Incidental Mutation 'R7722:Gnptab'
| ID |
595288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnptab
|
| Ensembl Gene |
ENSMUSG00000035311 |
| Gene Name |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits |
| Synonyms |
EG432486 |
| MMRRC Submission |
045778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
R7722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88214996-88283186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88215390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 37
(F37S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020251]
[ENSMUST00000127615]
[ENSMUST00000130301]
[ENSMUST00000138159]
[ENSMUST00000151273]
|
| AlphaFold |
Q69ZN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020251
AA Change: F37S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: F37S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Stealth_CR1
|
73 |
101 |
6.6e-14 |
PFAM |
|
Pfam:Stealth_CR2
|
322 |
429 |
8.8e-49 |
PFAM |
|
NL
|
431 |
469 |
3.82e-7 |
SMART |
|
low complexity region
|
480 |
490 |
N/A |
INTRINSIC |
|
NL
|
498 |
536 |
2.37e-2 |
SMART |
|
DMAP_binding
|
699 |
813 |
6.14e-38 |
SMART |
|
Pfam:Stealth_CR3
|
934 |
982 |
2.9e-21 |
PFAM |
|
Pfam:Stealth_CR4
|
1117 |
1173 |
7.9e-28 |
PFAM |
|
transmembrane domain
|
1192 |
1214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127615
AA Change: F21S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116915
Gene: ENSMUSG00000035311
AA Change: F21S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
coiled coil region
|
71 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130301
AA Change: F27S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120643
Gene: ENSMUSG00000035311
AA Change: F27S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
coiled coil region
|
77 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138159
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151273
AA Change: F37S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118025
Gene: ENSMUSG00000035311
AA Change: F37S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6620 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutations cause stunted growth, high lysosomal enzyme levels, skeletal defects, retinal degeneration and secretory cell lesions. Homozygotes for an ENU allele show skeletal and facial defects, altered enzymatic activities, lysosomal storage, Purkinje cell loss, ataxia and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,029,231 (GRCm39) |
E151G |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,228 (GRCm39) |
L260H |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,642,458 (GRCm39) |
V247A |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,822,951 (GRCm39) |
I431L |
probably benign |
Het |
| Ano7 |
G |
A |
1: 93,318,145 (GRCm39) |
A286T |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,780,041 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,613,762 (GRCm39) |
S378T |
probably damaging |
Het |
| Clrn1 |
T |
A |
3: 58,753,755 (GRCm39) |
N202I |
possibly damaging |
Het |
| Cspp1 |
T |
C |
1: 10,145,126 (GRCm39) |
V308A |
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,536,543 (GRCm39) |
L174P |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fancm |
T |
A |
12: 65,153,235 (GRCm39) |
D1230E |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,663,823 (GRCm39) |
N555K |
probably damaging |
Het |
| Fmnl2 |
A |
C |
2: 52,944,479 (GRCm39) |
S153R |
|
Het |
| Fras1 |
G |
A |
5: 96,917,413 (GRCm39) |
V3478M |
probably damaging |
Het |
| Gpr183 |
T |
G |
14: 122,192,270 (GRCm39) |
I84L |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,039,314 (GRCm39) |
H410R |
unknown |
Het |
| Hmcn1 |
A |
G |
1: 150,543,631 (GRCm39) |
V2848A |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,272,512 (GRCm39) |
R1331* |
probably null |
Het |
| Hsd17b4 |
A |
C |
18: 50,279,591 (GRCm39) |
N190T |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,396,033 (GRCm39) |
D113G |
probably benign |
Het |
| Kmt2e |
T |
G |
5: 23,702,016 (GRCm39) |
D881E |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,373,570 (GRCm39) |
L1481Q |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,306,092 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
T |
A |
6: 38,580,243 (GRCm39) |
S281T |
unknown |
Het |
| Map3k5 |
A |
G |
10: 20,007,891 (GRCm39) |
D1240G |
probably benign |
Het |
| Med13l |
C |
A |
5: 118,885,472 (GRCm39) |
T1475K |
probably benign |
Het |
| Med17 |
G |
T |
9: 15,182,987 (GRCm39) |
Q353K |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,314,266 (GRCm39) |
