Incidental Mutation 'R2363:Atmin'
ID 247226
Institutional Source Beutler Lab
Gene Symbol Atmin
Ensembl Gene ENSMUSG00000047388
Gene Name ATM interactor
Synonyms gpg6, Asciz
MMRRC Submission 040344-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2363 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 117670132-117687184 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 117681653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109099]
AlphaFold Q6P9S1
Predicted Effect probably null
Transcript: ENSMUST00000109099
SMART Domains Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388

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 0.9592 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (51/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T C 2: 103,397,528 (GRCm39) C153R probably damaging Het
Adam23 A G 1: 63,596,650 (GRCm39) probably null Het
Adpgk G T 9: 59,222,136 (GRCm39) M354I probably benign Het
C1rl G A 6: 124,486,069 (GRCm39) G480D probably benign Het
C4b G A 17: 34,955,032 (GRCm39) probably benign Het
Cacnb1 G A 11: 97,903,672 (GRCm39) T127I possibly damaging Het
Cmya5 A T 13: 93,230,210 (GRCm39) V1626E probably benign Het
Cndp2 C T 18: 84,686,694 (GRCm39) G443S probably damaging Het
Crb1 A G 1: 139,265,016 (GRCm39) I134T possibly damaging Het
Dnaaf3 T C 7: 4,535,276 (GRCm39) probably null Het
Enam C T 5: 88,651,008 (GRCm39) P764L probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbln1 G A 15: 85,111,341 (GRCm39) probably null Het
Flnb A G 14: 7,945,950 (GRCm38) I2452V possibly damaging Het
Fmo3 A T 1: 162,781,884 (GRCm39) W490R probably damaging Het
Gabrb1 C T 5: 72,026,916 (GRCm39) R106* probably null Het
Galnt4 C T 10: 98,944,923 (GRCm39) T216I probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Golph3 A G 15: 12,349,649 (GRCm39) D223G probably benign Het
Herc4 T A 10: 63,151,473 (GRCm39) F905I possibly damaging Het
Il23r T C 6: 67,429,401 (GRCm39) T314A probably benign Het
Lrrtm4 T C 6: 79,998,857 (GRCm39) W90R probably damaging Het
Maml2 C T 9: 13,532,541 (GRCm39) T585I probably damaging Het
Mpp3 G A 11: 101,911,312 (GRCm39) A170V probably damaging Het
Naip6 T A 13: 100,452,928 (GRCm39) K44N possibly damaging Het
Or10aa3 C T 1: 173,878,814 (GRCm39) R292C probably damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e17 A G 11: 73,831,182 (GRCm39) T37A possibly damaging Het
Or4k51 C T 2: 111,585,139 (GRCm39) P182S probably damaging Het
Or51b6 T A 7: 103,556,267 (GRCm39) M207K probably benign Het
Or6f2 A G 7: 139,756,878 (GRCm39) T282A probably damaging Het
Or7e165 T G 9: 19,694,892 (GRCm39) I154M probably benign Het
Or8c10 T C 9: 38,279,394 (GRCm39) I174T probably damaging Het
Pak1 T A 7: 97,535,521 (GRCm39) V204E probably benign Het
Pcdhb10 T A 18: 37,547,190 (GRCm39) C755* probably null Het
Pcdhb20 A G 18: 37,638,725 (GRCm39) Y417C probably damaging Het
Pkd1l3 G T 8: 110,355,341 (GRCm39) W723L probably benign Het
Plin1 C T 7: 79,376,139 (GRCm39) probably null Het
Polr3a A T 14: 24,525,960 (GRCm39) probably null Het
Ranbp2 A T 10: 58,314,758 (GRCm39) K1826I possibly damaging Het
Rapgef1 A G 2: 29,626,608 (GRCm39) I970V possibly damaging Het
Rdx C A 9: 51,980,173 (GRCm39) F255L probably damaging Het
Rp1l1 A T 14: 64,267,447 (GRCm39) H1011L possibly damaging Het
Serpina6 T C 12: 103,614,868 (GRCm39) D326G probably benign Het
Sh3tc2 A G 18: 62,123,966 (GRCm39) E909G probably benign Het
Shprh T A 10: 11,047,697 (GRCm39) V1015D probably damaging Het
Slfn8 A T 11: 82,894,920 (GRCm39) Y629N probably damaging Het
Triml1 A G 8: 43,594,408 (GRCm39) S8P probably damaging 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
K3955:Atmin UTSW 8 117,683,775 (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
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'- CCGCAGCACTTTATGAAAATGC -3'
(R):5'- CACACTTGTTATCATTAGATCCAGCC -3'

Sequencing Primer
(F):5'- GCAGCACTTTATGAAAATGCATGCAG -3'
(R):5'- TAAAGCCACAGGTTCCTC -3'
Posted On 2014-10-30