Incidental Mutation 'IGL01981:Fam193a'
ID 183467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam193a
Ensembl Gene ENSMUSG00000037210
Gene Name family with sequence homology 193, member A
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL01981
Quality Score
Status
Chromosome 5
Chromosomal Location 34527277-34643800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34588537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 76 (E76G)
Ref Sequence ENSEMBL: ENSMUSP00000092463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094867] [ENSMUST00000180376] [ENSMUST00000202503]
AlphaFold Q8CGI1
Predicted Effect probably damaging
Transcript: ENSMUST00000094867
AA Change: E76G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: E76G

DomainStartEndE-ValueType
coiled coil region 113 141 N/A INTRINSIC
low complexity region 258 270 N/A INTRINSIC
low complexity region 347 368 N/A INTRINSIC
low complexity region 584 593 N/A INTRINSIC
low complexity region 608 643 N/A INTRINSIC
low complexity region 676 691 N/A INTRINSIC
low complexity region 763 785 N/A INTRINSIC
low complexity region 819 832 N/A INTRINSIC
coiled coil region 879 946 N/A INTRINSIC
low complexity region 980 993 N/A INTRINSIC
low complexity region 1052 1063 N/A INTRINSIC
low complexity region 1155 1166 N/A INTRINSIC
Pfam:FAM193_C 1174 1230 3.5e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180376
AA Change: E362G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: E362G

DomainStartEndE-ValueType
SCOP:d1gvp__ 70 93 4e-3 SMART
coiled coil region 399 427 N/A INTRINSIC
low complexity region 544 556 N/A INTRINSIC
low complexity region 633 654 N/A INTRINSIC
low complexity region 870 879 N/A INTRINSIC
low complexity region 894 929 N/A INTRINSIC
low complexity region 962 977 N/A INTRINSIC
low complexity region 1049 1071 N/A INTRINSIC
low complexity region 1105 1118 N/A INTRINSIC
coiled coil region 1165 1232 N/A INTRINSIC
low complexity region 1266 1279 N/A INTRINSIC
low complexity region 1338 1349 N/A INTRINSIC
low complexity region 1441 1452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202503
SMART Domains Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210

