Incidental Mutation 'IGL01152:Large2'
| ID |
50655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Large2
|
| Ensembl Gene |
ENSMUSG00000040434 |
| Gene Name |
LARGE xylosyl- and glucuronyltransferase 2 |
| Synonyms |
5730485C17Rik, Gyltl1b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92195391-92201437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92200984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 64
(L64P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028650]
[ENSMUST00000068586]
[ENSMUST00000090582]
[ENSMUST00000111284]
[ENSMUST00000176810]
[ENSMUST00000176774]
[ENSMUST00000176289]
[ENSMUST00000148352]
[ENSMUST00000176339]
|
| AlphaFold |
Q5XPT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028650
|
| SMART Domains |
Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pex16
|
9 |
329 |
1.3e-91 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068586
AA Change: L42P
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434
AA Change: L42P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
70 |
316 |
4.6e-22 |
PFAM |
|
low complexity region
|
392 |
401 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_49
|
402 |
469 |
2.2e-11 |
PFAM |
|
Pfam:Glyco_transf_49
|
466 |
673 |
1e-42 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090582
AA Change: L42P
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434
AA Change: L42P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
70 |
218 |
7.2e-9 |
PFAM |
|
Pfam:Glyco_transf_8
|
188 |
281 |
2.3e-8 |
PFAM |
|
low complexity region
|
357 |
366 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_49
|
367 |
434 |
2.1e-11 |
PFAM |
|
Pfam:Glyco_transf_49
|
431 |
638 |
9.3e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111284
AA Change: L67P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434
AA Change: L67P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
88 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
97 |
341 |
8.9e-22 |
PFAM |
|
low complexity region
|
417 |
426 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_49
|
427 |
494 |
6.5e-11 |
PFAM |
|
Pfam:Glyco_transf_49
|
491 |
698 |
3.1e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146311
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176810
AA Change: L67P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434
AA Change: L67P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
88 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
101 |
342 |
4.2e-20 |
PFAM |
|
low complexity region
|
417 |
426 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_49
|
427 |
493 |
1.3e-13 |
PFAM |
|
Pfam:Glyco_transf_49
|
489 |
698 |
2.8e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176774
AA Change: L42P
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434
AA Change: L42P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
71 |
317 |
3.9e-22 |
PFAM |
|
low complexity region
|
393 |
402 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_49
|
403 |
470 |
1.6e-11 |
PFAM |
|
Pfam:Glyco_transf_49
|
467 |
674 |
7.4e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176289
AA Change: L42P
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135118
Gene: ENSMUSG00000040434
AA Change: L42P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148352
AA Change: L42P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434
AA Change: L42P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176339
AA Change: L64P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434
AA Change: L64P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175851
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Null mutant mice are healthy and are indistinguishable from control littermates with respect to body weight and life span when aged up to one year. No increased spontaneous tumor load was observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
G |
1: 192,515,947 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
G |
A |
5: 9,000,678 (GRCm39) |
V1031M |
probably benign |
Het |
| Abcc4 |
A |
G |
14: 118,836,797 (GRCm39) |
S655P |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,245,820 (GRCm39) |
K121R |
probably damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,358,750 (GRCm39) |
R82* |
probably null |
Het |
| Arhgap31 |
T |
A |
16: 38,422,601 (GRCm39) |
H1155L |
possibly damaging |
Het |
| Atp8a1 |
G |
T |
5: 68,004,549 (GRCm39) |
P2Q |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,631,174 (GRCm39) |
M401V |
possibly damaging |
Het |
| Brca2 |
A |
T |
5: 150,465,855 (GRCm39) |
N1873I |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,789,757 (GRCm39) |
N764S |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Clk1 |
A |
T |
1: 58,452,611 (GRCm39) |
C359S |
possibly damaging |
Het |
| Clk2 |
T |
A |
3: 89,083,818 (GRCm39) |
F479I |
probably damaging |
Het |
| Cul4b |
T |
C |
X: 37,632,247 (GRCm39) |
M709V |
probably damaging |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,620 (GRCm39) |
|
probably null |
Het |
| Dgkb |
T |
A |
12: 38,134,233 (GRCm39) |
N46K |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,962,882 (GRCm39) |
R1811H |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,926 (GRCm39) |
N281S |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,915,405 (GRCm39) |
I654L |
probably benign |
Het |
| Gm9989 |
T |
G |
3: 81,829,518 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,228,237 (GRCm39) |
E1306G |
probably benign |
Het |
| Gsc |
C |
A |
12: 104,437,864 (GRCm39) |
K219N |
probably damaging |
Het |
| Gsx2 |
A |
T |
5: 75,236,452 (GRCm39) |
I11F |
probably damaging |
Het |
| Igdcc4 |
A |
