Incidental Mutation 'R0638:Fam83h'
ID 56837
Institutional Source Beutler Lab
Gene Symbol Fam83h
Ensembl Gene ENSMUSG00000046761
Gene Name family with sequence similarity 83, member H
Synonyms
MMRRC Submission 038827-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R0638 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 75872942-75886185 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75875776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 520 (H520Q)
Ref Sequence ENSEMBL: ENSMUSP00000126453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060807] [ENSMUST00000089669] [ENSMUST00000170153]
AlphaFold Q148V8
Predicted Effect probably benign
Transcript: ENSMUST00000060807
AA Change: H520Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: H520Q

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 benign
Transcript: ENSMUST00000089669
SMART Domains Protein: ENSMUSP00000087098
Gene: ENSMUSG00000063704

DomainStartEndE-ValueType
S_TKc 14 305 7.08e-97 SMART
low complexity region 391 404 N/A INTRINSIC
low complexity region 424 434 N/A INTRINSIC
low complexity region 475 505 N/A INTRINSIC
low complexity region 513 525 N/A INTRINSIC
low complexity region 538 548 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160637
Predicted Effect probably benign
Transcript: ENSMUST00000170153
AA Change: H520Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: H520Q

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: ENSMUST00000230929
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.5%
Validation Efficiency 99% (76/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,547,572 (GRCm39) Q161K probably benign Het
Aatk A T 11: 119,900,748 (GRCm39) L1216Q probably damaging Het
Aifm3 T C 16: 17,321,535 (GRCm39) F463L possibly damaging Het
Antxr2 C T 5: 98,108,496 (GRCm39) W338* probably null Het
Apc2 T C 10: 80,140,801 (GRCm39) S219P probably damaging Het
Arfgap3 A T 15: 83,192,389 (GRCm39) probably null Het
Arrdc5 A G 17: 56,607,020 (GRCm39) V75A possibly damaging Het
Atg16l2 A T 7: 100,949,317 (GRCm39) probably null Het
Cacna1i A G 15: 80,265,281 (GRCm39) N1511S possibly damaging Het
Cad T C 5: 31,235,032 (GRCm39) Y2095H probably damaging Het
Chia1 T C 3: 106,035,753 (GRCm39) probably benign Het
Crybg2 A G 4: 133,801,765 (GRCm39) D975G probably damaging Het
Dagla T C 19: 10,232,247 (GRCm39) I480V probably damaging Het
Efl1 C T 7: 82,301,095 (GRCm39) T33I probably damaging Het
Esp36 A G 17: 38,728,060 (GRCm39) F74L probably benign Het
Faim T C 9: 98,874,149 (GRCm39) probably benign Het
Fbn2 A T 18: 58,178,446 (GRCm39) C1931S probably damaging Het
Frs3 A G 17: 48,012,581 (GRCm39) D96G probably benign Het
Gbp4 A G 5: 105,269,706 (GRCm39) M374T probably damaging Het
Gimap1 C T 6: 48,718,359 (GRCm39) probably benign Het
Gm10010 A G 6: 128,177,576 (GRCm39) noncoding transcript Het
Gm10355 T C 3: 101,214,214 (GRCm39) noncoding transcript Het
Gmip C T 8: 70,264,095 (GRCm39) probably benign Het
Gpc2 A T 5: 138,276,796 (GRCm39) F110Y possibly damaging Het
Ifi44l C T 3: 151,468,396 (GRCm39) V45M probably benign Het
Il15 T C 8: 83,069,890 (GRCm39) E58G probably damaging Het
Kat2b T C 17: 53,951,771 (GRCm39) probably benign Het
Kcnh7 C A 2: 62,607,854 (GRCm39) V576L probably benign Het
Lrrc66 T A 5: 73,772,816 (GRCm39) probably benign Het
Mical1 A G 10: 41,358,235 (GRCm39) E416G probably benign Het
Mroh3 A G 1: 136,118,740 (GRCm39) Y526H probably damaging Het
Mtx2 T C 2: 74,699,634 (GRCm39) probably benign Het
Naip6 A T 13: 100,437,036 (GRCm39) Y496N probably benign Het
Nfyc A G 4: 120,626,081 (GRCm39) S73P probably benign Het
Or10v9 C T 19: 11,832,487 (GRCm39) V277M probably damaging Het
Or10v9 A C 19: 11,832,732 (GRCm39) V195G probably damaging Het
Or1e23 T A 11: 73,407,750 (GRCm39) I92F probably damaging Het
Or5ak25 A G 2: 85,268,845 (GRCm39) I219T probably benign Het
Or6c69b T A 10: 129,627,101 (GRCm39) D119V probably damaging Het
P2ry14 A G 3: 59,022,869 (GRCm39) V206A probably benign Het
Polg G A 7: 79,109,896 (GRCm39) probably benign Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Ptgs1 G A 2: 36,130,868 (GRCm39) probably benign Het
Pus7l A G 15: 94,421,298 (GRCm39) S671P probably benign Het
Ralgapa2 T C 2: 146,184,112 (GRCm39) T1547A probably benign Het
Rif1 T C 2: 52,001,600 (GRCm39) S1685P probably benign Het
Rnf213 T C 11: 119,361,036 (GRCm39) Y4452H probably damaging Het
Samd7 A G 3: 30,810,670 (GRCm39) D229G probably benign Het
Serpina3j T C 12: 104,281,078 (GRCm39) S84P possibly damaging Het
Slc35d1 A G 4: 103,070,441 (GRCm39) probably benign Het
Sorbs2 A G 8: 46,249,347 (GRCm39) D847G probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Steap4 T C 5: 8,027,030 (GRCm39) probably benign Het
Tg A C 15: 66,589,057 (GRCm39) T13P probably damaging Het
Timeless T A 10: 128,080,542 (GRCm39) Y474* probably null Het
Tmem94 T C 11: 115,682,886 (GRCm39) probably null Het
Trdmt1 G A 2: 13,521,459 (GRCm39) probably benign Het
Trim23 T C 13: 104,337,817 (GRCm39) Y522H probably benign Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Txnl1 A G 18: 63,825,135 (GRCm39) probably benign Het
Unkl T C 17: 25,427,057 (GRCm39) probably benign Het
Usp54 T A 14: 20,639,437 (GRCm39) probably benign Het
Vcam1 T C 3: 115,910,908 (GRCm39) K497E possibly damaging Het
Vmn1r49 C A 6: 90,049,648 (GRCm39) S118I possibly damaging Het
Vmn2r118 T C 17: 55,915,466 (GRCm39) K495E probably benign Het
Wrnip1 G A 13: 33,005,073 (GRCm39) C560Y possibly damaging Het
Xkr5 T C 8: 18,983,563 (GRCm39) R660G probably benign Het
Zfp280c A G X: 47,637,580 (GRCm39) probably benign Het
Zfp707 G A 15: 75,846,978 (GRCm39) A291T possibly 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
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
R9649:Fam83h UTSW 15 75,877,976 (GRCm39) missense probably damaging 1.00
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'- AAGCCTCAGCCTCCATTGGTAGAC -3'
(R):5'- ATGACTTCCGTTTCCAGACCAGCC -3'

Sequencing Primer
(F):5'- AGCCGCTCAGGTAGGAG -3'
(R):5'- TCTATCAGCAGCATTACCAGTGG -3'
Posted On 2013-07-11