Incidental Mutation 'R1073:Atxn7l3'
ID 85540
Institutional Source Beutler Lab
Gene Symbol Atxn7l3
Ensembl Gene ENSMUSG00000059995
Gene Name ataxin 7-like 3
Synonyms E030022H21Rik
MMRRC Submission 039159-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1073 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102180126-102187457 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to G at 102183261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036376] [ENSMUST00000073234] [ENSMUST00000107132] [ENSMUST00000107134] [ENSMUST00000137387] [ENSMUST00000156326]
AlphaFold A2AWT3
Predicted Effect probably benign
Transcript: ENSMUST00000036376
SMART Domains Protein: ENSMUSP00000047600
Gene: ENSMUSG00000034757

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
UBQ 173 242 1.75e-9 SMART
transmembrane domain 264 286 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073234
SMART Domains Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
Pfam:Sgf11 80 112 1.3e-21 PFAM
low complexity region 135 143 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
Pfam:SCA7 202 239 8.8e-10 PFAM
low complexity region 275 288 N/A INTRINSIC
low complexity region 302 316 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100387
SMART Domains Protein: ENSMUSP00000097956
Gene: ENSMUSG00000034757

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
UBQ 212 281 1.75e-9 SMART
transmembrane domain 303 325 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107132
SMART Domains Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
Pfam:Sgf11 80 112 1.1e-21 PFAM
low complexity region 135 143 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
Pfam:SCA7 209 246 7.8e-11 PFAM
low complexity region 282 295 N/A INTRINSIC
low complexity region 309 323 N/A INTRINSIC
low complexity region 335 345 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107134
SMART Domains Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
Pfam:Sgf11 80 112 1.3e-21 PFAM
low complexity region 135 143 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
Pfam:SCA7 202 239 8.8e-10 PFAM
low complexity region 275 288 N/A INTRINSIC
low complexity region 302 316 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135551
Predicted Effect probably benign
Transcript: ENSMUST00000137387
SMART Domains Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
Pfam:Sgf11 76 108 2.6e-21 PFAM
low complexity region 131 139 N/A INTRINSIC
low complexity region 146 155 N/A INTRINSIC
Pfam:SCA7 205 242 1.9e-9 PFAM
low complexity region 278 291 N/A INTRINSIC
low complexity region 305 319 N/A INTRINSIC
low complexity region 331 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141516
SMART Domains Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 27 35 N/A INTRINSIC
low complexity region 42 51 N/A INTRINSIC
Pfam:SCA7 113 150 6.7e-11 PFAM
low complexity region 186 199 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
low complexity region 239 249 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145484
Predicted Effect probably benign
Transcript: ENSMUST00000156326
SMART Domains Protein: ENSMUSP00000116327
Gene: ENSMUSG00000034757

