Incidental Mutation 'R7380:Fam193b'
ID 572664
Institutional Source Beutler Lab
Gene Symbol Fam193b
Ensembl Gene ENSMUSG00000021495
Gene Name family with sequence similarity 193, member B
Synonyms IRIZIO
MMRRC Submission 045462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R7380 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 55687129-55718920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55690612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 717 (S717A)
Ref Sequence ENSEMBL: ENSMUSP00000021957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021957] [ENSMUST00000225240]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021957
AA Change: S717A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495
AA Change: S717A

DomainStartEndE-ValueType
low complexity region 55 71 N/A INTRINSIC
low complexity region 133 144 N/A INTRINSIC
low complexity region 161 174 N/A INTRINSIC
low complexity region 198 242 N/A INTRINSIC
low complexity region 260 286 N/A INTRINSIC
coiled coil region 371 404 N/A INTRINSIC
low complexity region 566 573 N/A INTRINSIC
low complexity region 622 635 N/A INTRINSIC
low complexity region 641 657 N/A INTRINSIC
Pfam:FAM193_C 722 776 9.6e-32 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000225240
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T C 8: 117,700,376 (GRCm39) T9A probably benign Het
Abcc5 A T 16: 20,215,784 (GRCm39) S414R possibly damaging Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Ankib1 G T 5: 3,772,576 (GRCm39) Q487K probably benign Het
BC034090 T G 1: 155,108,229 (GRCm39) S11R probably damaging Het
Car12 A G 9: 66,654,945 (GRCm39) N125S probably benign Het
Casq1 A G 1: 172,044,416 (GRCm39) V137A probably benign Het
Cfap54 C A 10: 92,883,840 (GRCm39) V305F probably damaging Het
Clstn3 T C 6: 124,433,948 (GRCm39) E404G probably benign Het
Copg1 T G 6: 87,870,824 (GRCm39) L209R probably damaging Het
Cpb2 A T 14: 75,493,449 (GRCm39) Q42L possibly damaging Het
Cpd G A 11: 76,693,151 (GRCm39) Q712* probably null Het
Csmd3 T A 15: 47,450,361 (GRCm39) Y2690F Het
Dchs1 G T 7: 105,407,835 (GRCm39) T1999K probably benign Het
Ddx10 T A 9: 53,151,786 (GRCm39) T80S probably damaging Het
Dmtn G A 14: 70,854,768 (GRCm39) T69I probably damaging Het
Dnah5 T A 15: 28,370,524 (GRCm39) H2821Q probably damaging Het
Fam162b T A 10: 51,466,572 (GRCm39) probably benign Het
Far2 T C 6: 148,082,493 (GRCm39) F500L unknown Het
Focad T A 4: 88,192,435 (GRCm39) V588D unknown Het
Gm12728 T C 4: 105,651,593 (GRCm39) F68L probably damaging Het
Gm1527 T A 3: 28,974,621 (GRCm39) M478K probably benign Het
Gm57858 T A 3: 36,080,070 (GRCm39) D229V possibly damaging Het
Gpd2 A T 2: 57,230,171 (GRCm39) I308F probably damaging Het
Igf2bp3 T C 6: 49,085,933 (GRCm39) T249A probably benign Het
Igfn1 C A 1: 135,889,746 (GRCm39) V2434F probably damaging Het
Inhca G A 9: 103,156,680 (GRCm39) Q127* probably null Het
Kdm5a C A 6: 120,382,879 (GRCm39) Q737K probably benign Het
Khdrbs2 T C 1: 32,372,685 (GRCm39) S120P unknown Het
Lmx1a T C 1: 167,519,609 (GRCm39) F46L probably damaging Het
Lrba C G 3: 86,232,381 (GRCm39) T776R probably damaging Het
Lrrc8c A G 5: 105,755,701 (GRCm39) N492S possibly damaging Het
Mapk3 A T 7: 126,363,967 (GRCm39) I365F Het
Mcee A G 7: 64,061,657 (GRCm39) I153M possibly damaging Het
Mllt3 T C 4: 87,710,180 (GRCm39) D415G possibly damaging Het
Muc4 A T 16: 32,575,740 (GRCm39) T1747S unknown Het
Myh14 A T 7: 44,310,466 (GRCm39) V139E probably damaging Het
Myo10 A T 15: 25,779,706 (GRCm39) I772L probably benign Het
Naa15 T G 3: 51,367,268 (GRCm39) probably null Het
Nbeal1 T A 1: 60,283,969 (GRCm39) I841N probably damaging Het
Nf1 C T 11: 79,437,102 (GRCm39) T2006I probably damaging Het
Npr2 T A 4: 43,641,254 (GRCm39) W427R probably damaging Het
Nr1h3 A T 2: 91,020,540 (GRCm39) F324L possibly damaging Het
Obscn T C 11: 58,947,740 (GRCm39) K4430E Het
Or1e1d-ps1 T A 11: 73,819,013 (GRCm39) Y61N possibly damaging Het