DomainStartEndE-ValueType
coiled coil region 29 57 N/A INTRINSIC
low complexity region 178 189 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Fam193a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Fam193a APN 5 34,568,001 (GRCm39) missense possibly damaging 0.72
IGL02139:Fam193a APN 5 34,602,081 (GRCm39) missense probably benign 0.12
IGL02218:Fam193a APN 5 34,600,932 (GRCm39) missense possibly damaging 0.68
BB010:Fam193a UTSW 5 34,623,539 (GRCm39) missense possibly damaging 0.53
BB020:Fam193a UTSW 5 34,623,539 (GRCm39) missense possibly damaging 0.53
P0017:Fam193a UTSW 5 34,597,807 (GRCm39) missense probably damaging 1.00
PIT4418001:Fam193a UTSW 5 34,597,879 (GRCm39) missense probably damaging 0.97
R0172:Fam193a UTSW 5 34,622,957 (GRCm39) missense probably damaging 0.97
R0413:Fam193a UTSW 5 34,623,552 (GRCm39) missense possibly damaging 0.83
R0512:Fam193a UTSW 5 34,583,735 (GRCm39) missense probably damaging 1.00
R0735:Fam193a UTSW 5 34,596,722 (GRCm39) missense possibly damaging 0.85
R0764:Fam193a UTSW 5 34,600,685 (GRCm39) missense probably damaging 0.99
R0904:Fam193a UTSW 5 34,619,487 (GRCm39) missense probably damaging 1.00
R1756:Fam193a UTSW 5 34,623,636 (GRCm39) missense possibly damaging 0.91
R1765:Fam193a UTSW 5 34,593,841 (GRCm39) missense probably damaging 0.99
R1766:Fam193a UTSW 5 34,619,475 (GRCm39) missense probably damaging 0.99
R1845:Fam193a UTSW 5 34,600,716 (GRCm39) missense possibly damaging 0.91
R2051:Fam193a UTSW 5 34,619,494 (GRCm39) missense probably benign 0.19
R2483:Fam193a UTSW 5 34,623,102 (GRCm39) missense possibly damaging 0.96
R3014:Fam193a UTSW 5 34,623,016 (GRCm39) missense probably benign 0.33
R4523:Fam193a UTSW 5 34,600,715 (GRCm39) missense probably benign 0.07
R4723:Fam193a UTSW 5 34,578,130 (GRCm39) missense probably benign 0.04
R4823:Fam193a UTSW 5 34,616,372 (GRCm39) missense probably damaging 1.00
R4826:Fam193a UTSW 5 34,593,875 (GRCm39) missense probably damaging 1.00
R4863:Fam193a UTSW 5 34,623,549 (GRCm39) missense possibly damaging 0.86
R5331:Fam193a UTSW 5 34,622,915 (GRCm39) splice site probably null
R5364:Fam193a UTSW 5 34,623,597 (GRCm39) missense probably benign 0.01
R5564:Fam193a UTSW 5 34,578,199 (GRCm39) missense probably damaging 0.98
R5580:Fam193a UTSW 5 34,578,132 (GRCm39) missense probably benign 0.33
R5784:Fam193a UTSW 5 34,623,567 (GRCm39) missense probably damaging 0.99
R5933:Fam193a UTSW 5 34,623,024 (GRCm39) missense probably damaging 0.98
R5949:Fam193a UTSW 5 34,597,816 (GRCm39) missense possibly damaging 0.82
R6106:Fam193a UTSW 5 34,616,374 (GRCm39) missense possibly damaging 0.67
R6181:Fam193a UTSW 5 34,600,884 (GRCm39) splice site probably null
R7095:Fam193a UTSW 5 34,615,378 (GRCm39) missense probably damaging 0.99
R7109:Fam193a UTSW 5 34,623,165 (GRCm39) missense possibly damaging 0.86
R7344:Fam193a UTSW 5 34,643,074 (GRCm39) missense possibly damaging 0.71
R7401:Fam193a UTSW 5 34,622,979 (GRCm39) missense possibly damaging 0.72
R7453:Fam193a UTSW 5 34,621,460 (GRCm39) missense possibly damaging 0.72
R7456:Fam193a UTSW 5 34,578,132 (GRCm39) missense possibly damaging 0.86
R7648:Fam193a UTSW 5 34,588,526 (GRCm39) missense probably damaging 0.99
R7768:Fam193a UTSW 5 34,623,135 (GRCm39) missense possibly damaging 0.85
R7783:Fam193a UTSW 5 34,588,524 (GRCm39) missense probably damaging 0.99
R7818:Fam193a UTSW 5 34,622,997 (GRCm39) missense possibly damaging 0.72
R7852:Fam193a UTSW 5 34,568,161 (GRCm39) missense probably benign 0.01
R7853:Fam193a UTSW 5 34,597,473 (GRCm39) missense probably benign 0.12
R7894:Fam193a UTSW 5 34,597,877 (GRCm39) missense possibly damaging 0.92
R7933:Fam193a UTSW 5 34,623,539 (GRCm39) missense possibly damaging 0.53
R7957:Fam193a UTSW 5 34,619,430 (GRCm39) missense probably damaging 1.00
R8191:Fam193a UTSW 5 34,597,917 (GRCm39) missense probably damaging 0.96
R8281:Fam193a UTSW 5 34,600,780 (GRCm39) missense unknown
R8554:Fam193a UTSW 5 34,633,115 (GRCm39) missense probably benign 0.05
R8743:Fam193a UTSW 5 34,577,501 (GRCm39) critical splice donor site probably null
R8821:Fam193a UTSW 5 34,616,374 (GRCm39) missense probably benign 0.01
R8831:Fam193a UTSW 5 34,616,374 (GRCm39) missense probably benign 0.01
R8896:Fam193a UTSW 5 34,583,828 (GRCm39) missense probably benign 0.03
R8943:Fam193a UTSW 5 34,597,796 (GRCm39) missense probably benign 0.01
R9026:Fam193a UTSW 5 34,616,536 (GRCm39) missense possibly damaging 0.91
R9182:Fam193a UTSW 5 34,623,361 (GRCm39) missense possibly damaging 0.72
R9210:Fam193a UTSW 5 34,597,481 (GRCm39) missense probably benign 0.01
R9212:Fam193a UTSW 5 34,597,481 (GRCm39) missense probably benign 0.01
R9291:Fam193a UTSW 5 34,593,835 (GRCm39) missense probably damaging 1.00
R9515:Fam193a UTSW 5 34,615,371 (GRCm39) missense possibly damaging 0.86
Z1088:Fam193a UTSW 5 34,578,239 (GRCm39) missense probably benign
Posted On 2014-05-07