Incidental Mutation 'R8768:Atxn7l2'
ID664207
Institutional Source Beutler Lab
Gene Symbol Atxn7l2
Ensembl Gene ENSMUSG00000048997
Gene Nameataxin 7-like 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.358) question?
Stock #R8768 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location108202222-108210934 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108206934 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 171 (N171D)
Ref Sequence ENSEMBL: ENSMUSP00000099693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102633] [ENSMUST00000117409] [ENSMUST00000117784] [ENSMUST00000119650] [ENSMUST00000127157] [ENSMUST00000141387]
Predicted Effect probably benign
Transcript: ENSMUST00000102633
AA Change: N171D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997
AA Change: N171D

DomainStartEndE-ValueType
low complexity region 55 63 N/A INTRINSIC
Pfam:SCA7 198 265 3.9e-29 PFAM
low complexity region 333 352 N/A INTRINSIC
low complexity region 356 363 N/A INTRINSIC
low complexity region 435 452 N/A INTRINSIC
low complexity region 515 532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117409
AA Change: N139D

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997
AA Change: N139D

DomainStartEndE-ValueType
low complexity region 55 63 N/A INTRINSIC
Pfam:SCA7 164 235 1.2e-31 PFAM
low complexity region 301 320 N/A INTRINSIC
low complexity region 324 331 N/A INTRINSIC
low complexity region 403 420 N/A INTRINSIC
low complexity region 483 500 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117784
AA Change: N171D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997
AA Change: N171D

DomainStartEndE-ValueType
low complexity region 55 63 N/A INTRINSIC
Pfam:SCA7 196 267 1.6e-31 PFAM
low complexity region 333 352 N/A INTRINSIC
low complexity region 356 363 N/A INTRINSIC
low complexity region 435 452 N/A INTRINSIC
low complexity region 515 532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119650
AA Change: N136D

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997
AA Change: N136D

DomainStartEndE-ValueType
low complexity region 20 28 N/A INTRINSIC
Pfam:SCA7 161 232 1.2e-31 PFAM
low complexity region 298 317 N/A INTRINSIC
low complexity region 321 328 N/A INTRINSIC
low complexity region 400 417 N/A INTRINSIC
low complexity region 480 497 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127157
SMART Domains Protein: ENSMUSP00000119223
Gene: ENSMUSG00000048997

DomainStartEndE-ValueType
Blast:ZnF_C2H2 23 45 1e-5 BLAST
low complexity region 55 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141387
SMART Domains Protein: ENSMUSP00000116756
Gene: ENSMUSG00000027887

