Incidental Mutation 'R1889:Fam20a'
ID 209844
Institutional Source Beutler Lab
Gene Symbol Fam20a
Ensembl Gene ENSMUSG00000020614
Gene Name FAM20A, golgi associated secretory pathway pseudokinase
Synonyms
MMRRC Submission 039910-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1889 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 109563752-109613989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109564380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 458 (K458E)
Ref Sequence ENSEMBL: ENSMUSP00000116687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020938] [ENSMUST00000049527] [ENSMUST00000106677] [ENSMUST00000155559]
AlphaFold Q8CID3
Predicted Effect probably benign
Transcript: ENSMUST00000020938
AA Change: K458E

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: K458E

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
low complexity region 50 61 N/A INTRINSIC
Pfam:Fam20C 306 522 8.9e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049527
SMART Domains Protein: ENSMUSP00000056500
Gene: ENSMUSG00000020612

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
RIIa 25 62 7.54e-15 SMART
cNMP 137 253 2.99e-32 SMART
cNMP 255 374 1.74e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106677
SMART Domains Protein: ENSMUSP00000102288
Gene: ENSMUSG00000020612

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
RIIa 25 62 7.54e-15 SMART
cNMP 137 253 2.99e-32 SMART
cNMP 255 374 1.74e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146408
Predicted Effect probably benign
Transcript: ENSMUST00000155559
AA Change: K458E

