Incidental Mutation 'R4056:Gabarapl1'
ID 314242
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 041617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4056 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 129510155-129519294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129515593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 77 (F77S)
Ref Sequence ENSEMBL: ENSMUSP00000145175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032264] [ENSMUST00000204487] [ENSMUST00000204639] [ENSMUST00000204956]
AlphaFold Q8R3R8
Predicted Effect probably damaging
Transcript: ENSMUST00000032264
AA Change: F77S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032264
Gene: ENSMUSG00000030161
AA Change: F77S

DomainStartEndE-ValueType
Pfam:Atg8 13 116 4.6e-52 PFAM
Pfam:APG12 30 116 5.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204323
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: F77S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145175
Gene: ENSMUSG00000030161
AA Change: F77S

DomainStartEndE-ValueType
Pfam:Atg8 13 116 4.6e-52 PFAM
Pfam:APG12 30 116 5.7e-11 PFAM
Meta Mutation Damage Score 0.9342 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T A 11: 80,266,329 (GRCm39) probably benign Het
Abcf1 A G 17: 36,270,807 (GRCm39) I510T possibly damaging Het
Adamts18 T A 8: 114,464,212 (GRCm39) K749* probably null Het
Alms1 A G 6: 85,564,785 (GRCm39) E53G unknown Het
Bmper A G 9: 23,310,925 (GRCm39) H453R probably benign Het
Btg1 T A 10: 96,454,216 (GRCm39) M1K probably null Het
Cfap91 A G 16: 38,118,576 (GRCm39) V741A probably benign Het
Cntfr A G 4: 41,658,900 (GRCm39) I277T probably damaging Het
Col6a4 C A 9: 105,903,665 (GRCm39) R1642I probably damaging Het
Ctnna3 T C 10: 64,838,347 (GRCm39) I808T probably damaging Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dnah17 T C 11: 117,961,364 (GRCm39) T2554A probably benign Het
Fcgbp A T 7: 27,803,541 (GRCm39) Q1715L probably benign Het
Gvin3 G T 7: 106,203,216 (GRCm39) D9E possibly damaging Het
Hpse2 T C 19: 43,282,714 (GRCm39) K180E probably damaging Het
Hs3st2 T A 7: 121,099,925 (GRCm39) L257Q probably damaging Het
Ighv1-18 T C 12: 114,646,287 (GRCm39) T106A probably benign Het
Ints2 A C 11: 86,133,778 (GRCm39) L424R probably damaging Het
Iqgap2 A G 13: 95,886,541 (GRCm39) V114A probably damaging Het
Kalrn A T 16: 34,134,579 (GRCm39) I401N probably damaging Het
Mast2 T A 4: 116,194,698 (GRCm39) probably benign Het
Myo18a A G 11: 77,702,839 (GRCm39) E5G possibly damaging Het
Nav3 A T 10: 109,716,394 (GRCm39) probably null Het
Net1 G A 13: 3,934,949 (GRCm39) T359I probably damaging Het
Pcsk9 T A 4: 106,301,899 (GRCm39) H616L probably benign Het
Plekha5 G T 6: 140,534,958 (GRCm39) V597L possibly damaging Het
Plekhg3 T A 12: 76,612,021 (GRCm39) I374N probably damaging Het
Pros1 A T 16: 62,721,008 (GRCm39) R188* probably null Het
Rhbg C T 3: 88,150,755 (GRCm39) V434I probably damaging Het
Rims1 A G 1: 22,363,163 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,098 (GRCm39) probably null Het
Sbf2 T C 7: 110,040,673 (GRCm39) I385V probably damaging Het
Slc22a23 A C 13: 34,482,987 (GRCm39) Y181* probably null Het
Spata31 T A 13: 65,069,469 (GRCm39) V539E probably benign Het
Trpv5 G A 6: 41,636,639 (GRCm39) R436C probably damaging Het
Vmn1r13 G A 6: 57,186,970 (GRCm39) C43Y probably benign Het
Wif1 G A 10: 120,918,099 (GRCm39) V156I probably benign Het
Zfyve16 T C 13: 92,641,057 (GRCm39) N1229S 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
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
R8405:Gabarapl1 UTSW 6 129,514,497 (GRCm39) missense probably null 0.97
Z1177:Gabarapl1 UTSW 6 129,518,184 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTTCCCACTAAGGCTCTCGG -3'
(R):5'- AGGGTATCTAATCTCCCAGCGTC -3'

Sequencing Primer
(F):5'- ACTAAGGCTCTCGGACAGCTTTTG -3'
(R):5'- TAATCTCCCAGCGTCACAGTG -3'
Posted On 2015-04-30