Incidental Mutation 'R2301:Fam222b'
ID 244429
Institutional Source Beutler Lab
Gene Symbol Fam222b
Ensembl Gene ENSMUSG00000037750
Gene Name family with sequence similarity 222, member B
Synonyms BC017647
MMRRC Submission 040300-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R2301 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 77985486-78047526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78045369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 310 (V310A)
Ref Sequence ENSEMBL: ENSMUSP00000121832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017530] [ENSMUST00000073705] [ENSMUST00000100782] [ENSMUST00000155571]
AlphaFold Q6P539
Predicted Effect probably benign
Transcript: ENSMUST00000017530
SMART Domains Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386

DomainStartEndE-ValueType
RING 18 57 1.41e-4 SMART
Pfam:zf-TRAF 102 156 3.4e-19 PFAM
Pfam:zf-TRAF 156 210 4e-12 PFAM
Pfam:zf-TRAF 210 269 4.2e-23 PFAM
low complexity region 287 302 N/A INTRINSIC
MATH 312 445 1.04e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000073705
AA Change: V310A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: V310A

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 5.6e-233 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100782
AA Change: V182A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750
AA Change: V182A

DomainStartEndE-ValueType
Pfam:FAM222A 1 434 1.9e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149437
Predicted Effect probably damaging
Transcript: ENSMUST00000155571
AA Change: V310A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: V310A

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 3.2e-259 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Catsper1 A G 19: 5,390,426 (GRCm39) K602E probably benign Het
Chst13 A T 6: 90,295,271 (GRCm39) S47R probably damaging Het
Clrn1 T G 3: 58,753,773 (GRCm39) Y196S probably damaging Het
Csmd3 A G 15: 47,595,394 (GRCm39) S2022P probably damaging Het
Dnhd1 T A 7: 105,354,606 (GRCm39) F3123I probably damaging Het
Dpp9 C T 17: 56,501,973 (GRCm39) E532K probably benign Het
Eif4g3 T A 4: 137,899,970 (GRCm39) D970E probably damaging Het
Gm16380 A G 9: 53,791,484 (GRCm39) noncoding transcript Het
Gtf2a1l G T 17: 89,018,900 (GRCm39) R328L probably benign Het
Hectd4 T A 5: 121,491,600 (GRCm39) F3679L probably benign Het
Itgb8 T C 12: 119,166,190 (GRCm39) I114V probably benign Het
Klf10 A G 15: 38,297,326 (GRCm39) V223A possibly damaging Het
Lyn G A 4: 3,780,959 (GRCm39) R345H probably damaging Het
Med13l T A 5: 118,731,512 (GRCm39) C63S probably damaging Het
Nlrp1a T C 11: 70,996,927 (GRCm39) T960A possibly damaging Het
Ogfod1 C T 8: 94,763,996 (GRCm39) S27L probably damaging Het
Or4k51 T A 2: 111,584,621 (GRCm39) V9E probably benign Het
Pcdha1 A G 18: 37,289,236 (GRCm39) Y864C probably damaging Het
Pkd1 A G 17: 24,793,586 (GRCm39) K1758E probably benign Het
Polk T C 13: 96,620,652 (GRCm39) E516G probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Sptbn2 G A 19: 4,784,166 (GRCm39) R636Q probably benign Het
Tmem139 G T 6: 42,240,364 (GRCm39) C57F possibly damaging Het
Traf5 T C 1: 191,729,926 (GRCm39) N375S probably benign Het
Tti2 T C 8: 31,645,823 (GRCm39) V379A probably benign Het
Zfp106 T C 2: 120,366,131 (GRCm39) E92G probably benign Het
Other mutations in Fam222b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Fam222b APN 11 78,045,314 (GRCm39) missense probably damaging 0.96
IGL01948:Fam222b APN 11 78,045,165 (GRCm39) missense probably damaging 1.00
IGL02967:Fam222b APN 11 78,044,934 (GRCm39) missense probably benign 0.44
H8562:Fam222b UTSW 11 78,045,404 (GRCm39) missense probably damaging 0.99
R0087:Fam222b UTSW 11 78,044,718 (GRCm39) missense probably benign 0.23
R0385:Fam222b UTSW 11 78,045,756 (GRCm39) missense probably benign 0.01
R0478:Fam222b UTSW 11 78,044,682 (GRCm39) missense probably damaging 1.00
R1565:Fam222b UTSW 11 78,045,488 (GRCm39) missense possibly damaging 0.82
R1586:Fam222b UTSW 11 78,045,347 (GRCm39) missense probably damaging 1.00
R1661:Fam222b UTSW 11 78,045,987 (GRCm39) missense probably damaging 1.00
R1829:Fam222b UTSW 11 78,045,861 (GRCm39) missense probably damaging 0.96
R1878:Fam222b UTSW 11 78,034,042 (GRCm39) critical splice donor site probably null
R3120:Fam222b UTSW 11 78,044,742 (GRCm39) missense probably damaging 1.00
R3915:Fam222b UTSW 11 78,045,756 (GRCm39) missense probably benign 0.26
R4003:Fam222b UTSW 11 78,045,755 (GRCm39) missense probably benign 0.13
R4748:Fam222b UTSW 11 78,045,429 (GRCm39) missense possibly damaging 0.59
R4982:Fam222b UTSW 11 78,045,569 (GRCm39) missense probably damaging 0.98
R5307:Fam222b UTSW 11 78,044,594 (GRCm39) missense probably damaging 1.00
R5590:Fam222b UTSW 11 78,045,858 (GRCm39) missense probably benign 0.16
R5618:Fam222b UTSW 11 78,045,066 (GRCm39) missense probably benign 0.05
R7181:Fam222b UTSW 11 78,045,804 (GRCm39) missense probably damaging 1.00
R7199:Fam222b UTSW 11 78,045,683 (GRCm39) missense possibly damaging 0.55
R7285:Fam222b UTSW 11 78,034,007 (GRCm39) missense probably benign 0.04
R7467:Fam222b UTSW 11 78,045,173 (GRCm39) missense probably damaging 1.00
R7726:Fam222b UTSW 11 78,044,577 (GRCm39) missense probably damaging 1.00
R7804:Fam222b UTSW 11 78,044,979 (GRCm39) missense probably benign 0.00
R7941:Fam222b UTSW 11 78,045,885 (GRCm39) missense possibly damaging 0.90
R9099:Fam222b UTSW 11 78,046,020 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GACCGTGTCTACCTCAACTATC -3'
(R):5'- TCTGTTGTAGGTGAGCCAGC -3'

Sequencing Primer
(F):5'- AACTATCCCCCTTTCAATGGCGG -3'
(R):5'- CTGGTGCTGGTTCCAGGTAAC -3'
Posted On 2014-10-30