Incidental Mutation 'IGL02335:Gdap1l1'
ID 289676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdap1l1
Ensembl Gene ENSMUSG00000017943
Gene Name ganglioside-induced differentiation-associated protein 1-like 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # IGL02335
Quality Score
Status
Chromosome 2
Chromosomal Location 163280396-163297244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 163289515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 160 (Y160F)
Ref Sequence ENSEMBL: ENSMUSP00000105048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018087] [ENSMUST00000109420] [ENSMUST00000109421] [ENSMUST00000137070]
AlphaFold Q8VE33
Predicted Effect probably benign
Transcript: ENSMUST00000018087
AA Change: Y157F

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018087
Gene: ENSMUSG00000017943
AA Change: Y157F

DomainStartEndE-ValueType
Pfam:GST_N 45 120 3.1e-8 PFAM
Pfam:GST_N_3 49 126 1.1e-13 PFAM
Pfam:GST_N_2 55 121 7.1e-10 PFAM
Pfam:GST_C_2 206 304 3.1e-8 PFAM
transmembrane domain 340 362 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109420
AA Change: Y157F

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105047
Gene: ENSMUSG00000017943
AA Change: Y157F

DomainStartEndE-ValueType
Pfam:GST_N 45 120 3.1e-8 PFAM
Pfam:GST_N_3 49 126 1.1e-13 PFAM
Pfam:GST_N_2 55 121 7.1e-10 PFAM
Pfam:GST_C_2 206 304 3.1e-8 PFAM
transmembrane domain 340 362 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109421
AA Change: Y160F

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105048
Gene: ENSMUSG00000017943
AA Change: Y160F

DomainStartEndE-ValueType
Pfam:GST_N 45 123 1.2e-8 PFAM
Pfam:GST_N_3 49 129 3.3e-10 PFAM
Pfam:GST_N_2 62 124 7.6e-9 PFAM
Pfam:GST_C_2 182 307 8.2e-9 PFAM
Pfam:GST_C 201 311 3.4e-8 PFAM
transmembrane domain 343 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137070
SMART Domains Protein: ENSMUSP00000119421
Gene: ENSMUSG00000017943

