Incidental Mutation 'K3955:Atmin'
ID 67236
Institutional Source Beutler Lab
Gene Symbol Atmin
Ensembl Gene ENSMUSG00000047388
Gene Name ATM interactor
Synonyms gpg6, Asciz
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # K3955 (G3) of strain 706
Quality Score 194
Status Validated
Chromosome 8
Chromosomal Location 117670132-117687184 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 117683775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 478 (C478*)
Ref Sequence ENSEMBL: ENSMUSP00000104727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109099]
AlphaFold Q6P9S1
Predicted Effect probably null
Transcript: ENSMUST00000109099
AA Change: C478*
SMART Domains Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388
AA Change: C478*

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
low complexity region 46 62 N/A INTRINSIC
ZnF_C2H2 80 105 2.49e-1 SMART
ZnF_C2H2 127 156 7.11e0 SMART
ZnF_C2H2 161 181 4.5e1 SMART
ZnF_C2H2 187 210 1.06e2 SMART
low complexity region 289 304 N/A INTRINSIC
low complexity region 644 657 N/A INTRINSIC
low complexity region 722 738 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 100% (42/42)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit fetal lethality, craniofacial defects, midbrain exencephaly, and premature senescence of mouse embryonic fibroblasts. Homozygotes for an ENU-induced mutation exhibit left-right patterning defects. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 G A 1: 89,815,326 (GRCm39) R738H probably damaging Het
Arhgap28 T C 17: 68,311,001 (GRCm39) E2G probably damaging Het
Atad2b C A 12: 5,004,536 (GRCm39) probably benign Het
Calr T C 8: 85,572,902 (GRCm39) Y57C probably damaging Het
Cdh13 G A 8: 119,401,843 (GRCm39) V82M probably damaging Het
Ces3a A T 8: 105,777,259 (GRCm39) probably benign Het
Dmbt1 T C 7: 130,721,293 (GRCm39) Y1854H probably damaging Het
Dnah1 T A 14: 30,988,416 (GRCm39) M3429L probably benign Het
Dscam A G 16: 96,474,887 (GRCm39) F1225S probably benign Het
E030025P04Rik G A 11: 109,034,778 (GRCm39) P37S unknown Het
Eral1 A T 11: 77,966,847 (GRCm39) D189E probably damaging Het
Fbxw14 G T 9: 109,105,313 (GRCm39) P284Q possibly damaging Het
Fcrl6 A G 1: 172,425,251 (GRCm39) V260A probably benign Het
Fezf2 A T 14: 12,345,097 (GRCm38) F30Y probably damaging Het
Gjb4 A T 4: 127,245,293 (GRCm39) V216D probably benign Het
Gm9758 G A 5: 14,963,522 (GRCm39) probably benign Het
Gm9758 C G 5: 14,963,553 (GRCm39) V92L probably benign Het
Gmps A C 3: 63,908,954 (GRCm39) R485S probably damaging Het
Gtdc1 C T 2: 44,642,233 (GRCm39) probably null Het
H2-Ob C T 17: 34,460,158 (GRCm39) R19C probably damaging Het
Lars2 T C 9: 123,206,842 (GRCm39) V103A probably damaging Het
Mtrex A C 13: 113,047,513 (GRCm39) Y277* probably null Het
Ndnf G A 6: 65,678,413 (GRCm39) probably benign Het
Nectin1 A G 9: 43,703,375 (GRCm39) Y211C probably damaging Het
Notch4 C T 17: 34,787,436 (GRCm39) T332I probably damaging Het
Or13c25 A G 4: 52,911,081 (GRCm39) F238L probably damaging Het
Or8g28 A C 9: 39,169,926 (GRCm39) L14W probably damaging Het
Or8g53 A G 9: 39,683,469 (GRCm39) I209T probably benign Het
Paf1 T C 7: 28,096,350 (GRCm39) probably null Het
Pcdhb1 G T 18: 37,399,026 (GRCm39) G326C probably damaging Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Pramel25 T C 4: 143,521,710 (GRCm39) I442T possibly damaging Het
Prkcq T C 2: 11,251,604 (GRCm39) probably benign Het
Proser3 G T 7: 30,242,924 (GRCm39) P218T probably damaging Het
