Incidental Mutation 'R1978:Fam220a'
ID 221986
Institutional Source Beutler Lab
Gene Symbol Fam220a
Ensembl Gene ENSMUSG00000083012
Gene Name family with sequence similarity 220, member A
Synonyms 1500026F15Rik, 2810453I06Rik
MMRRC Submission 039991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R1978 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 143534475-143550286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 143548882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 98 (P98Q)
Ref Sequence ENSEMBL: ENSMUSP00000142548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067145] [ENSMUST00000101434] [ENSMUST00000119488] [ENSMUST00000169329] [ENSMUST00000196487] [ENSMUST00000200267]
AlphaFold Q3ZN08
Predicted Effect probably damaging
Transcript: ENSMUST00000067145
AA Change: P98Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063424
Gene: ENSMUSG00000083012
AA Change: P98Q

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101434
SMART Domains Protein: ENSMUSP00000117552
Gene: ENSMUSG00000083012

DomainStartEndE-ValueType
Pfam:DUF4560 2 65 8.7e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119488
SMART Domains Protein: ENSMUSP00000114024
Gene: ENSMUSG00000083012

DomainStartEndE-ValueType
Pfam:DUF4560 2 65 1.6e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169329
AA Change: P98Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126480
Gene: ENSMUSG00000083012
AA Change: P98Q

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196487
AA Change: P98Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143202
Gene: ENSMUSG00000083012
AA Change: P98Q

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200267
AA Change: P98Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142548
Gene: ENSMUSG00000083012
AA Change: P98Q

