GRCm39) missense possibly damaging 0.57
IGL01789:Fam83h APN 15 75,877,969 (GRCm39) missense probably damaging 1.00
IGL02029:Fam83h APN 15 75,878,287 (GRCm39) missense probably damaging 1.00
IGL02157:Fam83h APN 15 75,876,904 (GRCm39) missense probably damaging 1.00
IGL03225:Fam83h APN 15 75,875,150 (GRCm39) missense probably damaging 1.00
PIT4260001:Fam83h UTSW 15 75,873,746 (GRCm39) missense probably damaging 1.00
R0008:Fam83h UTSW 15 75,875,811 (GRCm39) missense probably damaging 1.00
R0071:Fam83h UTSW 15 75,874,377 (GRCm39) missense probably benign
R0318:Fam83h UTSW 15 75,875,478 (GRCm39) missense probably benign 0.04
R0539:Fam83h UTSW 15 75,875,076 (GRCm39) missense possibly damaging 0.88
R0638:Fam83h UTSW 15 75,875,776 (GRCm39) missense probably benign 0.01
R0790:Fam83h UTSW 15 75,875,241 (GRCm39) missense probably benign 0.43
R0883:Fam83h UTSW 15 75,878,018 (GRCm39) missense probably damaging 1.00
R1970:Fam83h UTSW 15 75,878,419 (GRCm39) unclassified probably benign
R2046:Fam83h UTSW 15 75,874,787 (GRCm39) missense probably benign
R2114:Fam83h UTSW 15 75,874,146 (GRCm39) missense probably damaging 1.00
R2115:Fam83h UTSW 15 75,874,146 (GRCm39) missense probably damaging 1.00
R2117:Fam83h UTSW 15 75,876,582 (GRCm39) nonsense probably null
R3702:Fam83h UTSW 15 75,874,499 (GRCm39) missense probably benign
R3842:Fam83h UTSW 15 75,874,499 (GRCm39) missense probably benign
R4729:Fam83h UTSW 15 75,874,185 (GRCm39) missense probably benign
R4791:Fam83h UTSW 15 75,874,217 (GRCm39) missense probably damaging 1.00
R5024:Fam83h UTSW 15 75,876,991 (GRCm39) missense probably damaging 1.00
R5471:Fam83h UTSW 15 75,874,752 (GRCm39) missense probably benign 0.00
R6013:Fam83h UTSW 15 75,875,849 (GRCm39) missense probably damaging 0.99
R6488:Fam83h UTSW 15 75,873,902 (GRCm39) missense possibly damaging 0.67
R6558:Fam83h UTSW 15 75,876,302 (GRCm39) missense probably damaging 1.00
R6618:Fam83h UTSW 15 75,875,360 (GRCm39) missense probably damaging 1.00
R7030:Fam83h UTSW 15 75,876,588 (GRCm39) missense probably benign 0.08
R7148:Fam83h UTSW 15 75,877,016 (GRCm39) missense probably damaging 0.98
R7191:Fam83h UTSW 15 75,874,886 (GRCm39) missense probably damaging 1.00
R7438:Fam83h UTSW 15 75,876,275 (GRCm39) missense possibly damaging 0.93
R7705:Fam83h UTSW 15 75,875,699 (GRCm39) missense probably damaging 0.99
R8194:Fam83h UTSW 15 75,874,624 (GRCm39) small deletion probably benign
R8218:Fam83h UTSW 15 75,874,886 (GRCm39) missense probably damaging 1.00
R8282:Fam83h UTSW 15 75,874,624 (GRCm39) small deletion probably benign
R8293:Fam83h UTSW 15 75,874,624 (GRCm39) small deletion probably benign
R8493:Fam83h UTSW 15 75,874,502 (GRCm39) missense probably benign 0.00
R8910:Fam83h UTSW 15 75,874,844 (GRCm39) missense probably benign 0.01
R9025:Fam83h UTSW 15 75,874,182 (GRCm39) missense probably benign 0.27
R9028:Fam83h UTSW 15 75,875,738 (GRCm39) missense possibly damaging 0.54
R9099:Fam83h UTSW 15 75,875,135 (GRCm39) missense probably damaging 1.00
R9320:Fam83h UTSW 15 75,873,924 (GRCm39) missense possibly damaging 0.56
X0010:Fam83h UTSW 15 75,876,788 (GRCm39) critical splice donor site probably null
X0061:Fam83h UTSW 15 75,875,352 (GRCm39) missense probably damaging 1.00
Z1177:Fam83h UTSW 15 75,878,390 (GRCm39) missense probably damaging 1.00
Z1177:Fam83h UTSW 15 75,874,811 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTCTACAGAACCCGCTACC -3'
(R):5'- CCCATCTGATGTGGACATGG -3'

Sequencing Primer
(F):5'- CCAGGTGATAATGAGCAGACTCTAC -3'
(R):5'- ATGTGGACATGGACGGGTC -3'
Posted On 2022-10-06