C |
9: 65,042,446 (GRCm39) |
E121A |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,084,425 (GRCm39) |
R915H |
probably benign |
Het |
| Lztr1 |
C |
A |
16: 17,340,317 (GRCm39) |
Q136K |
probably damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,430 (GRCm39) |
W271R |
possibly damaging |
Het |
| Magoh |
A |
C |
4: 107,742,203 (GRCm39) |
|
probably benign |
Het |
| Matcap2 |
A |
T |
9: 22,346,460 (GRCm39) |
H356L |
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,234 (GRCm39) |
H171R |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,138,061 (GRCm39) |
T301K |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,410,959 (GRCm39) |
L868F |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,963,872 (GRCm39) |
D1152G |
possibly damaging |
Het |
| Or5p68 |
C |
T |
7: 107,946,156 (GRCm39) |
A11T |
probably benign |
Het |
| Or7d10 |
G |
A |
9: 19,832,245 (GRCm39) |
V247M |
possibly damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,893,488 (GRCm39) |
D420E |
possibly damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,094,121 (GRCm39) |
D350G |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,574,976 (GRCm39) |
N309Y |
probably damaging |
Het |
| Pim2 |
C |
A |
X: 7,744,661 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 134,655,579 (GRCm39) |
Y53C |
probably damaging |
Het |
| Pogk |
T |
C |
1: 166,236,047 (GRCm39) |
E18G |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,051,936 (GRCm39) |
D704E |
probably damaging |
Het |
| Rb1 |
C |
A |
14: 73,443,310 (GRCm39) |
S781I |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,621 (GRCm39) |
H247R |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,497,771 (GRCm39) |
F697I |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,273,675 (GRCm39) |
H1064N |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,478,831 (GRCm39) |
Y99H |
probably damaging |
Het |
| Slc36a2 |
T |
A |
11: 55,060,673 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
A |
C |
9: 109,968,693 (GRCm39) |
E130A |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,201,276 (GRCm39) |
M1273T |
probably benign |
Het |
| Tmem116 |
A |
G |
5: 121,601,862 (GRCm39) |
I21V |
probably benign |
Het |
| Tmem190 |
T |
C |
7: 4,787,025 (GRCm39) |
|
probably benign |
Het |
| Trim63 |
C |
T |
4: 134,052,987 (GRCm39) |
A316V |
probably benign |
Het |
| Ugt2b34 |
T |
C |
5: 87,049,062 (GRCm39) |
E321G |
probably damaging |
Het |
| Zfat |
T |
A |
15: 67,982,353 (GRCm39) |
R1053S |
probably damaging |
Het |
|
| Other mutations in Large2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Large2
|
APN |
2 |
92,196,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01377:Large2
|
APN |
2 |
92,199,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01764:Large2
|
APN |
2 |
92,197,531 (GRCm39) |
splice site |
probably benign |
|
|
IGL02016:Large2
|
APN |
2 |
92,199,888 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02396:Large2
|
APN |
2 |
92,196,668 (GRCm39) |
nonsense |
probably null |
|
|
IGL02996:Large2
|
APN |
2 |
92,196,273 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03011:Large2
|
APN |
2 |
92,197,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
egged
|
UTSW |
2 |
92,200,853 (GRCm39) |
intron |
probably benign |
|
|
P0041:Large2
|
UTSW |
2 |
92,197,599 (GRCm39) |
splice site |
probably benign |
|
|
R1915:Large2
|
UTSW |
2 |
92,196,170 (GRCm39) |
splice site |
probably benign |
|
|
R4193:Large2
|
UTSW |
2 |
92,195,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Large2
|
UTSW |
2 |
92,196,950 (GRCm39) |
splice site |
probably benign |
|
|
R4580:Large2
|
UTSW |
2 |
92,200,957 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4679:Large2
|
UTSW |
2 |
92,197,903 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4857:Large2
|
UTSW |
2 |
92,196,979 (GRCm39) |
intron |
probably benign |
|
|
R4918:Large2
|
UTSW |
2 |
92,196,452 (GRCm39) |
intron |
probably benign |
|
|
R5050:Large2
|
UTSW |
2 |
92,198,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5237:Large2
|
UTSW |
2 |
92,197,487 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5264:Large2
|
UTSW |
2 |
92,205,088 (GRCm39) |
unclassified |
probably benign |
|
|
R5508:Large2
|
UTSW |
2 |
92,200,248 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5999:Large2
|
UTSW |
2 |
92,196,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6077:Large2
|
UTSW |
2 |
92,196,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6167:Large2
|
UTSW |
2 |
92,197,433 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6218:Large2
|
UTSW |
2 |
92,200,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6225:Large2
|
UTSW |
2 |
92,196,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6301:Large2
|
UTSW |
2 |
92,199,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Large2
|
UTSW |
2 |
92,200,853 (GRCm39) |
intron |
probably benign |
|
|
R6485:Large2
|
UTSW |
2 |
92,196,373 (GRCm39) |
missense |
probably benign |
|
|
R6727:Large2
|
UTSW |
2 |
92,201,215 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6942:Large2
|
UTSW |
2 |
92,201,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7051:Large2
|
UTSW |
2 |
92,197,367 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7318:Large2
|
UTSW |
2 |
92,196,373 (GRCm39) |
missense |
probably benign |
|
|
R7581:Large2
|
UTSW |
2 |
92,200,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Large2
|
UTSW |
2 |
92,205,050 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9522:Large2
|
UTSW |
2 |
92,200,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Large2
|
UTSW |
2 |
92,200,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation