Incidental Mutation 'R0579:Abcf3'
ID 56370
Institutional Source Beutler Lab
Gene Symbol Abcf3
Ensembl Gene ENSMUSG00000003234
Gene Name ATP-binding cassette, sub-family F member 3
Synonyms
MMRRC Submission 038769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R0579 (G1)
Quality Score 173
Status Validated
Chromosome 16
Chromosomal Location 20367327-20380129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20369398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 260 (R260Q)
Ref Sequence ENSEMBL: ENSMUSP00000156048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003319] [ENSMUST00000232680] [ENSMUST00000232490]
AlphaFold Q8K268
Predicted Effect probably benign
Transcript: ENSMUST00000003319
AA Change: R266Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: R266Q

DomainStartEndE-ValueType
low complexity region 120 137 N/A INTRINSIC
AAA 202 401 3.23e-11 SMART
low complexity region 423 435 N/A INTRINSIC
low complexity region 457 469 N/A INTRINSIC
AAA 517 684 4.68e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154660
Predicted Effect probably benign
Transcript: ENSMUST00000231258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231590
Predicted Effect probably benign
Transcript: ENSMUST00000232680
AA Change: R260Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231978
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Abcg3 A G 5: 105,121,969 (GRCm39) V136A probably damaging Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Ambra1 A G 2: 91,654,810 (GRCm39) N783S possibly damaging Het
Cd300ld2 A G 11: 114,903,125 (GRCm39) F240S probably benign Het
Cep83 A G 10: 94,584,915 (GRCm39) D340G possibly damaging Het
Crybg2 T A 4: 133,800,049 (GRCm39) I403N probably damaging Het
Dnah14 T A 1: 181,572,312 (GRCm39) M2881K possibly damaging Het
Erbb4 T C 1: 68,081,621 (GRCm39) M1138V probably benign Het
Evi5 A G 5: 107,969,575 (GRCm39) V112A probably benign Het
F2r A G 13: 95,754,857 (GRCm39) V9A probably benign Het
Flot1 C A 17: 36,141,900 (GRCm39) S337R probably benign Het
Glt28d2 G A 3: 85,779,440 (GRCm39) T11I probably damaging Het
Gm19345 A G 7: 19,588,901 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Hmgcs2 A T 3: 98,198,264 (GRCm39) I56F probably damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Il21 T G 3: 37,281,923 (GRCm39) K74Q possibly damaging Het
Itpripl1 G T 2: 126,983,011 (GRCm39) Y370* probably null Het
Kif24 G A 4: 41,393,706 (GRCm39) P1056S probably damaging Het
L2hgdh A T 12: 69,748,046 (GRCm39) probably benign Het
Lipo2 A T 19: 33,724,298 (GRCm39) L156Q probably damaging Het
Nlrp4c T A 7: 6,063,844 (GRCm39) M84K probably benign Het
Npy4r G A 14: 33,868,640 (GRCm39) T216I probably benign Het
Or12d17 T C 17: 37,777,238 (GRCm39) V47A probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or6c1 A T 10: 129,518,106 (GRCm39) C167* probably null Het
Pafah1b2 T C 9: 45,880,011 (GRCm39) E222G probably benign Het
Pop1 T A 15: 34,510,115 (GRCm39) D406E possibly damaging Het
Proser1 A G 3: 53,374,572 (GRCm39) Y32C probably damaging Het
Ptprj C A 2: 90,266,913 (GRCm39) probably null Het
Slc1a3 T A 15: 8,717,793 (GRCm39) I100F probably damaging Het
Slc25a22 T C 7: 141,011,272 (GRCm39) D176G probably damaging Het
