Incidental Mutation 'H8562:Fam222b'
ID 44365
Institutional Source Beutler Lab
Gene Symbol Fam222b
Ensembl Gene ENSMUSG00000037750
Gene Name family with sequence similarity 222, member B
Synonyms BC017647
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # H8562 (G3) of strain 604
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 77985486-78047526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78045404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 194 (C194S)
Ref Sequence ENSEMBL: ENSMUSP00000126620 (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: C322S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: C322S

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 5.6e-233 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100782
AA Change: C194S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750
AA Change: C194S

DomainStartEndE-ValueType
Pfam:FAM222A 1 434 1.9e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149437
Predicted Effect probably damaging
Transcript: ENSMUST00000155571
AA Change: C322S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: C322S

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 3.2e-259 PFAM
Meta Mutation Damage Score 0.5663 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 96% (109/114)
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,717 (GRCm39) C400R probably damaging Het
4930519F16Rik A T X: 102,299,463 (GRCm39) noncoding transcript Het
5430402E10Rik G T X: 76,966,340 (GRCm39) H117Q probably damaging Het
Abca15 T C 7: 119,974,077 (GRCm39) probably benign Het
Abca8a A G 11: 109,933,835 (GRCm39) I1190T probably benign Het
Acmsd T C 1: 127,676,795 (GRCm39) Y107H probably benign Het
Adcy5 A G 16: 35,087,551 (GRCm39) I471V probably damaging Het
Aff2 G A X: 68,892,532 (GRCm39) A939T unknown Het
Ampd2 C A 3: 107,988,427 (GRCm39) A11S probably benign Het
Aoah T A 13: 21,000,694 (GRCm39) C43S probably damaging Het
Apobec4 T C 1: 152,632,925 (GRCm39) S318P probably damaging Het
Arid2 C T 15: 96,267,427 (GRCm39) P636S possibly damaging Het
Atp13a3 A T 16: 30,178,543 (GRCm39) C164* probably null Het
Avl9 G A 6: 56,734,295 (GRCm39) A625T probably damaging Het
Bco1 G T 8: 117,832,386 (GRCm39) probably benign Het
Brd3 C T 2: 27,340,545 (GRCm39) G555S possibly damaging Het
Brd4 A T 17: 32,448,377 (GRCm39) probably benign Het
Btbd7 A G 12: 102,754,561 (GRCm39) V735A probably benign Het
C2cd2 G T 16: 97,680,840 (GRCm39) Q325K possibly damaging Het
Carmil1 A G 13: 24,248,630 (GRCm39) V485A probably benign Het
Casz1 T C 4: 149,017,908 (GRCm39) L113P probably damaging Het
Ccdc3 T C 2: 5,143,016 (GRCm39) L91S probably damaging Het
Cd180 A G 13: 102,841,926 (GRCm39) K324R probably benign Het
Cd200r4 A G 16: 44,653,736 (GRCm39) T132A possibly damaging Het
Cops7a A G 6: 124,939,416 (GRCm39) probably benign Het
Cyp2c29 A T 19: 39,298,106 (GRCm39) N217I probably damaging Het
Dapk1 C A 13: 60,909,126 (GRCm39) H1246Q probably damaging Het
Dmbt1 T A 7: 130,713,805 (GRCm39) C1450* probably null Het
Dnah10 T A 5: 124,906,593 (GRCm39) M4151K probably damaging Het
Dnai1 C A 4: 41,629,833 (GRCm39) F452L possibly damaging Het
Dync1h1 T C 12: 110,583,241 (GRCm39) M446T probably benign Het
Dytn A C 1: 63,714,071 (GRCm39) S143A possibly damaging Het
E130308A19Rik T A 4: 59,691,033 (GRCm39) L289Q possibly damaging Het
Efemp2 G T 19: 5,530,677 (GRCm39) V250L probably benign Het
Elmo1 T C 13: 20,465,033 (GRCm39) S201P probably damaging Het
Fam91a1 G A 15: 58,298,970 (GRCm39) probably null Het
Fcf1 T A 12: 85,027,386 (GRCm39) probably benign Het
Fnip1 T A 11: 54,371,123 (GRCm39) F134L probably damaging Het
Fyn T C 10: 39,387,950 (GRCm39) S69P probably benign Het
Gabbr1 T C 17: 37,382,841 (GRCm39) Y845H probably damaging Het
Gfra2 C T 14: 71,215,818 (GRCm39) T169M possibly damaging Het
Gm5435 T C 12: 82,542,449 (GRCm39) noncoding transcript Het
Gm7251 A G 13: 49,959,148 (GRCm39) Y94H probably damaging Het
Gvin3 A G 7: 106,202,356 (GRCm39) F296S probably damaging Het
H2bc15 T C 13: 21,938,648 (GRCm39) V119A probably benign Het
