Incidental Mutation 'R7804:Fam222b'
ID600681
Institutional Source Beutler Lab
Gene Symbol Fam222b
Ensembl Gene ENSMUSG00000037750
Gene Namefamily with sequence similarity 222, member B
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.251) question?
Stock #R7804 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location78094660-78156700 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 78154153 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 180 (P180Q)
Ref Sequence ENSEMBL: ENSMUSP00000073384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073705] [ENSMUST00000100782] [ENSMUST00000155571]
Predicted Effect probably benign
Transcript: ENSMUST00000073705
AA Change: P180Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: P180Q

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 5.6e-233 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100782
AA Change: P52Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750
AA Change: P52Q

DomainStartEndE-ValueType
Pfam:FAM222A 1 434 1.9e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155571
AA Change: P180Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: P180Q

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 3.2e-259 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (55/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTATGTGT GTGTGT 11: 43,587,414 probably benign Het
Ago4 A T 4: 126,512,630 C296S probably benign Het
Apbb1 A G 7: 105,566,600 L401P probably damaging Het
Cacnb2 C A 2: 14,968,037 P252T probably benign Het
Ctnna2 C T 6: 77,641,374 V202I probably benign Het
Dapk1 A T 13: 60,725,339 I352F probably benign Het
Dexi T C 16: 10,542,485 D69G possibly damaging Het
Dgcr14 T A 16: 17,911,167 I47F probably damaging Het
Dlg5 T C 14: 24,165,320 E645G possibly damaging Het
Dnah3 A G 7: 119,952,618 I2826T probably damaging Het
Dnah3 A G 7: 120,011,012 W1734R probably damaging Het
Dtna A G 18: 23,595,609 K287R probably damaging Het
Elovl5 A G 9: 77,979,823 probably null Het
Fat3 C T 9: 15,990,592 V3046I probably benign Het
Fem1a A G 17: 56,258,068 D387G probably damaging Het
Frmd5 A G 2: 121,591,744 Y33H probably damaging Het
Gucy2g A T 19: 55,228,152 L464H probably benign Het
Ints2 T C 11: 86,212,663 E1189G possibly damaging Het
Itgb4 T C 11: 116,003,684 V1355A probably damaging Het
Lepr A T 4: 101,782,586 S750C probably damaging Het
Lingo1 T C 9: 56,619,514 D603G probably benign Het
Map4k3 A C 17: 80,615,070 V474G probably damaging Het
Myl4 T A 11: 104,584,961 V167E probably damaging Het
Naa25 T C 5: 121,424,589 V478A probably benign Het
Neurl4 T A 11: 69,905,874 L487H probably benign Het
Nkx2-9 C T 12: 56,612,132 R99H probably damaging Het
Olfr1215 C G 2: 89,001,511 R259P unknown Het
Olfr686 A T 7: 105,204,160 M61K probably damaging Het
Olfr809 A G 10: 129,776,222 I103V probably benign Het
Pcdhga9 A G 18: 37,738,079 I320M probably damaging Het
Pi15 T A 1: 17,624,913 C251* probably null Het
Pkhd1l1 A T 15: 44,597,138 K4248* probably null Het
Prkg1 C T 19: 30,578,632 V625I probably benign Het
Prkg1 G A 19: 30,624,770 A362V possibly damaging Het
Prol1 C T 5: 88,328,405 T218I unknown Het
Ptpro G A 6: 137,399,601 probably null Het
Rev3l T A 10: 39,823,485 I1326K probably benign Het
Shank1 C A 7: 44,312,884 R60S unknown Het
Slc24a2 A G 4: 86,991,537 V648A probably damaging Het
Slc35d3 T C 10: 19,849,370 T247A probably damaging Het
Specc1 C T 11: 62,205,397 T895I probably damaging Het
Spta1 A G 1: 174,195,905 E626G possibly damaging Het
Syngr2 C A 11: 117,812,575 S72R possibly damaging Het
Synj2 T A 17: 6,019,534 L490Q unknown Het
Tbc1d9 T C 8: 83,236,712 L351P possibly damaging Het
Tcof1 G C 18: 60,829,051 A702G possibly damaging Het
Themis3 G A 17: 66,555,610 T451I probably benign Het
Tia1 T C 6: 86,424,382 S146P probably benign Het
Tpp2 T A 1: 43,983,281 N946K probably benign Het
Tpr A T 1: 150,432,559 R1688S probably damaging Het
Trav12-1 A G 14: 53,538,531 Q47R possibly damaging Het
Ttll9 G A 2: 153,002,358 probably null Het
Ttn G A 2: 76,707,241 T34781M possibly damaging Het
V1ra8 A G 6: 90,203,316 Y167C probably damaging Het
Vegfb T C 19: 6,986,339 D84G probably damaging Het
Vmn2r14 A T 5: 109,220,458 L223M probably benign Het
Wdr26 A G 1: 181,182,822 I554T probably damaging Het
Other mutations in Fam222b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Fam222b APN 11 78154488 missense probably damaging 0.96
IGL01948:Fam222b APN 11 78154339 missense probably damaging 1.00
IGL02967:Fam222b APN 11 78154108 missense probably benign 0.44
H8562:Fam222b UTSW 11 78154578 missense probably damaging 0.99
R0087:Fam222b UTSW 11 78153892 missense probably benign 0.23
R0385:Fam222b UTSW 11 78154930 missense probably benign 0.01
R0478:Fam222b UTSW 11 78153856 missense probably damaging 1.00
R1565:Fam222b UTSW 11 78154662 missense possibly damaging 0.82
R1586:Fam222b UTSW 11 78154521 missense probably damaging 1.00
R1661:Fam222b UTSW 11 78155161 missense probably damaging 1.00
R1829:Fam222b UTSW 11 78155035 missense probably damaging 0.96
R1878:Fam222b UTSW 11 78143216 critical splice donor site probably null
R2301:Fam222b UTSW 11 78154543 missense probably damaging 1.00
R3120:Fam222b UTSW 11 78153916 missense probably damaging 1.00
R3915:Fam222b UTSW 11 78154930 missense probably benign 0.26
R4003:Fam222b UTSW 11 78154929 missense probably benign 0.13
R4748:Fam222b UTSW 11 78154603 missense possibly damaging 0.59
R4982:Fam222b UTSW 11 78154743 missense probably damaging 0.98
R5307:Fam222b UTSW 11 78153768 missense probably damaging 1.00
R5590:Fam222b UTSW 11 78155032 missense probably benign 0.16
R5618:Fam222b UTSW 11 78154240 missense probably benign 0.05
R7181:Fam222b UTSW 11 78154978 missense probably damaging 1.00
R7199:Fam222b UTSW 11 78154857 missense possibly damaging 0.55
R7285:Fam222b UTSW 11 78143181 missense probably benign 0.04
R7467:Fam222b UTSW 11 78154347 missense probably damaging 1.00
R7726:Fam222b UTSW 11 78153751 missense probably damaging 1.00
R7941:Fam222b UTSW 11 78155059 missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CTCAAGGACTTTGACGGCAC -3'
(R):5'- TAGACACGGTCACATTCGGG -3'

Sequencing Primer
(F):5'- CGAGCTCGGTTCCTCCCTG -3'
(R):5'- TCACATTCGGGGGTGCATC -3'
Posted On2019-11-26