Incidental Mutation 'R2218:Abitram'
ID 241250
Institutional Source Beutler Lab
Gene Symbol Abitram
Ensembl Gene ENSMUSG00000038827
Gene Name actin binding transcription modulator
Synonyms BC026590, simiate, Fam206a
MMRRC Submission 040220-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2218 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 56802345-56809601 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56802693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 26 (V26L)
Ref Sequence ENSEMBL: ENSMUSP00000114249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030140] [ENSMUST00000045368] [ENSMUST00000131520] [ENSMUST00000147763]
AlphaFold Q80ZQ9
Predicted Effect probably benign
Transcript: ENSMUST00000030140
SMART Domains Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431

DomainStartEndE-ValueType
Pfam:IKI3 1 955 N/A PFAM
low complexity region 1186 1205 N/A INTRINSIC
low complexity region 1210 1225 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045368
AA Change: V28L

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000047275
Gene: ENSMUSG00000038827
AA Change: V28L

DomainStartEndE-ValueType
Pfam:GCV_H 117 185 5e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131520
AA Change: V28L

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000147763
AA Change: V26L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152638
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,988,319 (GRCm39) probably null Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atp13a5 A T 16: 29,140,464 (GRCm39) V319D probably damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Brinp1 A G 4: 68,680,952 (GRCm39) L526P probably damaging Het
Cacna1d C T 14: 29,845,048 (GRCm39) D679N probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Drd2 T C 9: 49,311,094 (GRCm39) V115A probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
F13b G T 1: 139,434,582 (GRCm39) S116I probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gcn1 C A 5: 115,757,720 (GRCm39) S2475Y probably benign Het
Gls2 T C 10: 128,040,583 (GRCm39) L328P probably damaging Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Htr3a T C 9: 48,819,911 (GRCm39) Y73C probably damaging Het
Iapp G A 6: 142,249,096 (GRCm39) A50T probably benign Het
Il10ra T C 9: 45,176,914 (GRCm39) D137G probably benign Het
Krt35 T C 11: 99,986,988 (GRCm39) S9G probably null Het
Lamc2 T A 1: 153,006,525 (GRCm39) R875S probably benign Het
Mcoln1 C A 8: 3,555,813 (GRCm39) T36K possibly damaging Het
Muc6 T C 7: 141,233,227 (GRCm39) H885R probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or10al4 A T 17: 38,037,145 (GRCm39) I77F probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Rag1 T C 2: 101,474,491 (GRCm39) H217R probably benign Het
Ramp2 A G 11: 101,138,457 (GRCm39) E86G probably benign Het
Rcbtb2 T C 14: 73,416,005 (GRCm39) probably null Het
Sema5a A T 15: 32,631,455 (GRCm39) I613F probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Slc39a11 C A 11: 113,450,376 (GRCm39) probably null Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tkt G T 14: 30,289,018 (GRCm39) probably null Het
Tle1 A T 4: 72,117,556 (GRCm39) F35I possibly damaging Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Ttll13 A G 7: 79,902,250 (GRCm39) K109R probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp608 T C 18: 55,120,756 (GRCm39) N277S probably benign Het
Other mutations in Abitram
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02633:Abitram APN 4 56,806,131 (GRCm39) missense possibly damaging 0.47
R2025:Abitram UTSW 4 56,805,916 (GRCm39) missense probably damaging 1.00
R7426:Abitram UTSW 4 56,804,230 (GRCm39) missense probably null 0.02
R7655:Abitram UTSW 4 56,804,218 (GRCm39) missense probably benign 0.02
R7656:Abitram UTSW 4 56,804,218 (GRCm39) missense probably benign 0.02
R9276:Abitram UTSW 4 56,806,141 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGCTCTTTGACACCCGGTTG -3'
(R):5'- AAGGAAAGCGCCTATTTTAGCTC -3'

Sequencing Primer
(F):5'- TTTGGCCCAGGATCACAGGTG -3'
(R):5'- AGCTCTTCATCAGCGCAAATCTG -3'
Posted On 2014-10-15