Incidental Mutation 'R5869:Asz1'
ID 454322
Institutional Source Beutler Lab
Gene Symbol Asz1
Ensembl Gene ENSMUSG00000010796
Gene Name ankyrin repeat, SAM and basic leucine zipper domain containing 1
Synonyms 4933400N19Rik, ORF3, Gasz
MMRRC Submission 044077-MU
Accession Numbers

Genbank: NM_023729.3

Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R5869 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 18050964-18109061 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 18074940 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010940] [ENSMUST00000136194]
AlphaFold Q8VD46
Predicted Effect probably benign
Transcript: ENSMUST00000010940
SMART Domains Protein: ENSMUSP00000010940
Gene: ENSMUSG00000010796

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
ANK 45 74 4.86e1 SMART
ANK 78 107 4.03e-5 SMART
ANK 110 144 2.3e0 SMART
ANK 148 177 3.46e-4 SMART
ANK 181 210 1.05e-3 SMART
SAM 271 336 5.64e-3 SMART
Blast:ANK 385 414 5e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131614
Predicted Effect probably benign
Transcript: ENSMUST00000136194
SMART Domains Protein: ENSMUSP00000122680
Gene: ENSMUSG00000010796

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
ANK 45 74 4.86e1 SMART
ANK 78 107 4.03e-5 SMART
ANK 110 144 2.3e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146216
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 93% (68/73)
MGI Phenotype PHENOTYPE: Homozygous null male mice are sterile resulting from a block in spermatid development [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,325,616 probably benign Het
Arsk T C 13: 76,091,784 E100G probably benign Het
Ascc3 C T 10: 50,842,183 R1991* probably null Het
Aspscr1 T C 11: 120,688,920 I31T possibly damaging Het
Calm5 T A 13: 3,854,321 probably benign Het
Car5a G A 8: 121,916,380 T295I probably benign Het
Ccdc174 T A 6: 91,885,418 probably benign Het
Celsr2 G A 3: 108,413,909 A529V probably damaging Het
Cep192 A G 18: 67,815,864 D252G probably benign Het
Clcnka A G 4: 141,394,965 F217L probably benign Het
Cnot3 A T 7: 3,644,930 probably benign Het
Coro1c A G 5: 113,850,846 probably benign Het
Cstf3 A G 2: 104,659,240 probably null Het
Dcdc2a C T 13: 25,107,730 P233S probably benign Het
Ddx55 A G 5: 124,568,682 T581A probably benign Het
Exo1 T C 1: 175,901,283 S638P possibly damaging Het
Fam135a T C 1: 24,029,430 E616G possibly damaging Het
Fignl2 T C 15: 101,053,280 S374G unknown Het
Gm4799 A T 10: 82,954,449 noncoding transcript Het
Hectd4 T C 5: 121,343,225 probably null Het
Ighv1-76 T C 12: 115,848,038 E65G probably damaging Het
Igsf9b C A 9: 27,323,235 H465Q probably benign Het
Itga9 A G 9: 118,663,889 D284G probably damaging Het
Itpr1 T C 6: 108,473,529 S1940P probably benign Het
Kcnb1 A G 2: 167,188,071 S185P probably benign Het
Kif20a G A 18: 34,632,415 A822T probably benign Het
Krt1 A T 15: 101,850,131 F199L probably damaging Het
Lpin2 A G 17: 71,232,276 probably benign Het
Lrp1b A C 2: 41,004,603 D2204E probably damaging Het
Mier3 T A 13: 111,714,850 N427K probably damaging Het
Mmp12 GTAATAATAATAATAATAAT GTAATAATAATAATAAT 9: 7,348,446 probably benign Het
Mroh3 T A 1: 136,186,123 M643L probably benign Het
Myh11 A G 16: 14,230,800 S548P probably damaging Het
Nat8f6 A C 6: 85,808,523 L215V possibly damaging Het
