Incidental Mutation 'R3120:Fam222b'
ID 263181
Institutional Source Beutler Lab
Gene Symbol Fam222b
Ensembl Gene ENSMUSG00000037750
Gene Name family with sequence similarity 222, member B
Synonyms BC017647
MMRRC Submission 040593-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R3120 (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 78044742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 101 (L101P)
Ref Sequence ENSEMBL: ENSMUSP00000121832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073705] [ENSMUST00000100782] [ENSMUST00000155571]
AlphaFold Q6P539
Predicted Effect probably damaging
Transcript: ENSMUST00000073705
AA Change: L101P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: L101P

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 5.6e-233 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100782
SMART Domains Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750

DomainStartEndE-ValueType
Pfam:FAM222A 1 434 1.9e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149437
Predicted Effect probably damaging
Transcript: ENSMUST00000155571
AA Change: L101P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: L101P

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 3.2e-259 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsx A G 9: 40,788,908 (GRCm39) K155R possibly damaging Het
Ccdc39 T C 3: 33,891,987 (GRCm39) K162E probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dnah1 G A 14: 30,988,779 (GRCm39) R3351* probably null Het
Eml1 A G 12: 108,479,312 (GRCm39) R362G probably benign Het
Fars2 A G 13: 36,430,400 (GRCm39) E276G probably damaging Het
Gatad1 G T 5: 3,691,456 (GRCm39) Y33* probably null Het
Gclc A C 9: 77,688,552 (GRCm39) E219A possibly damaging Het
Gm4846 A G 1: 166,319,117 (GRCm39) V207A probably benign Het
H1f5 A T 13: 21,964,215 (GRCm39) S170R probably benign Het
Hbq1a T C 11: 32,250,472 (GRCm39) L87P probably damaging Het
Magea6 A T X: 153,707,291 (GRCm39) I255N probably benign Het
Mfsd12 T G 10: 81,197,049 (GRCm39) V206G probably benign Het
Mis18bp1 T C 12: 65,203,762 (GRCm39) probably null Het
Nf1 C A 11: 79,455,725 (GRCm39) T550K probably damaging Het
Nlrp4f T C 13: 65,342,530 (GRCm39) T372A probably benign Het
Or5p70 T C 7: 107,994,930 (GRCm39) I201T possibly damaging Het
Pkdcc T C 17: 83,527,466 (GRCm39) Y215H probably damaging Het
Plekha5 A G 6: 140,537,367 (GRCm39) T253A probably benign Het
Polr2f T A 15: 79,028,788 (GRCm39) probably null Het
Prph2 C T 17: 47,234,298 (GRCm39) A289V possibly damaging Het
Ptdss2 C T 7: 140,732,132 (GRCm39) H140Y probably damaging Het
Rlf T A 4: 121,006,680 (GRCm39) I877L probably benign Het
Scgb2b2 T C 7: 31,003,001 (GRCm39) L32S possibly damaging Het
Sfpq T A 4: 126,915,926 (GRCm39) H239Q unknown Het
St6gal2 A T 17: 55,789,111 (GRCm39) R48S probably benign Het
Sybu T C 15: 44,536,355 (GRCm39) D657G possibly damaging Het
Syt15 A G 14: 33,944,950 (GRCm39) I166V probably benign Het
Taar7f C A 10: 23,925,478 (GRCm39) T24K probably benign Het
Tbcd T C 11: 121,499,474 (GRCm39) S1093P probably damaging Het
Tfap2c G A 2: 172,399,015 (GRCm39) V396M possibly damaging Het
Tnxb C T 17: 34,911,329 (GRCm39) T1544I possibly damaging Het
Trim28 A G 7: 12,762,341 (GRCm39) T322A probably damaging Het
Tubgcp3 G A 8: 12,707,626 (GRCm39) A121V possibly damaging Het
Vmn2r14 A T 5: 109,372,431 (GRCm39) W20R probably null Het
Zfp551 A G 7: 12,149,943 (GRCm39) F489L possibly damaging 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
R2301:Fam222b UTSW 11 78,045,369 (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'- TGGACGCGTATGCTAAGAAG -3'
(R):5'- CTCCATGCAGCAAGGGATTAGG -3'

Sequencing Primer
(F):5'- CGCGTATGCTAAGAAGGTCGC -3'
(R):5'- TGCTGGAGACCCTGATGAGTC -3'
Posted On 2015-02-05