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: K458E

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
low complexity region 50 61 N/A INTRINSIC
Pfam:DUF1193 305 525 3.2e-103 PFAM
Meta Mutation Damage Score 0.3922 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.6%
  • 20x: 88.0%
Validation Efficiency 97% (103/106)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ameloblast morphology, disrupted dental enamel formation in both incisor and molar teeth, abnormal kidney morphology, disseminated calcifications of muscular arteries, and intrapulmonary calcifications. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,034,815 (GRCm39) noncoding transcript Het
9130008F23Rik T C 17: 41,191,193 (GRCm39) R79G probably damaging Het
Aco1 A T 4: 40,164,607 (GRCm39) probably null Het
Acp6 C T 3: 97,073,201 (GRCm39) R81W probably damaging Het
Agbl1 A C 7: 76,239,129 (GRCm39) Y543S probably damaging Het
Anapc7 T C 5: 122,571,539 (GRCm39) W205R probably damaging Het
Ap1g2 T A 14: 55,338,886 (GRCm39) M532L probably damaging Het
Appl1 A G 14: 26,647,470 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,976,624 (GRCm39) F462S probably damaging Het
Astn1 A G 1: 158,332,886 (GRCm39) probably null Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cadm2 T C 16: 66,679,683 (GRCm39) D50G probably damaging Het
Ccdc81 G A 7: 89,531,502 (GRCm39) Q324* probably null Het
Cd300lf A G 11: 115,011,206 (GRCm39) V178A probably benign Het
Cdt1 T C 8: 123,298,791 (GRCm39) V476A possibly damaging Het
Cenpj A G 14: 56,796,182 (GRCm39) V225A probably benign Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Cfap54 A G 10: 92,870,572 (GRCm39) S684P possibly damaging Het
Clip1 C A 5: 123,791,559 (GRCm39) V204F probably damaging Het
Cnpy4 A G 5: 138,191,102 (GRCm39) E226G probably benign Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Cpsf1 T C 15: 76,486,356 (GRCm39) M335V probably benign Het
Dnmt3b C A 2: 153,518,679 (GRCm39) A614E probably benign Het
Dpm1 C T 2: 168,059,655 (GRCm39) R147Q possibly damaging Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Engase T C 11: 118,369,759 (GRCm39) F57S probably damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gkn2 T A 6: 87,355,137 (GRCm39) Y115* probably null Het
Gtdc1 A G 2: 44,481,926 (GRCm39) S246P probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Herc2 C T 7: 55,839,561 (GRCm39) S3357L possibly damaging Het
Herc6 T A 6: 57,639,060 (GRCm39) Y840* probably null Het
Hoxa10 GGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTG 6: 52,211,472 (GRCm39) probably benign Het
Ift122 T C 6: 115,871,382 (GRCm39) probably null Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Itgb2 A T 10: 77,384,457 (GRCm39) N193Y possibly damaging Het
Itgb5 T G 16: 33,730,839 (GRCm39) I65S probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Kcnt2 A T 1: 140,512,031 (GRCm39) H995L probably damaging Het
Kif20b T C 19: 34,918,608 (GRCm39) probably benign Het
Kif7 T C 7: 79,360,211 (GRCm39) Y342C probably damaging Het
Klhl21 T C 4: 152,099,877 (GRCm39) V529A possibly damaging Het
Klhl26 T C 8: 70,904,383 (GRCm39) D475G probably damaging Het
Lcor T C 19: 41,547,567 (GRCm39) Y384H probably damaging Het
Lrp1b A T 2: 40,809,179 (GRCm39) C2463* probably null Het
Marchf6 T C 15: 31,459,339 (GRCm39) E909G possibly damaging Het
Mrc1 A T 2: 14,313,488 (GRCm39) probably null Het
Mtrex T C 13: 113,024,024 (GRCm39) N707S probably benign Het
Nipal4 T A 11: 46,041,560 (GRCm39) I212F probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Nwd2 A G 5: 63,965,009 (GRCm39) E1531G possibly damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Opa1 T C 16: 29,444,403 (GRCm39) V863A possibly damaging Het
Or5ac22 T G 16: 59,135,326 (GRCm39) Y148S probably damaging Het
Pabpc4l A T 3: 46,400,798 (GRCm39) M282K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcnx3 T C 19: 5,722,684 (GRCm39) D1336G probably damaging Het
Phlpp1 T C 1: 106,246,580 (GRCm39) V590A possibly damaging Het
Rbck1 T A 2: 152,160,276 (GRCm39) T468S probably damaging Het
Ripor2 T A 13: 24,877,870 (GRCm39) I290N probably damaging Het
Rnf139 T C 15: 58,771,346 (GRCm39) L457P probably damaging Het
