Incidental Mutation 'R8405:Gabarapl1'
ID 652346
Institutional Source Beutler Lab
Gene Symbol Gabarapl1
Ensembl Gene ENSMUSG00000030161
Gene Name GABA type A receptor associated protein like 1
Synonyms Atg8l, 3110025G09Rik, Apg8l, 9130422N19Rik, GECI
MMRRC Submission 067879-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8405 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 129510155-129519294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129514497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 45 (D45G)
Ref Sequence ENSEMBL: ENSMUSP00000032264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032264] [ENSMUST00000204487] [ENSMUST00000204639] [ENSMUST00000204956]
AlphaFold Q8R3R8
Predicted Effect probably null
Transcript: ENSMUST00000032264
AA Change: D45G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032264
Gene: ENSMUSG00000030161
AA Change: D45G

DomainStartEndE-ValueType
Pfam:Atg8 13 116 4.6e-52 PFAM
Pfam:APG12 30 116 5.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204487
SMART Domains Protein: ENSMUSP00000145078
Gene: ENSMUSG00000030161

DomainStartEndE-ValueType
low complexity region 33 51 N/A INTRINSIC
low complexity region 74 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204639
Predicted Effect probably damaging
Transcript: ENSMUST00000204956
AA Change: D45G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145175
Gene: ENSMUSG00000030161
AA Change: D45G

DomainStartEndE-ValueType
Pfam:Atg8 13 116 4.6e-52 PFAM
Pfam:APG12 30 116 5.7e-11 PFAM
Meta Mutation Damage Score 0.7634 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,635,165 (GRCm39) probably benign Het
Anxa3 C A 5: 96,978,295 (GRCm39) D226E probably benign Het
Anxa8 T C 14: 33,819,881 (GRCm39) L290P probably damaging Het
Brd4 C A 17: 32,448,505 (GRCm39) K57N unknown Het
Cpne8 T A 15: 90,456,235 (GRCm39) Q176L possibly damaging Het
Csf2rb2 T C 15: 78,172,093 (GRCm39) D439G possibly damaging Het
Csmd3 A G 15: 47,619,379 (GRCm39) S1832P probably damaging Het
Cux1 A G 5: 136,304,241 (GRCm39) S1320P possibly damaging Het
Cyp2t4 A T 7: 26,856,894 (GRCm39) probably null Het
Dnah2 A T 11: 69,349,289 (GRCm39) L2449Q probably damaging Het
Dock1 A G 7: 134,379,192 (GRCm39) M640V probably benign Het
Efcab3 G A 11: 104,612,024 (GRCm39) S622N probably benign Het
Ergic1 T A 17: 26,874,096 (GRCm39) I274N probably damaging Het
Fat3 T C 9: 15,907,167 (GRCm39) D2945G probably damaging Het
Fscb T C 12: 64,520,278 (GRCm39) E396G possibly damaging Het
Gab1 T A 8: 81,501,594 (GRCm39) R581* probably null Het
Gfap C A 11: 102,782,255 (GRCm39) Q418H probably benign Het
Gfap T A 11: 102,782,256 (GRCm39) Q418L probably benign Het
Hectd1 T A 12: 51,874,178 (GRCm39) M33L probably benign Het
Kcnh7 T A 2: 62,533,446 (GRCm39) K1144N probably benign Het
Lrit3 C T 3: 129,582,301 (GRCm39) G562D probably benign Het
Mab21l1 A T 3: 55,690,659 (GRCm39) Q82L probably damaging Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nav1 T C 1: 135,382,508 (GRCm39) K1258R unknown Het
Nbas C A 12: 13,329,394 (GRCm39) A113E probably damaging Het
Nlrp1b A T 11: 71,073,356 (GRCm39) D162E possibly damaging Het
Nr2c1 A T 10: 94,031,155 (GRCm39) H572L probably benign Het
Or52s1 A T 7: 102,861,408 (GRCm39) I114F probably benign Het
Or56b2j T A 7: 104,353,208 (GRCm39) S145T probably benign Het
Pcdha12 T A 18: 37,154,250 (GRCm39) V323E possibly damaging Het
Pgm5 T A 19: 24,705,106 (GRCm39) H469L probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pja2 T C 17: 64,616,505 (GRCm39) E130G possibly damaging Het
Ppp2r2b G C 18: 42,778,805 (GRCm39) D443E probably benign Het
Prdm9 T A 17: 15,764,456 (GRCm39) T775S probably benign Het
Rbm6 A G 9: 107,730,016 (GRCm39) S211P probably benign Het
Rgl2 C T 17: 34,152,698 (GRCm39) Q408* probably null Het
Rgs14 C T 13: 55,530,962 (GRCm39) R389W probably damaging Het
Rtcb T C 10: 85,793,534 (GRCm39) D13G probably benign Het
Slc23a4 C T 6: 34,923,145 (GRCm39) C280Y probably benign Het
Slc7a5 G T 8: 122,613,661 (GRCm39) T297K possibly damaging Het
Spef2 A G 15: 9,612,643 (GRCm39) V1229A probably benign Het
Stag3 A C 5: 138,302,914 (GRCm39) T1064P probably damaging Het
Tnnt1 A G 7: 4,510,592 (GRCm39) S211P probably damaging Het
Trim26 A G 17: 37,167,095 (GRCm39) D262G possibly damaging Het
Trim30a A T 7: 104,060,749 (GRCm39) Y342* probably null Het
Trpm7 T C 2: 126,658,755 (GRCm39) I1134V probably benign Het
Tsc22d1 G A 14: 76,655,734 (GRCm39) G738S probably damaging Het
Usp39 A G 6: 72,305,521 (GRCm39) F421L probably damaging Het
Vmn2r97 G A 17: 19,134,802 (GRCm39) probably null Het
Zfat T C 15: 68,018,410 (GRCm39) Y968C probably damaging Het
Other mutations in Gabarapl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Gabarapl1 APN 6 129,515,598 (GRCm39) missense probably benign 0.21
R0144:Gabarapl1 UTSW 6 129,510,411 (GRCm39) start codon destroyed probably null 0.97
R1186:Gabarapl1 UTSW 6 129,510,368 (GRCm39) start gained probably benign
R1459:Gabarapl1 UTSW 6 129,515,635 (GRCm39) missense possibly damaging 0.89
R1764:Gabarapl1 UTSW 6 129,510,481 (GRCm39) missense possibly damaging 0.70
R4056:Gabarapl1 UTSW 6 129,515,593 (GRCm39) missense probably damaging 1.00
R5936:Gabarapl1 UTSW 6 129,515,566 (GRCm39) missense probably benign 0.16
R6336:Gabarapl1 UTSW 6 129,514,491 (GRCm39) missense probably benign 0.13
Z1177:Gabarapl1 UTSW 6 129,518,184 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGTAGGGTGAATGACTTTTATAGC -3'
(R):5'- CTATCTGTACTGGCCAGCTC -3'

Sequencing Primer
(F):5'- AGCCCTTTATAGGTAATTTGTAGTTG -3'
(R):5'- GCTCACTGAAGGAAACCATGC -3'
Posted On 2020-10-20