Stard7 T C 2: 127,126,473 (GRCm39) V99A probably damaging Het
Stk33 C T 7: 108,924,904 (GRCm39) V184I probably damaging Het
Timmdc1 A G 16: 38,342,745 (GRCm39) L51P probably benign Het
Tppp T C 13: 74,169,352 (GRCm39) S31P probably benign Het
Upf2 A T 2: 5,993,240 (GRCm39) R599W unknown Het
Vav1 G T 17: 57,586,271 (GRCm39) W25L probably benign Het
Other mutations in Abcf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Abcf3 APN 16 20,370,434 (GRCm39) missense probably damaging 0.98
IGL01570:Abcf3 APN 16 20,378,748 (GRCm39) missense probably damaging 1.00
IGL02239:Abcf3 APN 16 20,369,386 (GRCm39) missense possibly damaging 0.85
R0158:Abcf3 UTSW 16 20,371,316 (GRCm39) missense probably damaging 1.00
R0270:Abcf3 UTSW 16 20,378,918 (GRCm39) splice site probably null
R0671:Abcf3 UTSW 16 20,369,237 (GRCm39) missense probably damaging 1.00
R0799:Abcf3 UTSW 16 20,378,084 (GRCm39) missense probably damaging 1.00
R1384:Abcf3 UTSW 16 20,378,053 (GRCm39) missense probably damaging 1.00
R1393:Abcf3 UTSW 16 20,379,180 (GRCm39) missense probably benign 0.01
R2356:Abcf3 UTSW 16 20,379,249 (GRCm39) missense probably benign 0.01
R2910:Abcf3 UTSW 16 20,378,982 (GRCm39) missense probably damaging 0.98
R2911:Abcf3 UTSW 16 20,378,982 (GRCm39) missense probably damaging 0.98
R3081:Abcf3 UTSW 16 20,378,114 (GRCm39) missense probably benign 0.09
R3852:Abcf3 UTSW 16 20,379,189 (GRCm39) missense probably damaging 1.00
R4707:Abcf3 UTSW 16 20,367,808 (GRCm39) missense possibly damaging 0.91
R4752:Abcf3 UTSW 16 20,369,326 (GRCm39) missense probably damaging 1.00
R4885:Abcf3 UTSW 16 20,370,425 (GRCm39) missense probably benign 0.05
R5672:Abcf3 UTSW 16 20,368,002 (GRCm39) missense probably benign 0.00
R5817:Abcf3 UTSW 16 20,367,833 (GRCm39) missense possibly damaging 0.95
R6013:Abcf3 UTSW 16 20,369,311 (GRCm39) splice site probably null
R6019:Abcf3 UTSW 16 20,371,201 (GRCm39) missense possibly damaging 0.60
R6026:Abcf3 UTSW 16 20,369,320 (GRCm39) missense probably damaging 1.00
R6952:Abcf3 UTSW 16 20,368,484 (GRCm39) splice site probably null
R7327:Abcf3 UTSW 16 20,367,430 (GRCm39) missense probably benign 0.03
R7431:Abcf3 UTSW 16 20,377,539 (GRCm39) missense probably benign 0.00
R7539:Abcf3 UTSW 16 20,371,382 (GRCm39) critical splice donor site probably null
R7764:Abcf3 UTSW 16 20,368,040 (GRCm39) missense probably benign 0.36
R8358:Abcf3 UTSW 16 20,367,796 (GRCm39) missense possibly damaging 0.95
R8391:Abcf3 UTSW 16 20,368,968 (GRCm39) missense possibly damaging 0.89
R8416:Abcf3 UTSW 16 20,369,023 (GRCm39) missense probably benign 0.02
R8821:Abcf3 UTSW 16 20,369,214 (GRCm39) missense probably damaging 1.00
R8831:Abcf3 UTSW 16 20,369,214 (GRCm39) missense probably damaging 1.00
R9005:Abcf3 UTSW 16 20,368,056 (GRCm39) missense probably benign
R9160:Abcf3 UTSW 16 20,379,246 (GRCm39) missense possibly damaging 0.93
R9501:Abcf3 UTSW 16 20,379,125 (GRCm39) missense probably damaging 1.00
X0066:Abcf3 UTSW 16 20,378,447 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CTGGGGAAGACGACATTGCTAAAGAT -3'
(R):5'- TTCTGCGGCTCACGAGGGA -3'

Sequencing Primer
(F):5'- TGCTAAAGATGCTGGCTACC -3'
(R):5'- gcctgctcgcttactgaac -3'
Posted On 2013-07-11