Rtn1 C A 12: 72,351,184 (GRCm39) A342S possibly damaging Het
Sema3d A G 5: 12,534,988 (GRCm39) probably null Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Sez6l2 T C 7: 126,552,668 (GRCm39) V148A probably damaging Het
Shank2 C A 7: 143,740,595 (GRCm39) S568* probably null Het
Slc10a4 T C 5: 73,169,490 (GRCm39) S372P possibly damaging Het
Slc10a5 T C 3: 10,400,550 (GRCm39) T37A probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Slc6a20b G T 9: 123,461,269 (GRCm39) D52E probably benign Het
Slc6a5 T C 7: 49,601,182 (GRCm39) M661T probably benign Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Steap4 G T 5: 8,025,892 (GRCm39) R151L probably damaging Het
Sun5 T A 2: 153,707,915 (GRCm39) I107L probably benign Het
Tacc1 C T 8: 25,665,269 (GRCm39) V488M probably damaging Het
Tgs1 A G 4: 3,614,928 (GRCm39) T829A probably benign Het
Tnxb A G 17: 34,914,799 (GRCm39) E1929G probably damaging Het
Tssc4 A C 7: 142,624,292 (GRCm39) Q200P probably damaging Het
Ttn A G 2: 76,588,876 (GRCm39) W21398R probably damaging Het
Usp50 C T 2: 126,619,818 (GRCm39) probably null Het
Usp9y A T Y: 1,448,829 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Zfat T C 15: 67,973,388 (GRCm39) T1118A probably benign Het
Other mutations in Fam20a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Fam20a APN 11 109,568,588 (GRCm39) splice site probably benign
IGL01296:Fam20a APN 11 109,576,177 (GRCm39) missense possibly damaging 0.93
IGL01319:Fam20a APN 11 109,569,284 (GRCm39) splice site probably benign
IGL01322:Fam20a APN 11 109,573,738 (GRCm39) missense probably damaging 1.00
IGL02086:Fam20a APN 11 109,564,239 (GRCm39) missense probably benign 0.00
IGL02563:Fam20a APN 11 109,568,620 (GRCm39) missense possibly damaging 0.53
IGL02883:Fam20a APN 11 109,565,953 (GRCm39) missense probably damaging 0.99
IGL02893:Fam20a APN 11 109,612,414 (GRCm39) missense probably benign 0.00
Infamy UTSW 11 109,564,168 (GRCm39) missense possibly damaging 0.87
snide UTSW 11 109,612,201 (GRCm39) missense possibly damaging 0.92
ungainly UTSW 11 109,573,696 (GRCm39) nonsense probably null
P0026:Fam20a UTSW 11 109,566,667 (GRCm39) critical splice donor site probably null
R0726:Fam20a UTSW 11 109,568,020 (GRCm39) missense probably damaging 1.00
R1317:Fam20a UTSW 11 109,568,664 (GRCm39) missense probably damaging 0.99
R1462:Fam20a UTSW 11 109,568,143 (GRCm39) missense probably damaging 1.00
R1462:Fam20a UTSW 11 109,568,143 (GRCm39) missense probably damaging 1.00
R1751:Fam20a UTSW 11 109,568,664 (GRCm39) missense probably damaging 0.99
R1761:Fam20a UTSW 11 109,568,664 (GRCm39) missense probably damaging 0.99
R1895:Fam20a UTSW 11 109,564,380 (GRCm39) missense probably benign 0.30
R1971:Fam20a UTSW 11 109,576,237 (GRCm39) missense probably damaging 1.00
R2192:Fam20a UTSW 11 109,565,449 (GRCm39) missense probably benign 0.13
R3745:Fam20a UTSW 11 109,568,616 (GRCm39) missense probably benign 0.17
R4684:Fam20a UTSW 11 109,612,513 (GRCm39) missense unknown
R4835:Fam20a UTSW 11 109,564,389 (GRCm39) missense probably benign 0.40
R5045:Fam20a UTSW 11 109,568,711 (GRCm39) missense probably benign 0.38
R5161:Fam20a UTSW 11 109,564,196 (GRCm39) missense probably benign 0.00
R5715:Fam20a UTSW 11 109,569,257 (GRCm39) missense probably damaging 1.00
R5817:Fam20a UTSW 11 109,564,244 (GRCm39) missense possibly damaging 0.81
R5960:Fam20a UTSW 11 109,566,795 (GRCm39) intron probably benign
R6162:Fam20a UTSW 11 109,573,696 (GRCm39) nonsense probably null
R6312:Fam20a UTSW 11 109,565,456 (GRCm39) missense probably damaging 1.00
R7231:Fam20a UTSW 11 109,612,201 (GRCm39) missense possibly damaging 0.92
R7311:Fam20a UTSW 11 109,565,454 (GRCm39) nonsense probably null
R7366:Fam20a UTSW 11 109,564,168 (GRCm39) missense possibly damaging 0.87
R8013:Fam20a UTSW 11 109,576,332 (GRCm39) missense possibly damaging 0.92
R8014:Fam20a UTSW 11 109,576,332 (GRCm39) missense possibly damaging 0.92
R9086:Fam20a UTSW 11 109,566,754 (GRCm39) nonsense probably null
R9751:Fam20a UTSW 11 109,565,992 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACGTTGTGCTGACCCTTC -3'
(R):5'- AGTCAGTCAGTCTCTGTCTGTC -3'

Sequencing Primer
(F):5'- GGCTATGACTCTTCGCTCG -3'
(R):5'- AGTCAGTCTCTGTCTGTCTGTCTG -3'
Posted On 2014-06-30