Incidental Mutation 'R4350:Fam98a'
ID 328487
Institutional Source Beutler Lab
Gene Symbol Fam98a
Ensembl Gene ENSMUSG00000002017
Gene Name family with sequence similarity 98, member A
Synonyms 2810405J04Rik
MMRRC Submission 041105-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.642) question?
Stock # R4350 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 75844081-75858941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75848220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 165 (F165L)
Ref Sequence ENSEMBL: ENSMUSP00000108126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112507]
AlphaFold Q3TJZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000112507
AA Change: F165L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108126
Gene: ENSMUSG00000002017
AA Change: F165L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141969
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,498,020 (GRCm39) probably null Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Ap3d1 T C 10: 80,555,119 (GRCm39) D402G probably benign Het
Ccdc88b T C 19: 6,827,640 (GRCm39) E954G probably damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Cst13 A G 2: 148,672,169 (GRCm39) M115V probably benign Het
Ctr9 T A 7: 110,648,525 (GRCm39) Y722N probably damaging Het
Dvl3 T C 16: 20,344,394 (GRCm39) Y257H possibly damaging Het
Dzip1 T C 14: 119,120,938 (GRCm39) D673G probably benign Het
Enah A T 1: 181,749,985 (GRCm39) S266T possibly damaging Het
Epha7 T C 4: 28,950,393 (GRCm39) V732A probably damaging Het
F13b A G 1: 139,444,036 (GRCm39) I457V probably benign Het
Gcn1 G T 5: 115,741,389 (GRCm39) R1476L probably damaging Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Lyn G A 4: 3,789,796 (GRCm39) R443H probably damaging Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Msh6 A G 17: 88,292,012 (GRCm39) S256G probably damaging Het
Ncor1 A G 11: 62,301,644 (GRCm39) probably null Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rchy1 T C 5: 92,105,813 (GRCm39) D45G probably damaging Het
Rftn2 T C 1: 55,233,440 (GRCm39) T372A probably damaging Het
Rlf G A 4: 121,006,293 (GRCm39) P896S probably benign Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Rpl7a-ps3 T C 15: 36,308,283 (GRCm39) noncoding transcript Het
Sox7 A G 14: 64,185,995 (GRCm39) T344A probably benign Het
Sppl2b T C 10: 80,698,560 (GRCm39) Y127H probably benign Het
Srsf12 T C 4: 33,223,612 (GRCm39) V37A possibly damaging Het
Sst A G 16: 23,708,565 (GRCm39) S89P probably damaging Het
Svil T A 18: 5,118,154 (GRCm39) C1705S probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp3 T C 8: 12,691,117 (GRCm39) T474A probably benign Het
Tubgcp6 G A 15: 88,988,198 (GRCm39) P925L 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
R1121:Fam98a UTSW 17 75,845,529 (GRCm39) missense unknown
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
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'- TTCTGTCCAGTCAGTAGGGG -3'
(R):5'- GTTGTGACTCCAGACTTATGGC -3'

Sequencing Primer
(F):5'- CTGTCCAGTCAGTAGGGGGAAAC -3'
(R):5'- GTGACTCCAGACTTATGGCTATTAAC -3'
Posted On 2015-07-07