Incidental Mutation 'R4556:A830005F24Rik'
ID 341879
Institutional Source Beutler Lab
Gene Symbol A830005F24Rik
Ensembl Gene ENSMUSG00000053181
Gene Name RIKEN cDNA A830005F24 gene
Synonyms
MMRRC Submission 041597-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4556 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 48667046-48668315 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 48667937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065465] [ENSMUST00000176176] [ENSMUST00000176949] [ENSMUST00000176996] [ENSMUST00000177530]
AlphaFold Q8BRT5
Predicted Effect unknown
Transcript: ENSMUST00000065465
AA Change: F80L
Predicted Effect probably benign
Transcript: ENSMUST00000176176
SMART Domains Protein: ENSMUSP00000134793
Gene: ENSMUSG00000050954

DomainStartEndE-ValueType
KRAB 14 74 9.74e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176949
SMART Domains Protein: ENSMUSP00000135695
Gene: ENSMUSG00000050954

DomainStartEndE-ValueType
KRAB 14 74 9.74e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176996
SMART Domains Protein: ENSMUSP00000135520
Gene: ENSMUSG00000050954

DomainStartEndE-ValueType
KRAB 14 74 9.74e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177474
Predicted Effect probably benign
Transcript: ENSMUST00000177530
SMART Domains Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954

DomainStartEndE-ValueType
KRAB 14 74 9.74e-36 SMART
ZnF_C2H2 257 279 9.08e-4 SMART
ZnF_C2H2 285 308 2.2e-2 SMART
ZnF_C2H2 314 336 9.73e-4 SMART
ZnF_C2H2 342 364 2.86e-1 SMART
ZnF_C2H2 370 392 4.72e-2 SMART
ZnF_C2H2 398 420 4.24e-4 SMART
ZnF_C2H2 426 448 1.13e-4 SMART
ZnF_C2H2 454 476 2.2e-2 SMART
ZnF_C2H2 482 504 2.99e-4 SMART
ZnF_C2H2 510 532 2.57e-3 SMART
ZnF_C2H2 539 561 3.44e-4 SMART
ZnF_C2H2 567 589 3.69e-4 SMART
ZnF_C2H2 595 617 8.02e-5 SMART
ZnF_C2H2 623 645 1.26e-2 SMART
ZnF_C2H2 651 673 4.79e-3 SMART
ZnF_C2H2 679 701 1.3e-4 SMART
ZnF_C2H2 707 729 5.5e-3 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamts17 A T 7: 66,677,641 (GRCm39) E518D probably damaging Het
Cdk5rap2 A G 4: 70,157,549 (GRCm39) S1601P probably damaging Het
Erc2 A C 14: 28,024,861 (GRCm39) D580A probably damaging Het
Fbxo4 A G 15: 3,995,187 (GRCm39) *386R probably null Het
Fbxo42 T A 4: 140,926,321 (GRCm39) H334Q probably damaging Het
Gdf5 A G 2: 155,783,782 (GRCm39) R24G probably benign Het
Lama3 G T 18: 12,612,816 (GRCm39) R1200L possibly damaging Het
Lxn T A 3: 67,365,953 (GRCm39) I182F possibly damaging Het
Mbd5 G A 2: 49,169,406 (GRCm39) G1526R probably damaging Het
Mcub G A 3: 129,709,384 (GRCm39) Q310* probably null Het
Ndufaf7 T C 17: 79,249,516 (GRCm39) S138P probably benign Het
Nktr A G 9: 121,570,189 (GRCm39) T90A probably damaging Het
Nr1h5 G A 3: 102,853,457 (GRCm39) A350V probably benign Het
Or1e29 G A 11: 73,667,307 (GRCm39) T282I possibly damaging Het
Or7e174 T C 9: 20,012,619 (GRCm39) L188P possibly damaging Het
Pros1 A G 16: 62,721,036 (GRCm39) K197R possibly damaging Het
Rmnd5b G T 11: 51,517,732 (GRCm39) probably null Het
Rnf25 A T 1: 74,638,264 (GRCm39) I26N probably damaging Het
Scn4a T C 11: 106,211,272 (GRCm39) I1582V probably benign Het
Sh2d3c A G 2: 32,643,021 (GRCm39) T583A possibly damaging Het
Sh3tc1 T C 5: 35,864,426 (GRCm39) Y587C probably damaging Het
Slc6a11 A G 6: 114,221,773 (GRCm39) S488G probably benign Het
Smim22 T A 16: 4,825,730 (GRCm39) F38L possibly damaging Het
Stab2 T G 10: 86,803,543 (GRCm39) E335D possibly damaging Het
Tas2r102 T C 6: 132,739,878 (GRCm39) F262S probably damaging Het
Thap12 A G 7: 98,365,052 (GRCm39) N407D probably benign Het
Tmem225 T C 9: 40,060,762 (GRCm39) F107S probably damaging Het
Vmn1r229 T A 17: 21,034,953 (GRCm39) V66E possibly damaging Het
Vmn1r27 A G 6: 58,192,804 (GRCm39) S67P possibly damaging Het
Xrcc4 A T 13: 90,140,623 (GRCm39) H195Q probably benign Het
Other mutations in A830005F24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:A830005F24Rik UTSW 13 48,667,848 (GRCm39) unclassified probably benign
R4555:A830005F24Rik UTSW 13 48,667,937 (GRCm39) unclassified probably benign
R4557:A830005F24Rik UTSW 13 48,667,937 (GRCm39) unclassified probably benign
R8310:A830005F24Rik UTSW 13 48,667,727 (GRCm39) missense unknown
R9776:A830005F24Rik UTSW 13 48,667,758 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACGAAGTGAGCAGCGAACTC -3'
(R):5'- TCCTAGGTGAAACAAGAAAGGCTC -3'

Sequencing Primer
(F):5'- GAACTCCCCTGGTGAGAAAC -3'
(R):5'- CTTGTCTTCCTATCAAGATGAAACC -3'
Posted On 2015-09-24