Rccd1 G A 7: 79,970,419 (GRCm39) S66F probably benign Het
Recql G T 6: 142,323,932 (GRCm39) S54* probably null Het
Samd15 G T 12: 87,247,534 (GRCm39) G73V probably benign Het
Siglec1 T C 2: 130,923,359 (GRCm39) N462S probably benign Het
Syne2 G T 12: 75,977,439 (GRCm39) A1296S probably damaging Het
Tlk1 T C 2: 70,552,045 (GRCm39) E542G possibly damaging Het
Tnks1bp1 C T 2: 84,892,755 (GRCm39) T232I probably benign Het
Tnrc6c T A 11: 117,651,564 (GRCm39) Y1696N probably damaging Het
Uggt1 A G 1: 36,201,434 (GRCm39) I1102T probably benign Het
Vmn1r84 C T 7: 12,095,884 (GRCm39) V270M probably damaging Het
Wasf1 C T 10: 40,812,191 (GRCm39) P327S unknown Het
Other mutations in Atmin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Atmin APN 8 117,683,396 (GRCm39) missense probably damaging 1.00
IGL02680:Atmin APN 8 117,684,236 (GRCm39) missense probably damaging 1.00
IGL03355:Atmin APN 8 117,684,164 (GRCm39) nonsense probably null
P0038:Atmin UTSW 8 117,683,775 (GRCm39) nonsense probably null
R1440:Atmin UTSW 8 117,684,115 (GRCm39) missense probably damaging 0.98
R1498:Atmin UTSW 8 117,681,540 (GRCm39) missense probably benign 0.21
R1515:Atmin UTSW 8 117,681,579 (GRCm39) missense possibly damaging 0.87
R2094:Atmin UTSW 8 117,684,277 (GRCm39) missense probably damaging 1.00
R2306:Atmin UTSW 8 117,684,389 (GRCm39) missense probably benign 0.04
R2363:Atmin UTSW 8 117,681,653 (GRCm39) critical splice donor site probably null
R2866:Atmin UTSW 8 117,683,112 (GRCm39) missense probably benign
R3743:Atmin UTSW 8 117,683,312 (GRCm39) missense probably benign 0.02
R3901:Atmin UTSW 8 117,683,036 (GRCm39) missense probably benign 0.00
R3902:Atmin UTSW 8 117,683,036 (GRCm39) missense probably benign 0.00
R4664:Atmin UTSW 8 117,684,698 (GRCm39) missense probably damaging 1.00
R4665:Atmin UTSW 8 117,684,698 (GRCm39) missense probably damaging 1.00
R4666:Atmin UTSW 8 117,684,698 (GRCm39) missense probably damaging 1.00
R5441:Atmin UTSW 8 117,684,696 (GRCm39) missense probably damaging 0.99
R5496:Atmin UTSW 8 117,683,911 (GRCm39) missense probably benign 0.01
R6914:Atmin UTSW 8 117,683,452 (GRCm39) missense probably benign 0.02
R6942:Atmin UTSW 8 117,683,452 (GRCm39) missense probably benign 0.02
R6965:Atmin UTSW 8 117,683,777 (GRCm39) missense probably damaging 1.00
R7172:Atmin UTSW 8 117,683,281 (GRCm39) missense probably damaging 1.00
R7492:Atmin UTSW 8 117,683,657 (GRCm39) missense probably damaging 1.00
R7647:Atmin UTSW 8 117,684,661 (GRCm39) missense possibly damaging 0.86
R8068:Atmin UTSW 8 117,683,389 (GRCm39) missense probably benign 0.00
R8726:Atmin UTSW 8 117,681,525 (GRCm39) missense possibly damaging 0.63
R8734:Atmin UTSW 8 117,681,525 (GRCm39) missense possibly damaging 0.63
R8991:Atmin UTSW 8 117,679,665 (GRCm39) missense probably damaging 1.00
R9284:Atmin UTSW 8 117,684,019 (GRCm39) missense probably benign 0.32
R9429:Atmin UTSW 8 117,670,307 (GRCm39) missense probably benign 0.02
R9478:Atmin UTSW 8 117,681,537 (GRCm39) missense probably damaging 0.99
R9535:Atmin UTSW 8 117,683,327 (GRCm39) missense probably damaging 0.96
R9720:Atmin UTSW 8 117,681,653 (GRCm39) critical splice donor site probably null
V7732:Atmin UTSW 8 117,683,218 (GRCm39) missense probably damaging 1.00
X0020:Atmin UTSW 8 117,679,721 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACCAGCATTTCCTCAAGCAACG -3'
(R):5'- CCTGTCTCTGCAACTAAGCTGCTAC -3'

Sequencing Primer
(F):5'- TTTCCTCAAGCAACGTGCAG -3'
(R):5'- GCAACTAAGCTGCTACTCATGATG -3'
Posted On 2013-09-03