Or5ac21 A G 16: 59,124,391 (GRCm39) R292G probably damaging Het
Or6c2 A T 10: 129,362,530 (GRCm39) T145S probably benign Het
Or6d13 T C 6: 116,517,894 (GRCm39) L160P probably benign Het
Osgin1 T A 8: 120,172,170 (GRCm39) H321Q probably benign Het
P4ha1 A G 10: 59,186,273 (GRCm39) I251V probably benign Het
Padi2 G A 4: 140,644,997 (GRCm39) W77* probably null Het
Pkd1 T A 17: 24,800,616 (GRCm39) I3086N probably damaging Het
Plk3 T C 4: 116,988,350 (GRCm39) N360S probably benign Het
Prr14 A T 7: 127,075,614 (GRCm39) S541C probably null Het
Ptch2 C A 4: 116,971,843 (GRCm39) Q1122K possibly damaging Het
Rab3gap1 T C 1: 127,865,727 (GRCm39) V764A possibly damaging Het
Rad50 T C 11: 53,586,223 (GRCm39) I258V probably benign Het
Rapgef3 G T 15: 97,664,672 (GRCm39) R64S probably benign Het
Rbm44 A G 1: 91,079,938 (GRCm39) N42S possibly damaging Het
Ring1 T C 17: 34,240,694 (GRCm39) Y361C probably damaging Het
Robo3 T C 9: 37,329,852 (GRCm39) T1155A probably damaging Het
Rsf1 GGCGG GGCGGTGGCCGCGG 7: 97,229,122 (GRCm39) probably benign Het
Ryr3 T C 2: 112,470,502 (GRCm39) T4682A probably damaging Het
Scart1 A T 7: 139,804,790 (GRCm39) N598Y possibly damaging Het
Sema7a T C 9: 57,868,847 (GRCm39) V653A unknown Het
Slc16a13 T C 11: 70,110,105 (GRCm39) Y132C probably damaging Het
Slc24a1 A G 9: 64,855,815 (GRCm39) V364A unknown Het
Slc8a2 C T 7: 15,868,278 (GRCm39) A170V probably damaging Het
Slfn8 C T 11: 82,894,566 (GRCm39) R691Q not run Het
Snx2 T C 18: 53,327,640 (GRCm39) V122A probably benign Het
Sstr1 A T 12: 58,260,066 (GRCm39) M230L probably benign Het
Themis2 C T 4: 132,513,528 (GRCm39) V233I possibly damaging Het
Tmem106b T C 6: 13,078,167 (GRCm39) S121P probably damaging Het
Tmem63c A G 12: 87,124,722 (GRCm39) I529V probably benign Het
Tmem94 T C 11: 115,686,971 (GRCm39) probably null Het
Trmt10c A T 16: 55,854,619 (GRCm39) W339R probably damaging Het
Ugt2b1 A T 5: 87,065,578 (GRCm39) F487Y not run Het
Vmn2r91 T A 17: 18,356,838 (GRCm39) L835* probably null Het
Vps52 C A 17: 34,177,283 (GRCm39) N108K possibly damaging Het
Wdpcp T A 11: 21,661,585 (GRCm39) C286S possibly damaging Het
Zfp959 T A 17: 56,205,551 (GRCm39) H529Q possibly damaging Het
Other mutations in Fam193b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Fam193b APN 13 55,691,266 (GRCm39) missense probably damaging 1.00
IGL01761:Fam193b APN 13 55,697,070 (GRCm39) missense probably benign 0.04
IGL01916:Fam193b APN 13 55,698,031 (GRCm39) splice site probably benign
IGL03022:Fam193b APN 13 55,691,475 (GRCm39) missense probably damaging 1.00
G1citation:Fam193b UTSW 13 55,689,504 (GRCm39) unclassified probably benign
R0081:Fam193b UTSW 13 55,702,024 (GRCm39) unclassified probably benign
R1170:Fam193b UTSW 13 55,689,518 (GRCm39) missense probably damaging 1.00
R1497:Fam193b UTSW 13 55,702,247 (GRCm39) missense probably damaging 0.99
R2069:Fam193b UTSW 13 55,690,811 (GRCm39) missense probably damaging 1.00
R2517:Fam193b UTSW 13 55,690,629 (GRCm39) missense probably damaging 1.00
R4301:Fam193b UTSW 13 55,690,417 (GRCm39) nonsense probably null
R4720:Fam193b UTSW 13 55,691,250 (GRCm39) missense probably benign 0.17
R4782:Fam193b UTSW 13 55,691,284 (GRCm39) missense probably damaging 1.00
R4959:Fam193b UTSW 13 55,691,097 (GRCm39) missense probably damaging 1.00
R6652:Fam193b UTSW 13 55,690,603 (GRCm39) missense probably damaging 0.99
R6738:Fam193b UTSW 13 55,698,174 (GRCm39) missense probably benign 0.01
R6822:Fam193b UTSW 13 55,689,504 (GRCm39) unclassified probably benign
R8323:Fam193b UTSW 13 55,702,223 (GRCm39) nonsense probably null
R8547:Fam193b UTSW 13 55,698,117 (GRCm39) missense probably damaging 1.00
X0011:Fam193b UTSW 13 55,690,443 (GRCm39) missense probably damaging 1.00
X0066:Fam193b UTSW 13 55,698,073 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTTGAAGTACTCCACCTCTCGG -3'
(R):5'- CAGGACCAATTCAGGCTGAC -3'

Sequencing Primer
(F):5'- AGTACTCCACCTCTCGGTCTGTC -3'
(R):5'- GCTGACAGCCCCAAAACTG -3'
Posted On 2019-09-13