DomainStartEndE-ValueType
Pfam:GST_N 45 120 2.3e-8 PFAM
Pfam:GST_N_3 49 126 1.6e-13 PFAM
Pfam:GST_N_2 55 121 1.1e-9 PFAM
Pfam:GST_C_2 142 246 3.1e-8 PFAM
Pfam:GST_C 146 251 1.6e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C T 9: 99,502,266 (GRCm39) T142I probably benign Het
Aadacl2fm2 G A 3: 59,651,026 (GRCm39) M49I probably benign Het
Acaca A G 11: 84,105,084 (GRCm39) T147A possibly damaging Het
Agbl3 A G 6: 34,776,685 (GRCm39) D397G probably damaging Het
Ank1 C T 8: 23,625,654 (GRCm39) T1597M possibly damaging Het
Arl4d A G 11: 101,557,755 (GRCm39) T94A possibly damaging Het
Cd22 A G 7: 30,575,559 (GRCm39) I161T probably damaging Het
Clcn7 C T 17: 25,365,821 (GRCm39) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm39) N110K possibly damaging Het
Col14a1 A T 15: 55,327,165 (GRCm39) probably benign Het
Col6a6 C T 9: 105,661,300 (GRCm39) V270M probably damaging Het
Cox8b C A 7: 140,478,990 (GRCm39) G42W probably damaging Het
Csn1s1 A T 5: 87,828,704 (GRCm39) D275V probably benign Het
Cubn T A 2: 13,432,645 (GRCm39) probably null Het
Dctn2 T C 10: 127,111,690 (GRCm39) probably benign Het
Dnm1l A G 16: 16,160,604 (GRCm39) probably benign Het
Dpp4 T C 2: 62,164,988 (GRCm39) E687G probably benign Het
Fbxw20 T C 9: 109,052,377 (GRCm39) K249E possibly damaging Het
Fhl2 C T 1: 43,167,550 (GRCm39) W181* probably null Het
G2e3 T A 12: 51,415,941 (GRCm39) M559K probably benign Het
Gm1110 T C 9: 26,793,059 (GRCm39) I572M probably benign Het
Gpatch2l T A 12: 86,303,711 (GRCm39) probably benign Het
Kcnq4 A G 4: 120,573,051 (GRCm39) L250P probably damaging Het
Lamc2 A T 1: 153,041,962 (GRCm39) N57K probably benign Het
Lingo1 A G 9: 56,527,365 (GRCm39) L408P probably damaging Het
Mmrn1 A T 6: 60,954,131 (GRCm39) N804I possibly damaging Het
Mroh7 A G 4: 106,564,979 (GRCm39) L545S probably damaging Het
Nup188 T A 2: 30,213,648 (GRCm39) probably null Het
Or10q1 A G 19: 13,727,298 (GRCm39) D276G probably benign Het
Or11a4 A G 17: 37,536,217 (GRCm39) N67S probably damaging Het
Or5b94 T C 19: 12,651,602 (GRCm39) I11T probably damaging Het
Pls1 A T 9: 95,666,236 (GRCm39) N138K probably benign Het
Prkch C A 12: 73,749,286 (GRCm39) N345K probably benign Het
Reps1 T C 10: 17,931,865 (GRCm39) probably null Het
Rrp7a T C 15: 83,006,892 (GRCm39) E15G probably benign Het
Scart2 A T 7: 139,876,453 (GRCm39) N526Y probably damaging Het
Scn1a T A 2: 66,108,005 (GRCm39) T1557S possibly damaging Het
Smtn T C 11: 3,476,215 (GRCm39) E602G probably damaging Het
Syvn1 T C 19: 6,100,123 (GRCm39) probably null Het
Tbxas1 A G 6: 39,000,014 (GRCm39) D267G probably damaging Het
Topbp1 A G 9: 103,205,722 (GRCm39) N787D probably damaging Het
Vmn2r22 T G 6: 123,615,051 (GRCm39) S180R probably damaging Het
Zfp345 T A 2: 150,316,463 (GRCm39) E48D possibly damaging Het
Zfp608 G A 18: 55,030,509 (GRCm39) Q1144* probably null Het
Zfp936 T A 7: 42,836,691 (GRCm39) L34Q probably damaging Het
Other mutations in Gdap1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02119:Gdap1l1 APN 2 163,295,588 (GRCm39) missense probably damaging 1.00
IGL02171:Gdap1l1 APN 2 163,289,470 (GRCm39) missense possibly damaging 0.78
F5770:Gdap1l1 UTSW 2 163,289,406 (GRCm39) intron probably benign
R0091:Gdap1l1 UTSW 2 163,288,011 (GRCm39) missense probably damaging 1.00
R0165:Gdap1l1 UTSW 2 163,293,419 (GRCm39) critical splice acceptor site probably null
R0242:Gdap1l1 UTSW 2 163,289,573 (GRCm39) nonsense probably null
R1577:Gdap1l1 UTSW 2 163,280,524 (GRCm39) missense probably damaging 0.96
R2022:Gdap1l1 UTSW 2 163,289,517 (GRCm39) missense probably benign 0.04
R4960:Gdap1l1 UTSW 2 163,295,779 (GRCm39) missense probably benign 0.00
R6027:Gdap1l1 UTSW 2 163,293,531 (GRCm39) missense possibly damaging 0.57
R6292:Gdap1l1 UTSW 2 163,293,427 (GRCm39) missense probably damaging 1.00
R6678:Gdap1l1 UTSW 2 163,280,574 (GRCm39) missense probably benign
R7034:Gdap1l1 UTSW 2 163,288,065 (GRCm39) missense probably damaging 1.00
R7173:Gdap1l1 UTSW 2 163,280,608 (GRCm39) missense probably damaging 0.99
R7195:Gdap1l1 UTSW 2 163,288,050 (GRCm39) missense probably damaging 1.00
R9085:Gdap1l1 UTSW 2 163,280,508 (GRCm39) missense probably damaging 0.99
R9331:Gdap1l1 UTSW 2 163,295,664 (GRCm39) missense probably benign 0.00
Z1176:Gdap1l1 UTSW 2 163,289,590 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16