Incidental Mutation 'R6106:Fam193a'
ID 485503
Institutional Source Beutler Lab
Gene Symbol Fam193a
Ensembl Gene ENSMUSG00000037210
Gene Name family with sequence homology 193, member A
Synonyms
MMRRC Submission 044256-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6106 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 34527277-34643800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34616374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 564 (T564S)
Ref Sequence ENSEMBL: ENSMUSP00000092463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094867] [ENSMUST00000180376]
AlphaFold Q8CGI1
Predicted Effect possibly damaging
Transcript: ENSMUST00000094867
AA Change: T564S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: T564S

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 benign
Transcript: ENSMUST00000180376
AA Change: T850S

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: T850S

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 unknown
Transcript: ENSMUST00000201005
AA Change: K107N
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,879,838 (GRCm39) E726G probably damaging Het
Adgrl4 A G 3: 151,246,622 (GRCm39) I641V possibly damaging Het
Apoa5 A T 9: 46,181,931 (GRCm39) R336* probably null Het
Bfsp2 T A 9: 103,357,023 (GRCm39) T135S probably benign Het
Calhm2 A T 19: 47,121,501 (GRCm39) Y223N probably damaging Het
Ccdc158 T C 5: 92,775,325 (GRCm39) E960G probably benign Het
Ccdc80 T C 16: 44,917,073 (GRCm39) S610P probably benign Het
Cdon T A 9: 35,366,704 (GRCm39) Y193* probably null Het
Cept1 A T 3: 106,410,992 (GRCm39) H400Q probably benign Het
Cfap144 T C 11: 58,687,427 (GRCm39) E66G probably damaging Het
Clspn T A 4: 126,484,434 (GRCm39) N1197K probably benign Het
Cnot8 T C 11: 58,004,816 (GRCm39) S172P probably damaging Het
Col14a1 T C 15: 55,383,404 (GRCm39) I1794T probably damaging Het
Cracdl T C 1: 37,652,493 (GRCm39) T1105A possibly damaging Het
Galnt1 G A 18: 24,387,720 (GRCm39) V154I probably benign Het
Gstcd C A 3: 132,704,675 (GRCm39) E526D probably benign Het
Ighv1-42 A C 12: 114,900,907 (GRCm39) S59R probably benign Het
Morn3 A G 5: 123,184,823 (GRCm39) C6R possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or2aj4 A G 16: 19,385,009 (GRCm39) L208P probably damaging Het
Or51ai2 A G 7: 103,587,400 (GRCm39) H271R probably benign Het
Or8b36 T A 9: 37,937,762 (GRCm39) I220N probably damaging Het
Or8b49 T C 9: 38,506,252 (GRCm39) M245T probably benign Het
Pcdhb11 A G 18: 37,556,056 (GRCm39) N462S probably damaging Het
Pfpl G T 19: 12,406,825 (GRCm39) D359Y probably damaging Het
Phyhip T C 14: 70,699,299 (GRCm39) V34A probably benign Het
Pigu A T 2: 155,139,116 (GRCm39) I313N possibly damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Psg16 T A 7: 16,829,091 (GRCm39) F225Y possibly damaging Het
Setdb2 T A 14: 59,660,898 (GRCm39) K82* probably null Het
Sgms1 A G 19: 32,101,825 (GRCm39) S394P possibly damaging Het
Slc16a1 T C 3: 104,560,310 (GRCm39) L205P probably benign Het
Slc19a1 T A 10: 76,880,603 (GRCm39) I380N probably damaging Het
Snx32 A G 19: 5,548,042 (GRCm39) I131T probably benign Het
Sorbs3 T C 14: 70,430,053 (GRCm39) probably null Het
Stc2 T A 11: 31,310,392 (GRCm39) I215L probably benign Het
Tln2 C T 9: 67,230,302 (GRCm39) A84T probably damaging Het
Tomm34 A G 2: 163,902,911 (GRCm39) M133T probably benign Het
Usp43 A G 11: 67,770,733 (GRCm39) S634P probably benign Het
Vmn2r59 T A 7: 41,661,749 (GRCm39) R689* probably null Het
Vmn2r9 C T 5: 108,992,902 (GRCm39) R536Q probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zfhx2 T A 14: 55,305,767 (GRCm39) probably null Het
Zfp1004 A G 2: 150,034,725 (GRCm39) K349E probably damaging Het
Zfp608 G T 18: 55,120,944 (GRCm39) H214Q possibly damaging Het
Zfp619 T C 7: 39,184,558 (GRCm39) V196A probably benign Het
Other mutations in Fam193a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01981:Fam193a APN 5 34,588,537 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CTGATATTCCTGTTCTATGCTTGAAGG -3'
(R):5'- ACTGCTGCTAGACTGCACTG -3'

Sequencing Primer
(F):5'- GTGACCTTAGACAAGTTGCTTAGCC -3'
(R):5'- CTAGACTGCACTGTGGTGGC -3'
Posted On 2017-08-16