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 ORF3, Gasz, 4933400N19Rik
MMRRC Submission 044077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R5869 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 18050963-18109060 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 18074939 bp (GRCm39)
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: 77,161,450 (GRCm39) probably benign Het
Arsk T C 13: 76,239,903 (GRCm39) E100G probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Aspscr1 T C 11: 120,579,746 (GRCm39) I31T possibly damaging Het
Calm5 T A 13: 3,904,321 (GRCm39) probably benign Het
Car5a G A 8: 122,643,119 (GRCm39) T295I probably benign Het
Ccdc174 T A 6: 91,862,399 (GRCm39) probably benign Het
Celsr2 G A 3: 108,321,225 (GRCm39) A529V probably damaging Het
Cep192 A G 18: 67,948,935 (GRCm39) D252G probably benign Het
Clcnka A G 4: 141,122,276 (GRCm39) F217L probably benign Het
Cnot3 A T 7: 3,647,929 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,907 (GRCm39) probably benign Het
Cstf3 A G 2: 104,489,585 (GRCm39) probably null Het
Dcdc2a C T 13: 25,291,713 (GRCm39) P233S probably benign Het
Ddx55 A G 5: 124,706,745 (GRCm39) T581A probably benign Het
Exo1 T C 1: 175,728,849 (GRCm39) S638P possibly damaging Het
Fam135a T C 1: 24,068,511 (GRCm39) E616G possibly damaging Het
Fignl2 T C 15: 100,951,161 (GRCm39) S374G unknown Het
Gm4799 A T 10: 82,790,283 (GRCm39) noncoding transcript Het
Hectd4 T C 5: 121,481,288 (GRCm39) probably null Het
Ighv1-76 T C 12: 115,811,658 (GRCm39) E65G probably damaging Het
Igsf9b C A 9: 27,234,531 (GRCm39) H465Q probably benign Het
Itga9 A G 9: 118,492,957 (GRCm39) D284G probably damaging Het
Itpr1 T C 6: 108,450,490 (GRCm39) S1940P probably benign Het
Kcnb1 A G 2: 167,029,991 (GRCm39) S185P probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Krt1 A T 15: 101,758,566 (GRCm39) F199L probably damaging Het
Lpin2 A G 17: 71,539,271 (GRCm39) probably benign Het
Lrp1b A C 2: 40,894,615 (GRCm39) D2204E probably damaging Het
Mier3 T A 13: 111,851,384 (GRCm39) N427K probably damaging Het
Mmp12 GTAATAATAATAATAATAAT GTAATAATAATAATAAT 9: 7,348,446 (GRCm39) probably benign Het
Mroh3 T A 1: 136,113,861 (GRCm39) M643L probably benign Het
Myh11 A G 16: 14,048,664 (GRCm39) S548P probably damaging Het
Nat8f6 A C 6: 85,785,505 (GRCm39) L215V possibly damaging Het
Nlrp3 G A 11: 59,438,960 (GRCm39) R179Q probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Pias1 A T 9: 62,820,048 (GRCm39) D306E probably benign Het
Pick1 A G 15: 79,133,095 (GRCm39) D385G probably benign Het
Pitx3 A T 19: 46,125,735 (GRCm39) probably benign Het
Plpp3 T A 4: 105,052,159 (GRCm39) probably null Het
Prlhr C A 19: 60,456,059 (GRCm39) R169L probably damaging Het
Ptprf A C 4: 118,067,579 (GRCm39) M1872R probably damaging Het
Ptprh T C 7: 4,604,939 (GRCm39) D35G probably benign Het
Rnf130 A G 11: 49,976,642 (GRCm39) probably null Het
Rnf17 A C 14: 56,743,445 (GRCm39) E1337A possibly damaging Het
Sdk2 A G 11: 113,742,708 (GRCm39) Y734H probably damaging Het
Slc25a10 C T 11: 120,388,943 (GRCm39) T269I probably damaging Het
Slc4a11 A C 2: 130,526,379 (GRCm39) V855G probably benign Het
Slc5a5 C A 8: 71,344,974 (GRCm39) R111L probably damaging Het
Spart A T 3: 55,042,931 (GRCm39) M616L probably benign Het
Tmem229a T C 6: 24,954,686 (GRCm39) D356G probably damaging Het
Tmem30c A G 16: 57,086,925 (GRCm39) S293P probably damaging Het
Tnfrsf14 C A 4: 155,011,055 (GRCm39) probably null Het
Tnfrsf19 C T 14: 61,208,627 (GRCm39) R298H possibly damaging Het
Ttc21a A G 9: 119,787,858 (GRCm39) K809E probably benign Het
Ttn G A 2: 76,580,553 (GRCm39) P23447S probably damaging Het
Uap1 T A 1: 169,978,707 (GRCm39) probably null Het
Wdr82 A G 9: 106,062,503 (GRCm39) Q252R probably benign Het
Zfp523 T C 17: 28,413,967 (GRCm39) I34T probably benign Het
Zfp808 T A 13: 62,319,069 (GRCm39) H99Q probably damaging Het
Other mutations in Asz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Asz1 APN 6 18,055,541 (GRCm39) critical splice acceptor site probably null
IGL02691:Asz1 APN 6 18,076,556 (GRCm39) missense probably damaging 1.00
IGL02958:Asz1 APN 6 18,073,813 (GRCm39) missense possibly damaging 0.92
IGL03116:Asz1 APN 6 18,076,642 (GRCm39) splice site probably benign
H9600:Asz1 UTSW 6 18,055,424 (GRCm39) splice site probably benign
R0331:Asz1 UTSW 6 18,103,618 (GRCm39) splice site probably benign
R3441:Asz1 UTSW 6 18,108,405 (GRCm39) missense probably benign 0.06
R3896:Asz1 UTSW 6 18,075,766 (GRCm39) missense probably benign 0.17
R4596:Asz1 UTSW 6 18,103,592 (GRCm39) missense possibly damaging 0.82
R4683:Asz1 UTSW 6 18,055,541 (GRCm39) critical splice acceptor site probably benign
R5304:Asz1 UTSW 6 18,076,619 (GRCm39) missense probably benign 0.11
R6550:Asz1 UTSW 6 18,051,380 (GRCm39) missense probably damaging 0.96
R6672:Asz1 UTSW 6 18,075,817 (GRCm39) missense possibly damaging 0.92
R6850:Asz1 UTSW 6 18,108,942 (GRCm39) missense probably benign 0.00
R6894:Asz1 UTSW 6 18,055,520 (GRCm39) missense probably damaging 1.00
R7092:Asz1 UTSW 6 18,071,818 (GRCm39) splice site probably null
R7388:Asz1 UTSW 6 18,074,900 (GRCm39) missense probably benign 0.04
R7608:Asz1 UTSW 6 18,077,252 (GRCm39) missense probably damaging 1.00
R7885:Asz1 UTSW 6 18,104,876 (GRCm39) missense probably damaging 1.00
R7994:Asz1 UTSW 6 18,054,640 (GRCm39) missense probably benign 0.04
R8913:Asz1 UTSW 6 18,054,570 (GRCm39) missense probably benign 0.00
R8985:Asz1 UTSW 6 18,051,336 (GRCm39) missense probably benign 0.00
R9123:Asz1 UTSW 6 18,054,561 (GRCm39) missense probably benign 0.00
R9125:Asz1 UTSW 6 18,054,561 (GRCm39) missense probably benign 0.00
R9287:Asz1 UTSW 6 18,051,290 (GRCm39) missense possibly damaging 0.91
R9288:Asz1 UTSW 6 18,051,368 (GRCm39) missense possibly damaging 0.54
R9393:Asz1 UTSW 6 18,051,330 (GRCm39) missense probably benign 0.01
X0054:Asz1 UTSW 6 18,055,480 (GRCm39) 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