Heatr1 T A 13: 12,423,594 (GRCm39) N530K probably benign Het
Icam5 A T 9: 20,946,442 (GRCm39) E355V probably benign Het
Ighv3-6 A G 12: 114,252,158 (GRCm39) probably benign Het
Intu T C 3: 40,647,103 (GRCm39) S659P probably damaging Het
Ivns1abp T C 1: 151,230,446 (GRCm39) V198A probably damaging Het
Katnb1 T A 8: 95,822,138 (GRCm39) probably benign Het
Kcna5 T C 6: 126,510,386 (GRCm39) S581G probably damaging Het
Kif23 A G 9: 61,831,347 (GRCm39) V741A probably benign Het
Lbr A T 1: 181,648,233 (GRCm39) probably benign Het
Loxhd1 A C 18: 77,429,627 (GRCm39) T508P possibly damaging Het
Lrrk2 T A 15: 91,557,561 (GRCm39) N26K probably benign Het
Ly96 A T 1: 16,761,918 (GRCm39) K41N probably damaging Het
Lypd1 C T 1: 125,838,274 (GRCm39) probably benign Het
Macf1 A G 4: 123,359,833 (GRCm39) V1817A probably benign Het
Mknk2 A G 10: 80,504,768 (GRCm39) probably benign Het
Mmp19 A T 10: 128,631,470 (GRCm39) I117L probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mtrr T C 13: 68,712,496 (GRCm39) H630R probably damaging Het
Nfat5 T C 8: 108,066,014 (GRCm39) probably benign Het
Ngef C A 1: 87,415,529 (GRCm39) K288N possibly damaging Het
Nkain4 T C 2: 180,584,938 (GRCm39) E71G probably benign Het
Odc1 T C 12: 17,598,038 (GRCm39) Y122H probably benign Het
Or1e25 T C 11: 73,494,273 (GRCm39) I289T probably damaging Het
Or2d2 C A 7: 106,728,448 (GRCm39) A51S probably benign Het
Or8g51 C A 9: 38,609,206 (GRCm39) G156V probably damaging Het
Osbpl3 A T 6: 50,324,446 (GRCm39) N190K probably benign Het
Osgepl1 T C 1: 53,354,198 (GRCm39) V54A probably damaging Het
Otogl T C 10: 107,746,817 (GRCm39) Y19C probably benign Het
Pop1 T C 15: 34,530,358 (GRCm39) S919P probably benign Het
Pramel21 T A 4: 143,341,920 (GRCm39) probably benign Het
Prl8a9 A G 13: 27,746,584 (GRCm39) probably benign Het
Prr14l A T 5: 32,951,072 (GRCm39) V1907D probably damaging Het
Ptprn T C 1: 75,231,264 (GRCm39) T547A possibly damaging Het
Rdh14 G T 12: 10,444,709 (GRCm39) V187F probably damaging Het
Rev1 A G 1: 38,095,848 (GRCm39) L853P probably damaging Het
Robo4 T C 9: 37,317,106 (GRCm39) probably benign Het
Ryr2 A G 13: 11,732,027 (GRCm39) probably benign Het
Sec16a G A 2: 26,331,517 (GRCm39) P166L probably benign Het
Slc6a19 G A 13: 73,848,243 (GRCm39) probably benign Het
Slco4c1 T A 1: 96,770,210 (GRCm39) T285S probably benign Het
Speg G T 1: 75,392,241 (GRCm39) A1633S probably benign Het
Srpk1 T A 17: 28,821,707 (GRCm39) T236S probably benign Het
Stxbp5 T C 10: 9,645,187 (GRCm39) N262S probably benign Het
Suco T C 1: 161,680,420 (GRCm39) E317G probably damaging Het
Syk A G 13: 52,794,657 (GRCm39) N441D probably damaging Het
Syt17 T C 7: 118,007,292 (GRCm39) K334R probably benign Het
Sytl5 A T X: 9,826,335 (GRCm39) H436L probably benign Het
Tasor2 A T 13: 3,627,000 (GRCm39) S983R probably damaging Het
Thada A G 17: 84,753,972 (GRCm39) L333P probably damaging Het
Thap12 T C 7: 98,364,314 (GRCm39) Y161H probably damaging Het
Thbs2 C T 17: 14,891,715 (GRCm39) V941I probably benign Het
Tktl1 A T X: 73,225,470 (GRCm39) E72V probably damaging Het
Tm4sf5 T A 11: 70,396,338 (GRCm39) probably benign Het
Urb1 T A 16: 90,566,357 (GRCm39) M1477L probably benign Het
Vcp T A 4: 42,982,596 (GRCm39) I699F probably damaging Het
Vmn1r232 T C 17: 21,133,656 (GRCm39) T315A probably benign Het
Vmn2r100 T A 17: 19,741,752 (GRCm39) W155R possibly damaging Het
Vmn2r19 T C 6: 123,292,861 (GRCm39) I301T possibly damaging Het
Wwc2 A G 8: 48,373,701 (GRCm39) V55A possibly damaging Het
Xirp2 A G 2: 67,345,801 (GRCm39) T2681A probably benign Het
Zfp39 C A 11: 58,791,512 (GRCm39) L58F probably damaging Het
Zfp612 T C 8: 110,816,670 (GRCm39) F587L probably damaging Het
Zfp810 T C 9: 22,190,387 (GRCm39) R174G probably benign Het
Zfta A G 19: 7,400,286 (GRCm39) K251E 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
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
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'- AACCAGTTTTGCCAGACGAGGG -3'
(R):5'- TTCAGATGGAAGGACTGTGCCAGG -3'

Sequencing Primer
(F):5'- GGCAGGCATCAGCACTAC -3'
(R):5'- TTTGCCTGTCAGGCCAG -3'
Posted On 2013-06-11