Incidental Mutation 'R1121:Fam98a'
ID 95688
Institutional Source Beutler Lab
Gene Symbol Fam98a
Ensembl Gene ENSMUSG00000002017
Gene Name family with sequence similarity 98, member A
Synonyms 2810405J04Rik
MMRRC Submission 039194-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.642) question?
Stock # R1121 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 75844081-75858941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75845529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 406 (G406C)
Ref Sequence ENSEMBL: ENSMUSP00000108126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112507]
AlphaFold Q3TJZ6
Predicted Effect unknown
Transcript: ENSMUST00000112507
AA Change: G406C
SMART Domains Protein: ENSMUSP00000108126
Gene: ENSMUSG00000002017
AA Change: G406C

DomainStartEndE-ValueType
Pfam:DUF2465 11 328 1.1e-137 PFAM
low complexity region 334 396 N/A INTRINSIC
low complexity region 401 441 N/A INTRINSIC
low complexity region 448 481 N/A INTRINSIC
low complexity region 485 501 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140729
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 A T 6: 90,566,366 (GRCm39) I646L probably benign Het
Ankar G A 1: 72,690,822 (GRCm39) probably null Het
Ap3b2 T A 7: 81,113,943 (GRCm39) T815S unknown Het
Atosb T C 4: 43,034,947 (GRCm39) K317E probably damaging Het
Cops7a T C 6: 124,939,379 (GRCm39) D90G probably benign Het
Dpysl2 C T 14: 67,100,001 (GRCm39) M78I probably benign Het
Erc2 T C 14: 28,197,612 (GRCm39) probably benign Het
Fam120a A T 13: 49,063,913 (GRCm39) probably null Het
G6pc3 G A 11: 102,080,768 (GRCm39) S6N possibly damaging Het
Grin2d T G 7: 45,503,771 (GRCm39) M655L probably damaging Het
Hnrnpul1 G T 7: 25,440,332 (GRCm39) T308K possibly damaging Het
Ipp T A 4: 116,377,872 (GRCm39) N247K probably benign Het
Islr T C 9: 58,065,045 (GRCm39) N154S probably benign Het
Itk A G 11: 46,222,721 (GRCm39) Y577H possibly damaging Het
Micu1 C T 10: 59,624,804 (GRCm39) T282I possibly damaging Het
Or6d14 T G 6: 116,534,190 (GRCm39) V268G probably damaging Het
Pcdhb14 T A 18: 37,582,645 (GRCm39) Y584N probably damaging Het
Pnlip A G 19: 58,669,340 (GRCm39) probably null Het
Ppip5k2 A T 1: 97,684,585 (GRCm39) Y129N probably damaging Het
Prtg T G 9: 72,813,449 (GRCm39) H936Q probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Spef1l T A 7: 139,556,543 (GRCm39) D148V probably benign Het
Sptbn5 T A 2: 119,899,871 (GRCm39) probably null Het
Thnsl1 A G 2: 21,216,975 (GRCm39) D243G probably benign Het
Ugt2a3 A T 5: 87,475,548 (GRCm39) D361E probably damaging Het
Uhrf1 T A 17: 56,619,917 (GRCm39) M276K probably benign Het
Vmn1r26 T C 6: 57,985,647 (GRCm39) T181A probably benign Het
Vwa7 T A 17: 35,236,770 (GRCm39) N112K probably damaging Het
Xkr7 C T 2: 152,896,343 (GRCm39) T399I probably damaging Het
Zpld2 T C 4: 133,930,248 (GRCm39) D19G probably benign Het
Other mutations in Fam98a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Fam98a APN 17 75,858,742 (GRCm39) missense probably damaging 1.00
IGL00548:Fam98a APN 17 75,845,813 (GRCm39) missense probably damaging 1.00
IGL02170:Fam98a APN 17 75,847,187 (GRCm39) critical splice acceptor site probably null
IGL02399:Fam98a APN 17 75,845,936 (GRCm39) splice site probably benign
IGL03062:Fam98a APN 17 75,847,100 (GRCm39) splice site probably benign
IGL03246:Fam98a APN 17 75,845,848 (GRCm39) missense probably damaging 0.99
R0584:Fam98a UTSW 17 75,851,772 (GRCm39) missense probably damaging 1.00
R0594:Fam98a UTSW 17 75,845,482 (GRCm39) nonsense probably null
R1366:Fam98a UTSW 17 75,846,381 (GRCm39) splice site probably benign
R1387:Fam98a UTSW 17 75,845,264 (GRCm39) missense unknown
R1424:Fam98a UTSW 17 75,847,173 (GRCm39) missense probably damaging 1.00
R1533:Fam98a UTSW 17 75,848,276 (GRCm39) missense probably damaging 1.00
R1651:Fam98a UTSW 17 75,854,710 (GRCm39) missense probably benign 0.16
R2211:Fam98a UTSW 17 75,845,940 (GRCm39) critical splice donor site probably null
R4295:Fam98a UTSW 17 75,848,342 (GRCm39) missense probably damaging 1.00
R4350:Fam98a UTSW 17 75,848,220 (GRCm39) missense probably damaging 1.00
R4963:Fam98a UTSW 17 75,845,977 (GRCm39) missense probably damaging 0.99
R5320:Fam98a UTSW 17 75,845,810 (GRCm39) missense probably damaging 1.00
R5383:Fam98a UTSW 17 75,845,576 (GRCm39) missense unknown
R6031:Fam98a UTSW 17 75,846,427 (GRCm39) missense probably damaging 0.98
R6031:Fam98a UTSW 17 75,846,427 (GRCm39) missense probably damaging 0.98
R7058:Fam98a UTSW 17 75,845,384 (GRCm39) missense unknown
R7182:Fam98a UTSW 17 75,846,013 (GRCm39) nonsense probably null
R7505:Fam98a UTSW 17 75,845,233 (GRCm39) missense unknown
R7554:Fam98a UTSW 17 75,854,670 (GRCm39) nonsense probably null
R7566:Fam98a UTSW 17 75,854,657 (GRCm39) missense probably damaging 1.00
R8095:Fam98a UTSW 17 75,845,766 (GRCm39) missense probably damaging 1.00
R8467:Fam98a UTSW 17 75,851,830 (GRCm39) missense probably damaging 1.00
R8790:Fam98a UTSW 17 75,854,684 (GRCm39) missense possibly damaging 0.93
R8827:Fam98a UTSW 17 75,851,824 (GRCm39) missense possibly damaging 0.74
R9375:Fam98a UTSW 17 75,848,330 (GRCm39) missense possibly damaging 0.55
R9625:Fam98a UTSW 17 75,845,474 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGTGCTGTTCAAACTGGCCCC -3'
(R):5'- GGTAAGGTCTCTGTTGCTCACCTTC -3'

Sequencing Primer
(F):5'- cctcttcctccccagcc -3'
(R):5'- GCCTGTGCCATTAATAAGGTGAC -3'
Posted On 2014-01-05