Incidental Mutation 'R8700:Atxn7l3'
ID 669015
Institutional Source Beutler Lab
Gene Symbol Atxn7l3
Ensembl Gene ENSMUSG00000059995
Gene Name ataxin 7-like 3
Synonyms E030022H21Rik
MMRRC Submission 068554-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8700 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102180126-102187457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102184747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 126 (M126K)
Ref Sequence ENSEMBL: ENSMUSP00000072967 (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 possibly damaging
Transcript: ENSMUST00000073234
AA Change: M126K

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995
AA Change: M126K

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 possibly damaging
Transcript: ENSMUST00000107132
AA Change: M126K

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995
AA Change: M126K

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 possibly damaging
Transcript: ENSMUST00000107134
AA Change: M126K

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995
AA Change: M126K

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 possibly damaging
Transcript: ENSMUST00000137387
AA Change: M122K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995
AA Change: M122K

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
SMART Domains Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995
AA Change: M17K

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 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 0.0618 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (59/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik T A 11: 50,833,344 (GRCm39) D86V unknown Het
Abtb2 C A 2: 103,397,289 (GRCm39) T73K probably damaging Het
Akr1c14 T C 13: 4,131,157 (GRCm39) probably benign Het
Anapc7 T A 5: 122,560,669 (GRCm39) M10K probably damaging Het
Ano7 T G 1: 93,316,329 (GRCm39) I204S probably damaging Het
Arhgef39 T A 4: 43,496,715 (GRCm39) Q333L probably benign Het
Art5 T C 7: 101,748,862 (GRCm39) probably benign Het
Asah1 T C 8: 41,813,312 (GRCm39) T34A probably benign Het
Atp9b T C 18: 80,796,361 (GRCm39) E894G Het
Cacna2d4 A G 6: 119,258,654 (GRCm39) D580G probably damaging Het
Calcoco2 T A 11: 95,994,330 (GRCm39) K74N probably benign Het
Ccdc163 T C 4: 116,571,348 (GRCm39) probably null Het
Cep164 T C 9: 45,686,667 (GRCm39) probably null Het
Chd7 T A 4: 8,833,892 (GRCm39) N1215K probably damaging Het
Chsy3 T C 18: 59,309,487 (GRCm39) Y247H probably damaging Het
Clec16a A G 16: 10,506,422 (GRCm39) Y714C probably damaging Het
Col12a1 A G 9: 79,527,371 (GRCm39) V2653A probably benign Het
Daam2 T A 17: 49,803,180 (GRCm39) K77N probably damaging Het
Dhx35 T A 2: 158,682,552 (GRCm39) M495K possibly damaging Het
Disp2 T A 2: 118,620,340 (GRCm39) C357* probably null Het
Dnah6 T A 6: 73,052,873 (GRCm39) probably benign Het
Dnah7a T G 1: 53,535,088 (GRCm39) D2724A possibly damaging Het
Entpd5 A T 12: 84,443,508 (GRCm39) D53E probably damaging Het
Fto T A 8: 92,249,461 (GRCm39) I431N probably damaging Het
Gabrr2 T C 4: 33,095,488 (GRCm39) I459T probably damaging Het
Gm5565 T A 5: 146,097,236 (GRCm39) I29F probably damaging Het
Gm9195 C T 14: 72,720,171 (GRCm39) G87R probably damaging Het
Grin2a T C 16: 9,397,412 (GRCm39) S892G probably benign Het
Katnip A G 7: 125,429,042 (GRCm39) probably benign Het
Mki67 T C 7: 135,307,436 (GRCm39) N106S Het
Myo16 T C 8: 10,463,172 (GRCm39) S580P unknown Het
Neo1 A G 9: 58,825,913 (GRCm39) S672P probably benign Het
Nxph3 A T 11: 95,401,706 (GRCm39) V236E probably damaging Het
Or10j7 G T 1: 173,011,429 (GRCm39) P191T probably benign Het
Or7e171-ps1 A C 9: 19,852,996 (GRCm39) L247V unknown Het
Pcdhb14 T C 18: 37,582,652 (GRCm39) V586A probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pja2 C T 17: 64,599,949 (GRCm39) D512N probably damaging Het
Ppfibp2 A G 7: 107,345,602 (GRCm39) T875A possibly damaging Het
Ppp3cc C A 14: 70,474,001 (GRCm39) C332F probably damaging Het
Pramel16 T A 4: 143,675,701 (GRCm39) H375L possibly damaging Het
Psg18 A T 7: 18,087,550 (GRCm39) V36D probably damaging Het
Ptprh A G 7: 4,567,190 (GRCm39) S561P probably damaging Het
Rhbdf2 G A 11: 116,498,230 (GRCm39) probably benign Het
Ripk2 T A 4: 16,158,422 (GRCm39) N61I possibly damaging Het
Setdb2 T C 14: 59,654,888 (GRCm39) Y318C probably damaging Het
Shc1 A G 3: 89,334,740 (GRCm39) D533G possibly damaging Het
Sirpb1a T C 3: 15,476,419 (GRCm39) E193G probably damaging Het
Slc41a2 T C 10: 83,152,097 (GRCm39) E126G probably damaging Het
Spata31h1 A T 10: 82,127,859 (GRCm39) I1717N possibly damaging Het
Srms C A 2: 180,848,521 (GRCm39) A413S probably damaging Het
Tob2 G T 15: 81,735,802 (GRCm39) R56S probably damaging Het
Unc119 T C 11: 78,238,137 (GRCm39) I105T probably benign Het
Unc13c T C 9: 73,479,679 (GRCm39) I1742V probably benign Het
Vmn1r46 C T 6: 89,953,325 (GRCm39) T58I probably benign Het
Vmn2r81 G T 10: 79,129,517 (GRCm39) V803F probably damaging Het
Zfp365 T C 10: 67,745,535 (GRCm39) K81R possibly damaging Het
Zfp974 G T 7: 27,609,472 (GRCm39) T751K possibly damaging Het
Zfpl1 T C 19: 6,132,464 (GRCm39) N149S 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
R1073: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
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'- AAGGGTATCTGTCCTTCACCC -3'
(R):5'- GTGCAATTGGTACCGAGGTG -3'

Sequencing Primer
(F):5'- CTTCTTGGCTGGGGGACAAC -3'
(R):5'- CAATTGGTACCGAGGTGTAGTC -3'
Posted On 2021-04-30