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
UBQ 173 242 1.75e-9 SMART
transmembrane domain 264 286 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.5%
Validation Efficiency 98% (40/41)
MGI Phenotype PHENOTYPE: Mouse embryonic stem cells homozygous for a knock-out allele exhibit strikingly increased H2B monoubiquitination (H2Bub) levels and fail to show loss of global H2Bub following inhibition of transcriptional elongation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap3 T C 4: 135,963,742 (GRCm39) I334T probably damaging Het
Cacna2d3 T A 14: 28,767,580 (GRCm39) H765L probably damaging Het
Cngb1 A G 8: 96,030,195 (GRCm39) probably null Het
Csmd1 C T 8: 16,408,477 (GRCm39) probably benign Het
Cux1 A T 5: 136,281,395 (GRCm39) probably null Het
D7Ertd443e T C 7: 133,871,947 (GRCm39) K232R probably damaging Het
Dock6 A G 9: 21,757,814 (GRCm39) S97P probably benign Het
Eml5 G A 12: 98,797,232 (GRCm39) A1099V probably damaging Het
Gtf2h1 G A 7: 46,466,368 (GRCm39) A472T probably damaging Het
Krt82 T A 15: 101,458,689 (GRCm39) D117V probably damaging Het
Lrfn5 A G 12: 61,887,595 (GRCm39) Y461C probably damaging Het
Mmrn2 G A 14: 34,118,251 (GRCm39) probably null Het
Mrtfb T A 16: 13,230,182 (GRCm39) S956T possibly damaging Het
Msrb3 T A 10: 120,620,041 (GRCm39) S93C possibly damaging Het
Ncl AAAGCCTCCC AAAGCCTCCCAAGCCTCCC 1: 86,278,538 (GRCm39) probably benign Het
Or8k41 A G 2: 86,313,984 (GRCm39) I34T probably damaging Het
Osbpl10 C T 9: 115,036,621 (GRCm39) Q381* probably null Het
Pelp1 A G 11: 70,287,416 (GRCm39) L464P probably damaging Het
Pigs A G 11: 78,226,431 (GRCm39) D216G probably benign Het
Ptprk T C 10: 28,372,943 (GRCm39) probably null Het
Pyroxd1 T C 6: 142,294,370 (GRCm39) probably null Het
Ros1 T A 10: 51,922,221 (GRCm39) D2284V probably damaging Het
Rptor T C 11: 119,634,717 (GRCm39) S178P possibly damaging Het
Slc8a1 C T 17: 81,955,836 (GRCm39) D401N probably damaging Het
Tas2r143 T C 6: 42,377,694 (GRCm39) Y175H probably benign Het
Tdrd9 T C 12: 111,989,693 (GRCm39) S502P probably damaging Het
Tmem38a A G 8: 73,333,947 (GRCm39) H142R probably damaging Het
Tmem44 A G 16: 30,333,651 (GRCm39) probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Umod A G 7: 119,063,964 (GRCm39) V614A possibly damaging Het
Vmn2r5 A T 3: 64,398,726 (GRCm39) L751* probably null Het
Wdr37 A T 13: 8,855,876 (GRCm39) I489N probably damaging Het
Xdh T C 17: 74,246,831 (GRCm39) T78A probably benign Het
Zfp866 A T 8: 70,220,272 (GRCm39) probably benign Het
Other mutations in Atxn7l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Atxn7l3 APN 11 102,185,807 (GRCm39) missense probably benign 0.00
IGL01629:Atxn7l3 APN 11 102,183,320 (GRCm39) unclassified probably benign
R0333:Atxn7l3 UTSW 11 102,185,818 (GRCm39) splice site probably null
R0967:Atxn7l3 UTSW 11 102,183,261 (GRCm39) unclassified probably benign
R0970:Atxn7l3 UTSW 11 102,183,261 (GRCm39) unclassified probably benign
R1388:Atxn7l3 UTSW 11 102,183,261 (GRCm39) unclassified probably benign
R1518:Atxn7l3 UTSW 11 102,185,340 (GRCm39) missense probably benign 0.04
R2119:Atxn7l3 UTSW 11 102,182,807 (GRCm39) missense possibly damaging 0.63
R3708:Atxn7l3 UTSW 11 102,182,705 (GRCm39) unclassified probably benign
R3856:Atxn7l3 UTSW 11 102,184,729 (GRCm39) missense probably damaging 1.00
R8700:Atxn7l3 UTSW 11 102,184,747 (GRCm39) missense possibly damaging 0.52
R8878:Atxn7l3 UTSW 11 102,183,545 (GRCm39) missense probably benign 0.10
R8913:Atxn7l3 UTSW 11 102,185,787 (GRCm39) missense probably damaging 0.99
R8973:Atxn7l3 UTSW 11 102,183,598 (GRCm39) missense probably benign 0.03
R9045:Atxn7l3 UTSW 11 102,183,272 (GRCm39) missense probably damaging 0.99
R9624:Atxn7l3 UTSW 11 102,182,852 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGGAAAGGTCACTTACGCCGAG -3'
(R):5'- ACTGGGATCAGCTATGAGACCCTG -3'

Sequencing Primer
(F):5'- TGATCAGACCCTGACAAGGC -3'
(R):5'- TAGCAGCAGGAGCCATAGTTTTC -3'
Posted On 2013-11-18