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,880 (GRCm39) C205* probably null Het
4921539E11Rik T A 4: 103,127,961 (GRCm39) T55S possibly damaging Het
Akap12 A G 10: 4,263,855 (GRCm39) D88G probably benign Het
Ankrd53 C A 6: 83,740,185 (GRCm39) F84L probably damaging Het
Apol7b A C 15: 77,307,539 (GRCm39) F319V probably damaging Het
Bsn A G 9: 107,991,748 (GRCm39) S1335P probably benign Het
Cep192 T C 18: 67,936,228 (GRCm39) probably null Het
Cfap57 A G 4: 118,450,329 (GRCm39) S598P probably benign Het
Commd8 T C 5: 72,322,842 (GRCm39) H25R probably damaging Het
Crisp4 T C 1: 18,198,889 (GRCm39) I143V probably benign Het
Cyp4a12b A T 4: 115,295,342 (GRCm39) T483S probably benign Het
Dbx2 C T 15: 95,530,234 (GRCm39) M244I probably damaging Het
Dnah6 T G 6: 73,098,953 (GRCm39) H1982P possibly damaging Het
Ggnbp1 A G 17: 27,248,517 (GRCm39) K29E possibly damaging Het
Gm14569 A C X: 35,695,781 (GRCm39) M976R probably benign Het
Hck G T 2: 152,971,776 (GRCm39) W112C probably damaging Het
Heatr5a A T 12: 51,986,441 (GRCm39) S591T possibly damaging Het
Hhat A G 1: 192,399,415 (GRCm39) S242P probably benign Het
Hnrnpll A G 17: 80,351,947 (GRCm39) S333P probably benign Het
Hoxc6 T C 15: 102,918,439 (GRCm39) probably null Het
Inpp5j G A 11: 3,452,150 (GRCm39) P367S probably damaging Het
Lamc2 A G 1: 153,009,343 (GRCm39) probably null Het
Loxhd1 T A 18: 77,409,338 (GRCm39) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,040,941 (GRCm39) probably null Het
Mkln1 C T 6: 31,467,465 (GRCm39) Q60* probably null Het
Muc21 T A 17: 35,933,857 (GRCm39) probably benign Het
Mybph C A 1: 134,124,734 (GRCm39) H185N probably benign Het
Myo1g T C 11: 6,470,829 (GRCm39) D9G possibly damaging Het
Myo6 A T 9: 80,136,207 (GRCm39) D110V probably damaging Het
Ncoa7 A G 10: 30,567,295 (GRCm39) V412A probably benign Het
Neb T C 2: 52,177,357 (GRCm39) K1328R probably damaging Het
Olfm5 T A 7: 103,813,948 (GRCm39) Q22L unknown Het
Or10ak7 A T 4: 118,791,381 (GRCm39) Y221* probably null Het
Or4d11 T C 19: 12,013,705 (GRCm39) T134A probably benign Het
Or5j1 C T 2: 86,879,179 (GRCm39) V134M possibly damaging Het
Or6b3 C A 1: 92,439,499 (GRCm39) G84C probably damaging Het
Or6p1 T A 1: 174,258,657 (GRCm39) I221N probably damaging Het
Or7a39 A G 10: 78,715,114 (GRCm39) Y36C probably damaging Het
P3h1 A T 4: 119,105,173 (GRCm39) Q717L probably null Het
Pclo T C 5: 14,763,809 (GRCm39) I4094T unknown Het
Pfdn6 G A 17: 34,158,051 (GRCm39) R73W probably benign Het
Phyhipl A C 10: 70,395,591 (GRCm39) M205R possibly damaging Het
Pitpnm1 C T 19: 4,157,973 (GRCm39) probably null Het
Plcg1 A G 2: 160,594,498 (GRCm39) probably null Het
Pnldc1 A G 17: 13,125,392 (GRCm39) S81P possibly damaging Het
Pno1 T C 11: 17,154,519 (GRCm39) I221V possibly damaging Het
Porcn A G X: 8,070,540 (GRCm39) V75A probably damaging Het
Prkcg T A 7: 3,353,862 (GRCm39) C69S probably damaging Het
Rbbp6 G T 7: 122,598,711 (GRCm39) probably benign Het
Resf1 T A 6: 149,227,930 (GRCm39) N325K probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scly A G 1: 91,247,891 (GRCm39) D413G probably damaging Het
Scn11a G A 9: 119,609,861 (GRCm39) R996* probably null Het
Skic3 T C 13: 76,282,934 (GRCm39) V752A probably benign Het
Slc6a13 A T 6: 121,309,332 (GRCm39) D281V probably damaging Het
Slfn5 T C 11: 82,847,442 (GRCm39) V109A probably benign Het
Smyd1 A T 6: 71,289,703 (GRCm39) probably null Het
Snx29 T A 16: 11,185,588 (GRCm39) M57K probably benign Het
Stag1 T G 9: 100,770,139 (GRCm39) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm39) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,009,714 (GRCm39) I392V probably benign Het
Tchh T C 3: 93,354,106 (GRCm39) L1182P unknown Het
Tle3 T A 9: 61,301,915 (GRCm39) V108E probably damaging Het
Tmem144 T C 3: 79,732,707 (GRCm39) probably null Het
Tpr T G 1: 150,295,658 (GRCm39) L894V possibly damaging Het
Trappc9 A T 15: 72,871,874 (GRCm39) V472E probably damaging Het
Trim38 T C 13: 23,975,081 (GRCm39) V340A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,136,494 (GRCm39) I197N possibly damaging Het
Vmn1r26 T C 6: 57,986,111 (GRCm39) Y26C possibly damaging Het
Vwa3a A G 7: 120,358,177 (GRCm39) I83V probably null Het
Xirp1 C T 9: 119,847,657 (GRCm39) E409K probably benign Het
Zc3h14 T G 12: 98,730,181 (GRCm39) I46R probably damaging Het
Zfp976 A G 7: 42,263,265 (GRCm39) C191R probably damaging Het
Other mutations in Fam220a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02266:Fam220a APN 5 143,549,326 (GRCm39) missense possibly damaging 0.51
R4260:Fam220a UTSW 5 143,548,762 (GRCm39) missense possibly damaging 0.64
R5711:Fam220a UTSW 5 143,549,212 (GRCm39) missense probably damaging 0.98
R6086:Fam220a UTSW 5 143,548,796 (GRCm39) missense probably benign 0.12
R7466:Fam220a UTSW 5 143,549,226 (GRCm39) missense possibly damaging 0.93
R7823:Fam220a UTSW 5 143,549,011 (GRCm39) missense probably damaging 0.99
R8425:Fam220a UTSW 5 143,548,594 (GRCm39) missense possibly damaging 0.53
R8900:Fam220a UTSW 5 143,549,228 (GRCm39) nonsense probably null
X0013:Fam220a UTSW 5 143,549,268 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- CATCAGTTGTGCCTTCTTGGAC -3'
(R):5'- GGTTCACCTCTTAGGAATCCC -3'

Sequencing Primer
(F):5'- AGTTGTGCCTTCTTGGACAGACC -3'
(R):5'- CCCTCAGTTTTGGATGGCCTG -3'
Posted On 2014-08-25