V640A |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,517,201 (GRCm39) |
Y361N |
probably damaging |
Het |
| Mtmr2 |
T |
A |
9: 13,716,104 (GRCm39) |
N532K |
probably benign |
Het |
| Mtss1 |
G |
A |
15: 58,926,935 (GRCm39) |
T47I |
probably damaging |
Het |
| Mturn |
T |
C |
6: 54,676,545 (GRCm39) |
|
probably null |
Het |
| Muc20 |
A |
C |
16: 32,617,756 (GRCm39) |
S3A |
probably benign |
Het |
| Nde1 |
T |
C |
16: 14,008,128 (GRCm39) |
Y164H |
unknown |
Het |
| Neurl1b |
A |
G |
17: 26,660,132 (GRCm39) |
T451A |
probably benign |
Het |
| Or52u1 |
C |
A |
7: 104,237,505 (GRCm39) |
Q165K |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,885 (GRCm39) |
Y278* |
probably null |
Het |
| Pgap3 |
G |
A |
11: 98,281,610 (GRCm39) |
A196V |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scart1 |
C |
A |
7: 139,802,299 (GRCm39) |
C209* |
probably null |
Het |
| Sdcbp |
T |
A |
4: 6,385,063 (GRCm39) |
V94E |
possibly damaging |
Het |
| Sgo2a |
T |
G |
1: 58,055,696 (GRCm39) |
F627V |
probably benign |
Het |
| Skor2 |
A |
C |
18: 76,950,339 (GRCm39) |
N889T |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,543,731 (GRCm39) |
N288K |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,035,596 (GRCm39) |
V355E |
probably null |
Het |
| Smarcc2 |
A |
G |
10: 128,317,597 (GRCm39) |
E566G |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,200,871 (GRCm39) |
E559G |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,256,642 (GRCm39) |
D369G |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,269,729 (GRCm39) |
I103N |
possibly damaging |
Het |
| Stx8 |
T |
C |
11: 68,094,544 (GRCm39) |
V219A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,727,192 (GRCm39) |
L596Q |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,849,527 (GRCm39) |
Y571H |
probably benign |
Het |
| Zbtb40 |
A |
G |
4: 136,718,829 (GRCm39) |
I956T |
probably damaging |
Het |
| Zfp990 |
A |
C |
4: 145,263,532 (GRCm39) |
N177H |
possibly damaging |
Het |
|
| Other mutations in Gnptab |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01326:Gnptab
|
APN |
10 |
88,268,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01346:Gnptab
|
APN |
10 |
88,272,041 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01626:Gnptab
|
APN |
10 |
88,273,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01642:Gnptab
|
APN |
10 |
88,271,994 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02121:Gnptab
|
APN |
10 |
88,265,323 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03076:Gnptab
|
APN |
10 |
88,276,151 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03130:Gnptab
|
APN |
10 |
88,272,233 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
maze
|
UTSW |
10 |
88,268,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Gnptab
|
UTSW |
10 |
88,265,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Gnptab
|
UTSW |
10 |
88,265,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Gnptab
|
UTSW |
10 |
88,269,262 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0206:Gnptab
|
UTSW |
10 |
88,275,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0288:Gnptab
|
UTSW |
10 |
88,268,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0329:Gnptab
|
UTSW |
10 |
88,276,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Gnptab
|
UTSW |
10 |
88,276,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Gnptab
|
UTSW |
10 |
88,269,456 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0385:Gnptab
|
UTSW |
10 |
88,272,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Gnptab
|
UTSW |
10 |
88,267,328 (GRCm39) |
splice site |
probably benign |
|
|
R0569:Gnptab
|
UTSW |
10 |
88,264,419 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0671:Gnptab
|
UTSW |
10 |
88,279,166 (GRCm39) |
splice site |
probably benign |
|
|
R0834:Gnptab
|
UTSW |
10 |
88,265,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1375:Gnptab
|
UTSW |
10 |
88,268,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Gnptab
|
UTSW |
10 |
88,269,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Gnptab
|
UTSW |
10 |
88,281,616 (GRCm39) |
splice site |
probably benign |
|
|
R1471:Gnptab
|
UTSW |
10 |
88,281,625 (GRCm39) |
missense |
probably benign |
|
|
R1570:Gnptab
|
UTSW |
10 |
88,255,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1612:Gnptab
|
UTSW |
10 |
88,264,344 (GRCm39) |
splice site |
probably null |
|
|
R1614:Gnptab
|
UTSW |
10 |
88,250,451 (GRCm39) |
missense |
probably benign |
|
|
R1638:Gnptab
|
UTSW |
10 |
88,272,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1739:Gnptab
|
UTSW |
10 |