Nlrp3 G A 11: 59,548,134 R179Q probably damaging Het
Nup88 T C 11: 70,969,671 E94G probably benign Het
Pias1 A T 9: 62,912,766 D306E probably benign Het
Pick1 A G 15: 79,248,895 D385G probably benign Het
Pitx3 A T 19: 46,137,296 probably benign Het
Plpp3 T A 4: 105,194,962 probably null Het
Prlhr C A 19: 60,467,621 R169L probably damaging Het
Ptprf A C 4: 118,210,382 M1872R probably damaging Het
Ptprh T C 7: 4,601,940 D35G probably benign Het
Rnf130 A G 11: 50,085,815 probably null Het
Rnf17 A C 14: 56,505,988 E1337A possibly damaging Het
Sdk2 A G 11: 113,851,882 Y734H probably damaging Het
Slc25a10 C T 11: 120,498,117 T269I probably damaging Het
Slc4a11 A C 2: 130,684,459 V855G probably benign Het
Slc5a5 C A 8: 70,892,330 R111L probably damaging Het
Spg20 A T 3: 55,135,510 M616L probably benign Het
Tmem229a T C 6: 24,954,687 D356G probably damaging Het
Tmem30c A G 16: 57,266,562 S293P probably damaging Het
Tnfrsf14 C A 4: 154,926,598 probably null Het
Tnfrsf19 C T 14: 60,971,178 R298H possibly damaging Het
Ttc21a A G 9: 119,958,792 K809E probably benign Het
Ttn G A 2: 76,750,209 P23447S probably damaging Het
Uap1 T A 1: 170,151,138 probably null Het
Wdr82 A G 9: 106,185,304 Q252R probably benign Het
Zfp523 T C 17: 28,194,993 I34T probably benign Het
Zfp808 T A 13: 62,171,255 H99Q probably damaging Het
Other mutations in Asz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Asz1 APN 6 18055542 critical splice acceptor site probably null
IGL02691:Asz1 APN 6 18076557 missense probably damaging 1.00
IGL02958:Asz1 APN 6 18073814 missense possibly damaging 0.92
IGL03116:Asz1 APN 6 18076643 splice site probably benign
H9600:Asz1 UTSW 6 18055425 splice site probably benign
R0331:Asz1 UTSW 6 18103619 splice site probably benign
R3441:Asz1 UTSW 6 18108406 missense probably benign 0.06
R3896:Asz1 UTSW 6 18075767 missense probably benign 0.17
R4596:Asz1 UTSW 6 18103593 missense possibly damaging 0.82
R4683:Asz1 UTSW 6 18055542 critical splice acceptor site probably benign
R5304:Asz1 UTSW 6 18076620 missense probably benign 0.11
R6550:Asz1 UTSW 6 18051381 missense probably damaging 0.96
R6672:Asz1 UTSW 6 18075818 missense possibly damaging 0.92
R6850:Asz1 UTSW 6 18108943 missense probably benign 0.00
R6894:Asz1 UTSW 6 18055521 missense probably damaging 1.00
R7092:Asz1 UTSW 6 18071819 splice site probably null
R7388:Asz1 UTSW 6 18074901 missense probably benign 0.04
R7608:Asz1 UTSW 6 18077253 missense probably damaging 1.00
R7885:Asz1 UTSW 6 18104877 missense probably damaging 1.00
R7994:Asz1 UTSW 6 18054641 missense probably benign 0.04
R8913:Asz1 UTSW 6 18054571 missense probably benign 0.00
R8985:Asz1 UTSW 6 18051337 missense probably benign 0.00
R9123:Asz1 UTSW 6 18054562 missense probably benign 0.00
R9125:Asz1 UTSW 6 18054562 missense probably benign 0.00
R9287:Asz1 UTSW 6 18051291 missense possibly damaging 0.91
R9288:Asz1 UTSW 6 18051369 missense possibly damaging 0.54
R9393:Asz1 UTSW 6 18051331 missense probably benign 0.01
X0054:Asz1 UTSW 6 18055481 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAGAAATGAATGGCATGCTTG -3'
(R):5'- TTTCAGCTTTAGAAAGGAGGGG -3'

Sequencing Primer
(F):5'- TGAATGGCATGCTTGAGAATAAAG -3'
(R):5'- CAGCTTTAGAAAGGAGGGGTAGAAAG -3'
Posted On 2017-02-10