Incidental Mutation 'R6301:Large2'
ID |
509076 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Large2
|
Ensembl Gene |
ENSMUSG00000040434 |
Gene Name |
LARGE xylosyl- and glucuronyltransferase 2 |
Synonyms |
5730485C17Rik, Gyltl1b |
MMRRC Submission |
044466-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6301 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
92195391-92201437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92199861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 209
(L209P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044036]
[ENSMUST00000068586]
[ENSMUST00000068702]
[ENSMUST00000090582]
[ENSMUST00000090586]
[ENSMUST00000111284]
[ENSMUST00000111290]
[ENSMUST00000176774]
[ENSMUST00000176810]
[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 |
probably damaging
Transcript: ENSMUST00000068586
AA Change: L184P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064128 Gene: ENSMUSG00000040434 AA Change: L184P
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 |
probably damaging
Transcript: ENSMUST00000090582
AA Change: L184P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088070 Gene: ENSMUSG00000040434 AA Change: L184P
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 damaging
Transcript: ENSMUST00000111284
AA Change: L209P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106915 Gene: ENSMUSG00000040434 AA Change: L209P
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 damaging
Transcript: ENSMUST00000176774
AA Change: L185P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135400 Gene: ENSMUSG00000040434 AA Change: L185P
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 |
probably damaging
Transcript: ENSMUST00000176810
AA Change: L209P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135024 Gene: ENSMUSG00000040434 AA Change: L209P
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000130283
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176820
|
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: ENSMUST00000124428
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175851
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175740
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177273
|
Meta Mutation Damage Score |
0.9078 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (66/66) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
C |
T |
4: 144,285,224 (GRCm39) |
A138T |
probably damaging |
Het |
Acot10 |
T |
C |
15: 20,666,348 (GRCm39) |
N131S |
probably benign |
Het |
Agbl5 |
A |
G |
5: 31,049,177 (GRCm39) |
Y220C |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,664,803 (GRCm39) |
Q914L |
unknown |
Het |
Arhgef25 |
T |
C |
10: 127,021,751 (GRCm39) |
D216G |
possibly damaging |
Het |
Bcas2 |
T |
A |
3: 103,079,187 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
A |
C |
2: 154,072,139 (GRCm39) |
H282P |
possibly damaging |
Het |
Ccdc121rt2 |
A |
T |
5: 112,598,334 (GRCm39) |
I294F |
possibly damaging |
Het |
Ccdc167 |
A |
G |
17: 29,924,556 (GRCm39) |
I15T |
probably damaging |
Het |
Cd248 |
A |
G |
19: 5,120,009 (GRCm39) |
N619S |
probably benign |
Het |
Chrna1 |
A |
G |
2: 73,400,828 (GRCm39) |
F234S |
possibly damaging |
Het |
Clcc1 |
T |
G |
3: 108,580,682 (GRCm39) |
M332R |
probably damaging |
Het |
Cmklr1 |
T |
A |
5: 113,752,999 (GRCm39) |
M1L |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,199,032 (GRCm39) |
M109V |
probably benign |
Het |
Coq2 |
A |
G |
5: 100,809,729 (GRCm39) |
I18T |
possibly damaging |
Het |
Crybg3 |
T |
C |
