Incidental Mutation 'IGL02016:Large2'
| ID |
183767 |
| 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 # |
IGL02016
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92195391-92201437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92199888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 175
(V175A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044036]
[ENSMUST00000068586]
[ENSMUST00000068702]
[ENSMUST00000090582]
[ENSMUST00000090586]
[ENSMUST00000111284]
[ENSMUST00000111290]
[ENSMUST00000176810]
[ENSMUST00000176774]
[ENSMUST00000176289]
[ENSMUST00000148352]
[ENSMUST00000111297]
[ENSMUST00000176339]
|
| AlphaFold |
Q5XPT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044036
|
| SMART Domains |
Protein: ENSMUSP00000038497
Gene: ENSMUSG00000058318
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
186 |
N/A |
INTRINSIC |
|
AT_hook
|
350 |
362 |
4.28e-1 |
SMART |
|
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
|
PHD
|
415 |
458 |
3.12e-15 |
SMART |
|
RING
|
416 |
457 |
1.85e-1 |
SMART |
|
coiled coil region
|
482 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068586
AA Change: V175A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434
AA Change: V175A
| 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 |
probably benign
Transcript: ENSMUST00000068702
|
| SMART Domains |
Protein: ENSMUSP00000070649
Gene: ENSMUSG00000058318
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
185 |
N/A |
INTRINSIC |
|
PHD
|
367 |
410 |
3.12e-15 |
SMART |
|
RING
|
368 |
409 |
1.85e-1 |
SMART |
|
coiled coil region
|
434 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
547 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090582
AA Change: V175A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434
AA Change: V175A
| 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 |
probably benign
Transcript: ENSMUST00000090586
|
| SMART Domains |
Protein: ENSMUSP00000088074
Gene: ENSMUSG00000058318
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
270 |
N/A |
INTRINSIC |
|
AT_hook
|
434 |
446 |
4.28e-1 |
SMART |
|
low complexity region
|
453 |
465 |
N/A |
INTRINSIC |
|
PHD
|
499 |
542 |
3.12e-15 |
SMART |
|
RING
|
500 |
541 |
1.85e-1 |
SMART |
|
coiled coil region
|
566 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111284
AA Change: V200A
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434
AA Change: V200A
| 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 |
probably benign
Transcript: ENSMUST00000111290
|
| SMART Domains |
Protein: ENSMUSP00000106921
Gene: ENSMUSG00000058318
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
270 |
N/A |
INTRINSIC |
|
AT_hook
|
405 |
417 |
4.28e-1 |
SMART |
|
low complexity region
|
424 |
436 |
N/A |
INTRINSIC |
|
PHD
|
470 |
513 |
3.12e-15 |
SMART |
|
RING
|
471 |
512 |
1.85e-1 |
SMART |
|
coiled coil region
|
537 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176810
AA Change: V200A
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434
AA Change: V200A
| 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: V176A
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434
AA Change: V176A
| 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 |
noncoding transcript
Transcript: ENSMUST00000130283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176289
|
| SMART Domains |
Protein: ENSMUSP00000135118
Gene: ENSMUSG00000040434
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148352
|
| SMART Domains |
Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111297
|
| SMART Domains |
Protein: ENSMUSP00000106928
Gene: ENSMUSG00000058318
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
269 |
N/A |
INTRINSIC |
|
PHD
|
422 |
465 |
3.12e-15 |
SMART |
|
RING
|
423 |
464 |
1.85e-1 |
SMART |
|
coiled coil region
|
489 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
602 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176339
|
| SMART Domains |
Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434
| 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: ENSMUST00000177273
|
| 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 |
|---|
| 1810024B03Rik |
C |
A |
2: 127,028,875 (GRCm39) |
G108V |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,535,298 (GRCm39) |
E804G |
probably damaging |
Het |
| Abcg4 |
G |
A |
9: 44,198,647 (GRCm39) |
T35M |
probably damaging |
Het |
| Acad9 |
A |
T |
3: 36,142,635 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,545,572 (GRCm39) |
D5571G |
probably damaging |
Het |
| App |
T |
A |
16: 84,853,409 (GRCm39) |
D223V |
unknown |
Het |
| Arhgap30 |
A |
G |
1: 171,235,315 (GRCm39) |
E563G |
probably damaging |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,822 (GRCm39) |
V192D |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,809,228 (GRCm39) |
V1969I |
probably benign |
Het |
| Bean1 |
T |
C |
8: 104,937,550 (GRCm39) |
L43S |
possibly damaging |
Het |
| Cand1 |
A |
G |
10: 119,048,473 (GRCm39) |
V436A |
probably damaging |
Het |
| Card6 |
T |
C |
15: 5,137,738 (GRCm39) |
I39V |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,805,961 (GRCm39) |
T300A |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,907,466 (GRCm39) |
T962A |
possibly damaging |
Het |
| Chd6 |
G |
T |
2: 160,825,598 (GRCm39) |
L1169I |
probably damaging |
Het |
| Chrna7 |
A |
T |
7: 62,753,583 (GRCm39) |
V312E |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,796,191 (GRCm39) |
N540S |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,172 (GRCm39) |
E209G |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,136,932 (GRCm39) |
|
probably null |
Het |
| Fto |
A |
T |
8: 92,393,034 (GRCm39) |
R494* |
probably null |
Het |
| Garre1 |
A |
G |
7: 33,938,526 (GRCm39) |
M791T |
possibly damaging |
Het |
| Gm9966 |
A |
T |
7: 95,608,014 (GRCm39) |
T112S |
unknown |
Het |
| Gtf3c1 |
A |
C |
7: 125,267,211 (GRCm39) |
I940S |
probably damaging |
Het |
| Hecw2 |
C |
A |
1: 53,870,702 (GRCm39) |
Q1426H |
possibly damaging |
Het |
| Iars2 |
A |
C |
1: 185,035,503 (GRCm39) |
L579R |
probably damaging |
Het |
| Ifih1 |
A |
C |
2: 62,437,328 (GRCm39) |
M537R |
probably benign |
Het |
| Kcnmb4 |
A |
G |
10: 116,282,367 (GRCm39) |
|
probably benign |
Het |
| Mad2l1bp |
A |
G |
17: 46,464,428 (GRCm39) |
|
probably benign |
Het |
| Muc20 |
A |
T |
16: 32,617,722 (GRCm39) |
F14Y |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,175,195 (GRCm39) |
E1258G |
probably benign |
Het |
| Or8k28 |
A |
T |
2: 86,285,841 (GRCm39) |
M258K |
probably damaging |
Het |
| Parp1 |
A |
T |
1: 180,426,516 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
T |
A |
4: 143,381,889 (GRCm39) |
E269V |
possibly damaging |
Het |
| Prkra |
A |
T |
2: 76,473,653 (GRCm39) |
|
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scd1 |
C |
T |
19: 44,388,746 (GRCm39) |
G235S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,020,184 (GRCm39) |
H654R |
possibly damaging |
Het |
| Sesn3 |
A |
G |
9: 14,231,633 (GRCm39) |
Y188C |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,585,666 (GRCm39) |
M461V |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,285,822 (GRCm39) |
I439V |
probably benign |
Het |
| Smc5 |
T |
A |
19: 23,251,076 (GRCm39) |
N36I |
probably benign |
Het |
| Smurf2 |
A |
G |
11: 106,713,504 (GRCm39) |
F745S |
probably damaging |
Het |
| Spata22 |
A |
G |
11: 73,226,857 (GRCm39) |
N65S |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,934 (GRCm39) |
T1680A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,891,249 (GRCm39) |
V531M |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,879,433 (GRCm39) |
Y727* |
probably null |
Het |
| Tssk1 |
A |
T |
16: 17,712,758 (GRCm39) |
Y181F |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,129,766 (GRCm39) |
V136E |
probably damaging |
Het |
| Uqcrfs1 |
A |
C |
13: 30,729,097 (GRCm39) |
V45G |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,748,649 (GRCm39) |
I101T |
probably benign |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,334 (GRCm39) |
L291Q |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,210,381 (GRCm39) |
I1813F |
probably damaging |
Het |
| Zbtb3 |
T |
A |
19: 8,780,579 (GRCm39) |
V64E |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,878,886 (GRCm39) |
I1115T |
possibly damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,945 (GRCm39) |
L275F |
possibly 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 |
|
IGL01152:Large2
|
APN |
2 |
92,200,984 (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 |
|
|
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 |
2014-05-07 |
Incidental Mutation