Incidental Mutation 'R1895:Fam20a'
ID 209766
Institutional Source Beutler Lab
Gene Symbol Fam20a
Ensembl Gene ENSMUSG00000020614
Gene Name FAM20A, golgi associated secretory pathway pseudokinase
Synonyms
MMRRC Submission 039915-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1895 (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: 93.2%
  • 20x: 86.6%
Validation Efficiency 96% (100/104)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,039,551 (GRCm39) S253P probably damaging Het
Adgrb1 A G 15: 74,412,314 (GRCm39) D431G probably damaging Het
Adgrv1 C T 13: 81,522,368 (GRCm39) C5923Y probably damaging Het
Akr1b10 T A 6: 34,365,805 (GRCm39) I110N probably damaging Het
Apba2 T C 7: 64,394,378 (GRCm39) probably null Het
Arhgef12 G T 9: 42,917,152 (GRCm39) Q396K probably damaging Het
Arpc1b A G 5: 145,059,443 (GRCm39) T56A probably null Het
Atoh1 T C 6: 64,706,443 (GRCm39) V46A probably benign Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Capn13 T C 17: 73,657,520 (GRCm39) E240G possibly damaging Het
Cdh8 T C 8: 100,006,189 (GRCm39) T133A possibly damaging Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Col4a3 A T 1: 82,656,829 (GRCm39) K749N unknown Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Coq8b G A 7: 26,939,299 (GRCm39) V150I possibly damaging Het
Dmxl1 G T 18: 50,088,981 (GRCm39) probably null Het
Dnah10 A G 5: 124,835,494 (GRCm39) D990G probably benign Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Eif3l A G 15: 78,973,677 (GRCm39) N364S possibly damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
F930017D23Rik G A 10: 43,469,440 (GRCm39) noncoding transcript Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fut2 A G 7: 45,300,748 (GRCm39) F8S probably damaging Het
Gad2 A T 2: 22,575,440 (GRCm39) T515S probably benign Het
Glmn T C 5: 107,718,110 (GRCm39) D269G probably benign Het
Gpatch4 A G 3: 87,959,409 (GRCm39) Y106C probably damaging Het
Grm3 A G 5: 9,562,123 (GRCm39) W576R probably damaging Het
Hdac7 T C 15: 97,694,767 (GRCm39) D701G probably damaging Het
Hectd2 T A 19: 36,591,860 (GRCm39) I687K probably damaging Het
Hmcn2 T C 2: 31,295,647 (GRCm39) S2619P probably damaging Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Kdm4b T A 17: 56,704,340 (GRCm39) V272E probably damaging Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kif11 G A 19: 37,375,847 (GRCm39) R220K probably damaging Het
Kmt2c A T 5: 25,520,152 (GRCm39) V1986E probably benign Het
Lrp11 T C 10: 7,499,540 (GRCm39) Y244H probably damaging Het
Lrp1b T A 2: 40,555,159 (GRCm39) D320V unknown Het
Map4k5 A T 12: 69,892,529 (GRCm39) D133E probably damaging Het
Megf11 A T 9: 64,586,558 (GRCm39) D461V probably damaging Het
Muc5b A C 7: 141,411,382 (GRCm39) T1443P unknown Het
Mxi1 G A 19: 53,358,775 (GRCm39) R236H probably benign Het
Nav1 A T 1: 135,386,396 (GRCm39) W1211R probably damaging Het
Ncoa3 T A 2: 165,901,097 (GRCm39) N896K possibly damaging Het
Nmt2 T A 2: 3,323,672 (GRCm39) I355N probably benign Het
Nxpe5 T C 5: 138,249,785 (GRCm39) V525A probably damaging Het
Oas1f A T 5: 120,993,648 (GRCm39) T287S probably benign Het
Or1n1b A T 2: 36,780,458 (GRCm39) M134K possibly damaging Het
Or5ae1 T C 7: 84,565,487 (GRCm39) S167P probably benign Het
Or6ae1 T A 7: 139,742,726 (GRCm39) I46F possibly damaging Het
Or7a38 T A 10: 78,752,758 (GRCm39) I28N probably damaging Het
Or8b3 T A 9: 38,314,182 (GRCm39) M1K probably null Het
Pakap T C 4: 57,638,068 (GRCm39) V35A probably benign Het
Panx1 A G 9: 14,918,822 (GRCm39) C346R probably benign Het
Plekha7 T C 7: 115,744,209 (GRCm39) E764G probably damaging Het
Plet1 A G 9: 50,415,652 (GRCm39) probably null Het
Plod2 A G 9: 92,489,188 (GRCm39) S707G probably damaging Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Pramel31 T A 4: 144,088,435 (GRCm39) V77E probably benign Het
Prob1 T A 18: 35,785,942 (GRCm39) T771S possibly damaging Het
Rasa3 A G 8: 13,681,768 (GRCm39) probably benign Het
Ror2 T C 13: 53,285,885 (GRCm39) I110V probably damaging Het
Sec24d A T 3: 123,147,043 (GRCm39) H667L probably benign Het
Sema3d A G 5: 12,623,810 (GRCm39) Q573R probably damaging Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Slc11a2 G A 15: 100,301,775 (GRCm39) R249C probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Snx19 T A 9: 30,343,620 (GRCm39) N593K probably damaging Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Stil T C 4: 114,881,072 (GRCm39) S539P probably benign Het
Syt4 T C 18: 31,577,141 (GRCm39) K71R probably damaging Het
Tenm4 A T 7: 96,385,015 (GRCm39) H524L probably damaging Het
Tex30 C T 1: 44,130,564 (GRCm39) G68D probably damaging Het
Tm4sf19 A G 16: 32,226,500 (GRCm39) Y138C probably damaging Het
Tmem43 A T 6: 91,463,891 (GRCm39) I389F probably benign Het
Trpm1 A T 7: 63,873,556 (GRCm39) N488Y probably damaging Het
Tshz1 A T 18: 84,031,558 (GRCm39) L950Q probably damaging Het
Vmn1r16 T C 6: 57,299,885 (GRCm39) I246V probably benign Het
Vmn1r188 T G 13: 22,272,815 (GRCm39) S256R possibly damaging Het
Zfp12 G A 5: 143,231,133 (GRCm39) E487K probably damaging 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
R1889: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'- TGACCCTTCGGCTATGACTC -3'
(R):5'- AGTCAGTCAGTCTCTGTCTGTC -3'

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