16: 59,350,701 (GRCm39) |
S880G |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,482,889 (GRCm39) |
C286R |
probably damaging |
Het |
Defa24 |
T |
C |
8: 22,225,299 (GRCm39) |
V63A |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,063,200 (GRCm39) |
R2634H |
probably damaging |
Het |
Dusp8 |
T |
A |
7: 141,636,756 (GRCm39) |
|
probably null |
Het |
Elac1 |
T |
C |
18: 73,871,939 (GRCm39) |
D352G |
probably damaging |
Het |
Ermap |
A |
T |
4: 119,042,800 (GRCm39) |
V241E |
probably damaging |
Het |
Fgf10 |
T |
A |
13: 118,852,047 (GRCm39) |
M43K |
probably benign |
Het |
Gabrd |
A |
G |
4: 155,471,724 (GRCm39) |
V193A |
probably damaging |
Het |
Hectd4 |
T |
G |
5: 121,392,283 (GRCm39) |
C182W |
possibly damaging |
Het |
Hook3 |
C |
T |
8: 26,524,968 (GRCm39) |
W26* |
probably null |
Het |
Kif1a |
C |
A |
1: 92,982,663 (GRCm39) |
E714* |
probably null |
Het |
Krt6b |
T |
C |
15: 101,587,386 (GRCm39) |
E236G |
probably damaging |
Het |
Lats1 |
A |
G |
10: 7,578,871 (GRCm39) |
N665S |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,509,756 (GRCm39) |
|
probably benign |
Het |
Lrrtm3 |
T |
C |
10: 63,925,001 (GRCm39) |
I55M |
probably benign |
Het |
Ltk |
A |
G |
2: 119,582,238 (GRCm39) |
S838P |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,217,194 (GRCm39) |
I348V |
probably benign |
Het |
Mag |
T |
A |
7: 30,600,104 (GRCm39) |
S559C |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,503,120 (GRCm39) |
H1072R |
possibly damaging |
Het |
Mycbp2 |
T |
A |
14: 103,392,862 (GRCm39) |
Q833L |
probably damaging |
Het |
Myh4 |
G |
A |
11: 67,146,159 (GRCm39) |
E1406K |
possibly damaging |
Het |
Npc1 |
C |
T |
18: 12,330,302 (GRCm39) |
V950I |
probably benign |
Het |
Npl |
A |
G |
1: 153,394,627 (GRCm39) |
|
probably null |
Het |
Or10w3 |
A |
G |
19: 13,703,753 (GRCm39) |
I43V |
probably benign |
Het |
Or11g27 |
T |
A |
14: 50,771,711 (GRCm39) |
F281I |
probably benign |
Het |
Or2m13 |
A |
T |
16: 19,226,167 (GRCm39) |
F200I |
possibly damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Oxsm |
A |
T |
14: 16,242,220 (GRCm38) |
I183N |
probably damaging |
Het |
Pde7a |
T |
C |
3: 19,297,327 (GRCm39) |
I108V |
probably benign |
Het |
Pgghg |
A |
T |
7: 140,526,289 (GRCm39) |
T585S |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,452,921 (GRCm39) |
D3949N |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,169,331 (GRCm39) |
H1777Q |
possibly damaging |
Het |
Rela |
G |
A |
19: 5,695,438 (GRCm39) |
|
probably null |
Het |
Rilpl1 |
C |
A |
5: 124,652,602 (GRCm39) |
G41W |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,417,477 (GRCm39) |
K1212E |
probably benign |
Het |
Sgca |
A |
C |
11: 94,863,393 (GRCm39) |
L28V |
probably damaging |
Het |
Ssmem1 |
A |
G |
6: 30,519,758 (GRCm39) |
R148G |
probably damaging |
Het |
St8sia5 |
A |
T |
18: 77,333,836 (GRCm39) |
N165Y |
probably damaging |
Het |
Tbl2 |
A |
T |
5: 135,188,223 (GRCm39) |
H339L |
probably benign |
Het |
Tcof1 |
G |
A |
18: 60,961,897 (GRCm39) |
P718L |
probably damaging |
Het |
Trim72 |
A |
T |
7: 127,603,786 (GRCm39) |
E44V |
possibly damaging |
Het |
Try10 |
T |
A |
6: 41,332,523 (GRCm39) |
S60T |
probably benign |
Het |
Usp31 |
A |
T |
7: 121,247,499 (GRCm39) |
S1315T |
possibly damaging |
Het |
Xrn2 |
A |
G |
2: 146,905,262 (GRCm39) |
I856V |
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTTCTTCCAGAGGTTGCC -3'
(R):5'- CTGCTGTGCCACTTGCTATG -3'
Sequencing Primer
(F):5'- TTCCAGAGGTTGCCCAGGTAC -3'
(R):5'- GCTGTGCCACTTGCTATGTTATC -3'
|
Posted On |
2018-04-02 |