Incidental Mutation 'R3856:Atxn7l3'
ID 276173
Institutional Source Beutler Lab
Gene Symbol Atxn7l3
Ensembl Gene ENSMUSG00000059995
Gene Name ataxin 7-like 3
Synonyms E030022H21Rik
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3856 (G1)
Quality Score 220
Status Validated
Chromosome 11
Chromosomal Location 102180126-102187457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102184729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 128 (D128G)
Ref Sequence ENSEMBL: ENSMUSP00000122610 (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: D132G

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995
AA Change: D132G

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: D132G

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995
AA Change: D132G

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: D132G

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995
AA Change: D132G

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 damaging
Transcript: ENSMUST00000137387
AA Change: D128G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995
AA Change: D128G

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 unknown
Transcript: ENSMUST00000141516
AA Change: D23G
SMART Domains Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995
AA Change: D23G

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 0.1403 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Atxn7l1 A G 12: 33,417,599 (GRCm39) T587A probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eef2k T A 7: 120,498,594 (GRCm39) C91* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbxo40 A T 16: 36,789,445 (GRCm39) L555Q probably damaging Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr171 T C 3: 59,005,506 (GRCm39) T90A probably damaging Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Pudp T C 18: 50,701,124 (GRCm39) N203S probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc4a4 A C 5: 89,380,698 (GRCm39) S1015R probably benign Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P 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
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'- AGGGTATCTGTCCTTCACCC -3'
(R):5'- GTGCAATTGGTACCGAGGTG -3'

Sequencing Primer
(F):5'- CTTCTTGGCTGGGGGACAAC -3'
(R):5'- CAATTGGTACCGAGGTGTAGTC -3'
Posted On 2015-04-06