DomainStartEndE-ValueType
low complexity region 9 65 N/A INTRINSIC
Pfam:MARVEL 107 309 7.2e-41 PFAM
low complexity region 318 326 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b A T 1: 36,701,507 C222S probably benign Het
Actrt3 T G 3: 30,597,843 R367S probably damaging Het
Alg1 T C 16: 5,242,552 V379A probably damaging Het
Ankrd36 A G 11: 5,643,763 E456G probably benign Het
Arhgef33 G T 17: 80,373,719 A763S possibly damaging Het
Armc5 T G 7: 128,242,611 V597G probably benign Het
Asb10 G T 5: 24,533,692 R456S probably damaging Het
Asph A G 4: 9,453,417 F702L probably damaging Het
Atf7 T A 15: 102,540,889 T326S probably benign Het
BC049715 T A 6: 136,839,981 M73K possibly damaging Het
C2cd6 A G 1: 59,066,153 V322A probably benign Het
Cadps2 A C 6: 23,382,939 C807W probably damaging Het
Ccdc57 C T 11: 120,897,962 R353H probably benign Het
Ccdc89 T C 7: 90,426,585 M1T probably null Het
Cntn1 G A 15: 92,234,466 V148M probably damaging Het
Csmd3 T A 15: 47,698,176 I1335F Het
Dap3 A G 3: 88,927,027 M294T probably damaging Het
Dbh A G 2: 27,170,316 D168G probably benign Het
Dchs2 C A 3: 83,346,285 A2334E probably benign Het
Dhtkd1 T C 2: 5,898,722 T918A probably benign Het
Dmgdh C T 13: 93,688,610 T147I possibly damaging Het
Dmxl2 T G 9: 54,393,821 K2335N possibly damaging Het
Efna5 T C 17: 62,881,130 M1V probably null Het
Fpr-rs3 T C 17: 20,624,682 N66D probably damaging Het
Gas2l2 C A 11: 83,423,173 A438S probably benign Het
Hivep3 T C 4: 120,132,324 S1991P probably damaging Het
Hsp90b1 A T 10: 86,705,305 probably null Het
Iars T A 13: 49,724,626 N875K probably damaging Het
Jag1 A C 2: 137,101,601 M225R possibly damaging Het
Kcnn2 C T 18: 45,559,435 S26L possibly damaging Het
Kctd2 T C 11: 115,420,453 S96P probably damaging Het
Klhl25 A G 7: 75,866,611 N422D probably damaging Het
Lhx8 A T 3: 154,322,249 V222E possibly damaging Het
Lrig1 A T 6: 94,654,859 V120D possibly damaging Het
Manba T A 3: 135,551,234 S553T probably damaging Het
Mllt10 T A 2: 18,162,772 S503T probably damaging Het
Nxpe4 A G 9: 48,392,750 N46D probably benign Het
Olfr364-ps1 C T 2: 37,147,004 S264L probably benign Het
Olfr914 A C 9: 38,607,145 K227Q probably benign Het
Pdzd2 C T 15: 12,437,166 E450K probably damaging Het
Phrf1 T A 7: 141,258,738 F615L unknown Het
Plch2 C A 4: 154,998,867 G538V probably damaging Het
Ppp2r2d T A 7: 138,874,168 I235N probably damaging Het
Prdm15 A T 16: 97,837,688 D57E probably benign Het
Psd3 T C 8: 67,964,351 D45G probably damaging Het
Ptger4 T A 15: 5,242,657 R185S probably benign Het
Ptp4a2 T A 4: 129,846,506 M121K probably damaging Het
Ptpre T G 7: 135,681,577 F659V possibly damaging Het
Rad54l2 T G 9: 106,719,610 D199A probably benign Het
Rap1gds1 T C 3: 138,941,760 M556V probably benign Het
Scaf8 T C 17: 3,193,074 V711A probably benign Het
Sesn3 G A 9: 14,314,668 C233Y probably damaging Het
Slc45a1 T A 4: 150,629,749 I680F probably damaging Het
Slco1a6 C T 6: 142,133,171 V133M probably benign Het
Syt6 T C 3: 103,585,534 L119P probably benign Het
Szt2 A C 4: 118,369,416 S2974R unknown Het
Taok1 A T 11: 77,553,886 H454Q probably damaging Het
Tbx10 G A 19: 3,997,303 V136M probably damaging Het
Tespa1 A G 10: 130,362,158 T350A probably benign Het
Tnks1bp1 T A 2: 85,070,636 Y1562* probably null Het
Trank1 T A 9: 111,389,276 F1908Y probably benign Het
Trav6d-4 A T 14: 52,753,786 H96L possibly damaging Het
Tspoap1 T C 11: 87,778,371 I1490T probably benign Het
Ttc21a T C 9: 119,941,220 F119S probably damaging Het
Ttll3 T G 6: 113,408,988 M594R probably damaging Het
Ttn T A 2: 76,968,446 R495* probably null Het
Twf1 A C 15: 94,581,229 L250V probably damaging Het
Ubr4 A T 4: 139,421,765 E458D Het
Unc50 T C 1: 37,437,163 F135L probably benign Het
Vwa3a T A 7: 120,776,076 I371N probably damaging Het
Zfp180 T C 7: 24,105,736 S527P probably damaging Het
Zfp512 T A 5: 31,473,538 I408N probably damaging Het
Zfp57 A G 17: 37,006,185 T52A probably benign Het
Other mutations in Atxn7l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Atxn7l2 APN 3 108203543 missense probably damaging 1.00
IGL02381:Atxn7l2 APN 3 108204495 unclassified probably benign
IGL03179:Atxn7l2 APN 3 108203647 nonsense probably null
R0610:Atxn7l2 UTSW 3 108204774 missense possibly damaging 0.80
R1454:Atxn7l2 UTSW 3 108208432 unclassified probably benign
R2474:Atxn7l2 UTSW 3 108203977 missense probably damaging 0.96
R4319:Atxn7l2 UTSW 3 108205832 missense probably damaging 1.00
R4322:Atxn7l2 UTSW 3 108205832 missense probably damaging 1.00
R4324:Atxn7l2 UTSW 3 108205832 missense probably damaging 1.00
R4797:Atxn7l2 UTSW 3 108204550 missense probably damaging 1.00
R5825:Atxn7l2 UTSW 3 108204811 missense probably damaging 1.00
R5916:Atxn7l2 UTSW 3 108205662 splice site probably null
R7706:Atxn7l2 UTSW 3 108207403 missense probably damaging 0.98
R8109:Atxn7l2 UTSW 3 108203301 missense probably damaging 1.00
R8470:Atxn7l2 UTSW 3 108206969 missense probably benign 0.00
Z1176:Atxn7l2 UTSW 3 108205666 missense probably benign
Predicted Primers PCR Primer
(F):5'- GTAATGGTCAGACCTGGACAG -3'
(R):5'- ACGTGTAGCCTTTTCGTGC -3'

Sequencing Primer
(F):5'- GGACAGGTTCACTCCTTCC -3'
(R):5'- CCTGTGGTGAATCTGGAGAAGATATC -3'
Posted On2021-03-08