Incidental Mutation 'R7388:Asz1'
ID573253
Institutional Source Beutler Lab
Gene Symbol Asz1
Ensembl Gene ENSMUSG00000010796
Gene Nameankyrin repeat, SAM and basic leucine zipper domain containing 1
Synonyms4933400N19Rik, ORF3, Gasz
MMRRC Submission
Accession Numbers

Genbank: NM_023729.3

Is this an essential gene? Possibly non essential (E-score: 0.324) question?
Stock #R7388 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location18050964-18109061 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 18074901 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 271 (S271R)
Ref Sequence ENSEMBL: ENSMUSP00000010940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010940] [ENSMUST00000136194]
Predicted Effect probably benign
Transcript: ENSMUST00000010940
AA Change: S271R

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000010940
Gene: ENSMUSG00000010796
AA Change: S271R

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013F07Rik T C 3: 108,543,499 F86L possibly damaging Het
Afg3l2 T C 18: 67,422,953 E436G probably damaging Het
Agbl5 T A 5: 30,903,239 L759* probably null Het
Ankrd13b T C 11: 77,472,757 D460G probably benign Het
Apol10a A G 15: 77,489,025 D287G possibly damaging Het
Arhgap44 A T 11: 65,024,268 Y391* probably null Het
AW554918 A G 18: 25,340,113 N325D probably benign Het
Brinp2 A T 1: 158,255,009 L247Q probably damaging Het
Casz1 A G 4: 148,952,393 D1704G unknown Het
Cdk5rap1 G A 2: 154,360,675 R212W probably damaging Het
Cdkl2 T A 5: 92,019,459 T444S probably benign Het
Cers2 T G 3: 95,321,345 F160V probably benign Het
Cga T A 4: 34,907,076 M99K probably benign Het
Cspp1 C T 1: 10,065,347 R138* probably null Het
Dao T G 5: 114,015,212 *133E probably null Het
Ddx1 A T 12: 13,225,455 C544S probably null Het
Dgkq A T 5: 108,658,246 V98E probably damaging Het
Dnah6 T A 6: 73,192,317 T434S possibly damaging Het
Dntt A G 19: 41,038,979 N162D probably benign Het
Dpysl5 T C 5: 30,745,461 V79A probably benign Het
E130309D02Rik G A 5: 143,311,845 A149V probably benign Het
Ep300 T C 15: 81,648,366 C1602R unknown Het
Flrt3 C T 2: 140,661,752 probably null Het
Gk2 A G 5: 97,456,898 V27A probably damaging Het
Gm11639 T C 11: 104,721,045 L571P probably damaging Het
Gnpat T G 8: 124,887,814 M663R probably benign Het
Hc A T 2: 34,984,847 probably null Het
Il12rb1 A G 8: 70,810,627 Y67C probably damaging Het
Kmt2b C T 7: 30,581,960 D1229N probably damaging Het
Lamc1 T C 1: 153,249,076 T650A probably damaging Het
Lrp1 G A 10: 127,583,897 R948* probably null Het
Map3k21 T C 8: 125,927,597 I385T probably damaging Het
Mmrn1 T A 6: 60,976,252 S506T probably benign Het
Nlrp1a A G 11: 71,123,197 F409S probably damaging Het
Nlrp3 T A 11: 59,565,066 I896N probably benign Het
Noxred1 C A 12: 87,227,025 V81L probably damaging Het
Nrcam A T 12: 44,598,489 I1225F probably damaging Het
Olfr30 C T 11: 58,455,655 C98Y probably damaging Het
Otos T A 1: 92,644,519 probably null Het
Pcdh20 A G 14: 88,468,667 I399T probably benign Het
Pkhd1 C T 1: 20,239,304 V2807I not run Het
Prrx2 A G 2: 30,880,890 E235G probably damaging Het
Rab13 T C 3: 90,221,020 I41T probably damaging Het
Rai1 A C 11: 60,189,375 T1422P possibly damaging Het
Rcn1 C T 2: 105,391,991 V217M probably damaging Het
Scn2a T A 2: 65,688,654 V408E probably damaging Het
Sec16a C T 2: 26,428,364 A121T Het
Slc35d1 A G 4: 103,189,785 probably null Het
Slc39a6 A T 18: 24,584,049 V642E probably damaging Het
Slc6a19 G A 13: 73,693,084 A69V probably benign Het
Spink6 A T 18: 44,082,319 T79S probably damaging Het
Spire1 T C 18: 67,519,880 D170G probably damaging Het
Sugp1 T C 8: 70,052,619 S79P probably damaging Het
Syne3 A G 12: 104,967,908 Y201H probably damaging Het
Tbc1d10a T C 11: 4,205,858 probably null Het
Tmem14a C T 1: 21,229,511 Q122* probably null Het
Tmem161b C A 13: 84,222,418 probably benign Het
Trmt61a A G 12: 111,678,887 I86V possibly damaging Het
Tubgcp4 G A 2: 121,189,966 probably null Het
Vmn1r79 T A 7: 12,176,741 Y183* probably null Het
Vmn2r11 A T 5: 109,054,876 W112R probably benign Het
Vpreb1 T C 16: 16,868,652 K125E probably benign Het
Wdr6 A T 9: 108,574,772 F637L 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
R5869:Asz1 UTSW 6 18074940 unclassified probably benign
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 intron probably null
R7608:Asz1 UTSW 6 18077253 missense probably damaging 1.00
R7885:Asz1 UTSW 6 18104877 missense probably damaging 1.00
R7968:Asz1 UTSW 6 18104877 missense probably damaging 1.00
X0054:Asz1 UTSW 6 18055481 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAGAAATGAATGGCATGCTTG -3'
(R):5'- TTTCAGCTTTAGAAAGGAGGGGTAG -3'

Sequencing Primer
(F):5'- TGAATGGCATGCTTGAGAATAAAG -3'
(R):5'- GACAGAGAGAGAATCTAGTTTGTTCC -3'
Posted On2019-09-13