Incidental Mutation 'R8943:Fam193a'
ID 681089
Institutional Source Beutler Lab
Gene Symbol Fam193a
Ensembl Gene ENSMUSG00000037210
Gene Name family with sequence homology 193, member A
Synonyms
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 34527277-34643800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34597796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 531 (D531G)
Ref Sequence ENSEMBL: ENSMUSP00000138082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094867] [ENSMUST00000180376] [ENSMUST00000202503]
AlphaFold Q8CGI1
Predicted Effect probably benign
Transcript: ENSMUST00000094867
AA Change: D245G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: D245G

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: D531G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: D531G

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: ENSMUST00000201005
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
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null 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
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
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'- CACTAATACAAGCAGAGGTTTGAAC -3'
(R):5'- AAAGCACTGCAATGGTGATTG -3'

Sequencing Primer
(F):5'- GTTTGAACCCAACCTTCAGAGTTGG -3'
(R):5'- AGCACTGCAATGGTGATTGTATTTAG -3'
Posted On 2021-08-31