88,271,957 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1894:Gnptab
|
UTSW |
10 |
88,254,989 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2092:Gnptab
|
UTSW |
10 |
88,276,167 (GRCm39) |
nonsense |
probably null |
|
|
R2118:Gnptab
|
UTSW |
10 |
88,272,260 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2144:Gnptab
|
UTSW |
10 |
88,264,368 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2174:Gnptab
|
UTSW |
10 |
88,269,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Gnptab
|
UTSW |
10 |
88,269,439 (GRCm39) |
nonsense |
probably null |
|
|
R3943:Gnptab
|
UTSW |
10 |
88,269,756 (GRCm39) |
missense |
probably benign |
|
|
R4434:Gnptab
|
UTSW |
10 |
88,248,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4545:Gnptab
|
UTSW |
10 |
88,250,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4776:Gnptab
|
UTSW |
10 |
88,272,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Gnptab
|
UTSW |
10 |
88,272,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Gnptab
|
UTSW |
10 |
88,268,413 (GRCm39) |
nonsense |
probably null |
|
|
R4889:Gnptab
|
UTSW |
10 |
88,269,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4923:Gnptab
|
UTSW |
10 |
88,265,485 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5694:Gnptab
|
UTSW |
10 |
88,250,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5943:Gnptab
|
UTSW |
10 |
88,269,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6027:Gnptab
|
UTSW |
10 |
88,269,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6074:Gnptab
|
UTSW |
10 |
88,268,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Gnptab
|
UTSW |
10 |
88,267,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Gnptab
|
UTSW |
10 |
88,265,342 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6757:Gnptab
|
UTSW |
10 |
88,273,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6910:Gnptab
|
UTSW |
10 |
88,267,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Gnptab
|
UTSW |
10 |
88,267,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Gnptab
|
UTSW |
10 |
88,215,366 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7101:Gnptab
|
UTSW |
10 |
88,276,174 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7164:Gnptab
|
UTSW |
10 |
88,269,932 (GRCm39) |
nonsense |
probably null |
|
|
R7214:Gnptab
|
UTSW |
10 |
88,215,019 (GRCm39) |
unclassified |
probably benign |
|
|
R7316:Gnptab
|
UTSW |
10 |
88,236,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Gnptab
|
UTSW |
10 |
88,267,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Gnptab
|
UTSW |
10 |
88,279,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7654:Gnptab
|
UTSW |
10 |
88,281,681 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7770:Gnptab
|
UTSW |
10 |
88,247,782 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7791:Gnptab
|
UTSW |
10 |
88,276,084 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7838:Gnptab
|
UTSW |
10 |
88,276,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8002:Gnptab
|
UTSW |
10 |
88,276,130 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8168:Gnptab
|
UTSW |
10 |
88,254,995 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8219:Gnptab
|
UTSW |
10 |
88,269,654 (GRCm39) |
missense |
probably benign |
|
|
R8221:Gnptab
|
UTSW |
10 |
88,276,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8313:Gnptab
|
UTSW |
10 |
88,275,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Gnptab
|
UTSW |
10 |
88,250,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8487:Gnptab
|
UTSW |
10 |
88,268,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9108:Gnptab
|
UTSW |
10 |
88,269,400 (GRCm39) |
missense |
|
|
|
R9352:Gnptab
|
UTSW |
10 |
88,268,350 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9489:Gnptab
|
UTSW |
10 |
88,268,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Gnptab
|
UTSW |
10 |
88,247,876 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9760:Gnptab
|
UTSW |
10 |
88,267,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9771:Gnptab
|
UTSW |
10 |
88,268,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Gnptab
|
UTSW |
10 |
88,272,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Gnptab
|
UTSW |
10 |
88,247,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Gnptab
|
UTSW |
10 |
88,267,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gnptab
|
UTSW |
10 |
88,276,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCAGGATTGCCCATTGG -3'
(R):5'- ATCCATGCGCACGCTGAAG -3'
Sequencing Primer
(F):5'- GCGACAATGTGCGGCAG -3'
(R):5'- ACGTCCAGTCCAGCTGCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation