Incidental Mutation 'R7195:Gdap1l1'
ID 559836
Institutional Source Beutler Lab
Gene Symbol Gdap1l1
Ensembl Gene ENSMUSG00000017943
Gene Name ganglioside-induced differentiation-associated protein 1-like 1
Synonyms
MMRRC Submission 045336-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R7195 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 163280396-163297244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 163288050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 96 (N96Y)
Ref Sequence ENSEMBL: ENSMUSP00000105048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018087] [ENSMUST00000109420] [ENSMUST00000109421] [ENSMUST00000137070]
AlphaFold Q8VE33
Predicted Effect probably damaging
Transcript: ENSMUST00000018087
AA Change: N93Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018087
Gene: ENSMUSG00000017943
AA Change: N93Y

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 damaging
Transcript: ENSMUST00000109420
AA Change: N93Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105047
Gene: ENSMUSG00000017943
AA Change: N93Y

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 damaging
Transcript: ENSMUST00000109421
AA Change: N96Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105048
Gene: ENSMUSG00000017943
AA Change: N96Y

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 damaging
Transcript: ENSMUST00000137070
AA Change: N93Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119421
Gene: ENSMUSG00000017943
AA Change: N93Y

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T C 11: 58,179,242 (GRCm39) probably null Het
Abca2 A G 2: 25,332,088 (GRCm39) D1400G probably benign Het
Actl11 A T 9: 107,806,069 (GRCm39) K131* probably null Het
Adam39 A T 8: 41,277,812 (GRCm39) R68* probably null Het
Akap7 A T 10: 25,147,405 (GRCm39) N108K probably damaging Het
Arhgef10l C A 4: 140,338,721 (GRCm39) A14S probably benign Het
Ccdc141 T G 2: 76,879,927 (GRCm39) N632T probably benign Het
Ccm2 T C 11: 6,546,302 (GRCm39) S435P probably damaging Het
Cd36 A G 5: 18,019,187 (GRCm39) L178P probably damaging Het
Cd7 T C 11: 120,929,075 (GRCm39) I59V probably benign Het
Cds2 T A 2: 132,135,204 (GRCm39) S32T probably benign Het
Cep19 A G 16: 31,925,904 (GRCm39) D104G probably damaging Het
Col1a2 C T 6: 4,510,753 (GRCm39) P68S unknown Het
Col20a1 A G 2: 180,649,024 (GRCm39) H1011R probably damaging Het
Cspg4b A T 13: 113,504,463 (GRCm39) D1864V Het
D7Ertd443e A G 7: 133,896,851 (GRCm39) V513A probably damaging Het
Egfr C T 11: 16,818,162 (GRCm39) P228L probably damaging Het
Fam243 C T 16: 92,118,037 (GRCm39) V84M probably damaging Het
Fam78b A G 1: 166,906,131 (GRCm39) R97G probably damaging Het
Flt1 C T 5: 147,540,386 (GRCm39) V768M probably damaging Het
Gm7168 T A 17: 14,169,622 (GRCm39) Y330N probably benign Het
Hnrnpul1 T C 7: 25,424,203 (GRCm39) N683S unknown Het
Ice2 C T 9: 69,335,782 (GRCm39) P922S possibly damaging Het
Iglv2 A G 16: 19,079,260 (GRCm39) V81A not run Het
Irs1 A G 1: 82,265,177 (GRCm39) I1013T probably benign Het
Itih4 T C 14: 30,621,432 (GRCm39) S832P probably damaging Het
Klhl1 A T 14: 96,517,513 (GRCm39) Y388N probably benign Het
Lrrc37a G A 11: 103,348,601 (GRCm39) S2698L unknown Het
Map4k4 T C 1: 40,058,829 (GRCm39) Y1008H possibly damaging Het
Mdn1 G T 4: 32,701,823 (GRCm39) G1519W probably damaging Het
Mga T A 2: 119,747,809 (GRCm39) D653E probably damaging Het
Npas1 T C 7: 16,208,733 (GRCm39) E48G probably damaging Het
Nup188 G A 2: 30,231,842 (GRCm39) probably null Het
Or1p1b G T 11: 74,130,394 (GRCm39) M1I probably null Het
Or3a4 T A 11: 73,945,223 (GRCm39) M121L probably damaging Het
Or4c110 G A 2: 88,832,075 (GRCm39) L186F Het
Or51a39 A G 7: 102,362,873 (GRCm39) V249A possibly damaging Het
Or55b4 A T 7: 102,133,574 (GRCm39) V251D probably damaging Het
Or7h8 A G 9: 20,123,840 (GRCm39) N65S probably damaging Het
Oxct1 T C 15: 4,158,383 (GRCm39) V439A probably damaging Het
Pcdhb22 G T 18: 37,652,341 (GRCm39) G13W probably damaging Het
Pex11g A G 8: 3,509,237 (GRCm39) V230A probably benign Het
Pop1 C T 15: 34,510,525 (GRCm39) S439L probably damaging Het
Ptpn9 T A 9: 56,929,533 (GRCm39) H83Q probably benign Het
Qrfp C T 2: 31,698,704 (GRCm39) R76H probably benign Het
Slc30a3 A G 5: 31,246,139 (GRCm39) V197A probably benign Het
Slc8a3 T C 12: 81,361,047 (GRCm39) N591D possibly damaging Het
Sp4 G T 12: 118,263,807 (GRCm39) Q80K possibly damaging Het
Spock1 C T 13: 58,055,316 (GRCm39) G29D possibly damaging Het
Sprr1a G T 3: 92,391,674 (GRCm39) P109Q probably damaging Het
Suz12 T A 11: 79,904,309 (GRCm39) F239L probably damaging Het
Tbx3 A G 5: 119,813,648 (GRCm39) Y248C probably damaging Het
Trabd2b T C 4: 114,266,637 (GRCm39) L217P probably damaging Het
Ubxn11 A C 4: 133,853,726 (GRCm39) I398L possibly damaging Het
Vmn1r173 T A 7: 23,401,884 (GRCm39) S40T probably damaging Het
Vmn2r2 T C 3: 64,023,900 (GRCm39) S894G probably benign Het
Vmn2r65 A G 7: 84,592,347 (GRCm39) probably null Het
Vps13c G A 9: 67,853,107 (GRCm39) G2400D possibly damaging Het
Vps8 T C 16: 21,275,032 (GRCm39) Y197H probably damaging Het
Wdr91 T C 6: 34,866,209 (GRCm39) N486D possibly damaging Het
Wwp1 A G 4: 19,627,908 (GRCm39) I695T possibly damaging Het
Zc3hc1 T C 6: 30,382,547 (GRCm39) D133G probably benign Het
Zcchc14 T C 8: 122,335,200 (GRCm39) I307V unknown Het
Zfp933 G A 4: 147,910,636 (GRCm39) T320I probably benign 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
IGL02335:Gdap1l1 APN 2 163,289,515 (GRCm39) missense possibly damaging 0.50
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
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
Predicted Primers PCR Primer
(F):5'- CCCTCAAGTGCCCAAGAATG -3'
(R):5'- AACACTGAGTCCTGCCCATG -3'

Sequencing Primer
(F):5'- AAGCAAGTGTCCCCTCTTGTG -3'
(R):5'- AGTCCTGCCCATGGGTCAATG -3'
Posted On 2019-06-26