Incidental Mutation 'IGL02531:Fam210b'
ID 297298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam210b
Ensembl Gene ENSMUSG00000027495
Gene Name family with sequence similarity 210, member B
Synonyms 2010011I20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02531
Quality Score
Status
Chromosome 2
Chromosomal Location 172187485-172197669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172194675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 176 (Y176H)
Ref Sequence ENSEMBL: ENSMUSP00000028995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028995] [ENSMUST00000028997] [ENSMUST00000109139] [ENSMUST00000109140]
AlphaFold Q9D8B6
Predicted Effect probably damaging
Transcript: ENSMUST00000028995
AA Change: Y176H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028995
Gene: ENSMUSG00000027495
AA Change: Y176H

DomainStartEndE-ValueType
Pfam:DUF1279 85 172 4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028997
SMART Domains Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496

DomainStartEndE-ValueType
S_TKc 146 396 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109139
SMART Domains Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109140
SMART Domains Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128004
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,933,429 (GRCm39) H467N unknown Het
Alb A G 5: 90,615,307 (GRCm39) D273G probably damaging Het
Arap3 A G 18: 38,122,804 (GRCm39) S531P probably damaging Het
Bmpr2 T A 1: 59,884,873 (GRCm39) probably null Het
Cfhr4 T C 1: 139,702,307 (GRCm39) K59R probably benign Het
Chd7 G A 4: 8,854,134 (GRCm39) R1902H probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b13 A T 7: 25,761,030 (GRCm39) H29L possibly damaging Het
Enpp5 G T 17: 44,391,843 (GRCm39) V91F probably damaging Het
Fam83b T C 9: 76,399,282 (GRCm39) E607G possibly damaging Het
Hhla1 C T 15: 65,839,256 (GRCm39) probably benign Het
Kdm3b A G 18: 34,928,782 (GRCm39) T178A probably benign Het
Klf1 T A 8: 85,631,437 (GRCm39) F334I probably damaging Het
Klra8 A G 6: 130,095,933 (GRCm39) S220P possibly damaging Het
Medag A G 5: 149,345,616 (GRCm39) N99S probably benign Het
Muc6 T C 7: 141,216,853 (GRCm39) T2607A possibly damaging Het
Mug2 T G 6: 122,049,730 (GRCm39) L921R probably damaging Het
Nacad T C 11: 6,548,580 (GRCm39) N1385D possibly damaging Het
Nin A G 12: 70,067,706 (GRCm39) F1983L probably benign Het
Nipal4 T C 11: 46,042,152 (GRCm39) I176M probably damaging Het
Orc6 T C 8: 86,029,998 (GRCm39) S47P probably damaging Het
Ovch2 C T 7: 107,389,405 (GRCm39) C341Y probably damaging Het
Polq T A 16: 36,882,736 (GRCm39) H1633Q possibly damaging Het
Rab23 T C 1: 33,777,361 (GRCm39) probably benign Het
Rai14 A G 15: 10,574,868 (GRCm39) S697P probably damaging Het
Rnf213 T C 11: 119,327,628 (GRCm39) F1872L probably benign Het
Sdhc T C 1: 170,963,587 (GRCm39) H127R probably damaging Het
Snx9 T C 17: 5,942,095 (GRCm39) V74A probably benign Het
Spata31d1d A G 13: 59,875,748 (GRCm39) S596P possibly damaging Het
Syt14 T C 1: 192,584,242 (GRCm39) *78W probably null Het
Thoc1 A G 18: 9,970,258 (GRCm39) T203A probably benign Het
Trmt13 A G 3: 116,385,840 (GRCm39) probably null Het
Ttc28 A G 5: 111,373,716 (GRCm39) I1020V probably damaging Het
Vmn2r16 A G 5: 109,488,134 (GRCm39) T336A probably damaging Het
Other mutations in Fam210b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Fam210b APN 2 172,193,460 (GRCm39) missense probably damaging 0.99
IGL02142:Fam210b APN 2 172,194,497 (GRCm39) unclassified probably benign
IGL02152:Fam210b APN 2 172,193,423 (GRCm39) missense probably benign 0.02
IGL03051:Fam210b APN 2 172,194,612 (GRCm39) missense probably benign 0.21
R0597:Fam210b UTSW 2 172,187,773 (GRCm39) splice site probably benign
R4117:Fam210b UTSW 2 172,193,486 (GRCm39) missense probably benign 0.25
R4281:Fam210b UTSW 2 172,193,468 (GRCm39) missense probably damaging 0.98
R4978:Fam210b UTSW 2 172,187,585 (GRCm39) missense probably damaging 0.99
R4983:Fam210b UTSW 2 172,187,585 (GRCm39) missense probably damaging 0.99
R5150:Fam210b UTSW 2 172,193,468 (GRCm39) missense probably damaging 0.98
R9544:Fam210b UTSW 2 172,194,633 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16