Incidental Mutation 'R4239:Large2'
ID |
321241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Large2
|
Ensembl Gene |
ENSMUSG00000040434 |
Gene Name |
LARGE xylosyl- and glucuronyltransferase 2 |
Synonyms |
5730485C17Rik, Gyltl1b |
MMRRC Submission |
041056-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4239 (G1)
|
Quality Score |
200 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
92195391-92201437 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 92196950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044036]
[ENSMUST00000068586]
[ENSMUST00000068702]
[ENSMUST00000090582]
[ENSMUST00000090586]
[ENSMUST00000111284]
[ENSMUST00000148352]
[ENSMUST00000176289]
[ENSMUST00000176339]
[ENSMUST00000111290]
[ENSMUST00000111293]
[ENSMUST00000111294]
[ENSMUST00000111297]
[ENSMUST00000176810]
[ENSMUST00000176774]
|
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 benign
Transcript: ENSMUST00000068586
|
SMART Domains |
Protein: ENSMUSP00000064128 Gene: ENSMUSG00000040434
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 benign
Transcript: ENSMUST00000090582
|
SMART Domains |
Protein: ENSMUSP00000088070 Gene: ENSMUSG00000040434
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
|
SMART Domains |
Protein: ENSMUSP00000106915 Gene: ENSMUSG00000040434
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: ENSMUST00000175851
|
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: 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: ENSMUST00000175740
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124428
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146311
|
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 |
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: ENSMUST00000111293
|
SMART Domains |
Protein: ENSMUSP00000106924 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: ENSMUST00000111294
|
SMART Domains |
Protein: ENSMUSP00000106925 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 |
PHD
|
452 |
495 |
3.12e-15 |
SMART |
RING
|
453 |
494 |
1.85e-1 |
SMART |
coiled coil region
|
519 |
564 |
N/A |
INTRINSIC |
low complexity region
|
612 |
632 |
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: ENSMUST00000176810
|
SMART Domains |
Protein: ENSMUSP00000135024 Gene: ENSMUSG00000040434
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: ENSMUST00000176774
|
SMART Domains |
Protein: ENSMUSP00000135400 Gene: ENSMUSG00000040434
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: ENSMUST00000176646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177273
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176820
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (55/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
Alpk2 |
T |
A |
18: 65,433,212 (GRCm39) |
I1765F |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,237,414 (GRCm39) |
I696N |
probably damaging |
Het |
Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,035,710 (GRCm39) |
N759D |
probably benign |
Het |
B4galnt4 |
T |
C |
7: 140,641,239 (GRCm39) |
L18P |
probably damaging |
Het |
Boc |
T |
C |
16: 44,312,247 (GRCm39) |
D605G |
probably damaging |
Het |
Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
Cog4 |
T |
C |
8: 111,585,244 (GRCm39) |
I303T |
probably damaging |
Het |
Col18a1 |
C |
T |
10: 76,932,001 (GRCm39) |
V363I |
unknown |
Het |
Crip3 |
A |
T |
17: 46,742,156 (GRCm39) |
K184* |
probably null |
Het |
Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
Dnah3 |
G |
A |
7: 119,628,248 (GRCm39) |
Q1459* |
probably null |
Het |
Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
Ehhadh |
T |
G |
16: 21,581,438 (GRCm39) |
D518A |
probably damaging |
Het |
Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
Fbxl3 |
G |
A |
14: 103,326,854 (GRCm39) |
S176L |
probably damaging |
Het |
Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
Ifi214 |
A |
T |
1: 173,352,509 (GRCm39) |
S307T |
possibly damaging |
Het |
Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
Myo5c |
T |
C |
9: 75,191,224 (GRCm39) |
I1086T |
probably benign |
Het |
Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
Or51f1d |
T |
C |
7: 102,701,003 (GRCm39) |
V166A |
probably benign |
Het |
Or5g25 |
T |
A |
2: 85,478,647 (GRCm39) |
Q6L |
probably damaging |
Het |
Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
Plcb1 |
A |
T |
2: 135,186,078 (GRCm39) |
I682F |
probably damaging |
Het |
Plcz1 |
T |
A |
6: 139,986,344 (GRCm39) |
|
probably null |
Het |
Prl7a1 |
T |
A |
13: 27,821,549 (GRCm39) |
Q129L |
possibly damaging |
Het |
Prrt4 |
T |
C |
6: 29,170,163 (GRCm39) |
Y763C |
probably damaging |
Het |
Psma7 |
T |
C |
2: 179,681,304 (GRCm39) |
|
probably benign |
Het |
Serpinb6b |
G |
C |
13: 33,156,246 (GRCm39) |
C112S |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Slc35f5 |
G |
A |
1: 125,500,211 (GRCm39) |
A242T |
possibly damaging |
Het |
Speer4b |
T |
C |
5: 27,706,311 (GRCm39) |
R19G |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
Trbv12-2 |
A |
G |
6: 41,095,831 (GRCm39) |
N12D |
probably benign |
Het |
Uba7 |
T |
C |
9: 107,854,001 (GRCm39) |
|
probably null |
Het |
Upf3a |
A |
G |
8: 13,846,591 (GRCm39) |
R324G |
probably benign |
Het |
Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
Wbp2 |
G |
A |
11: 115,971,373 (GRCm39) |
|
probably benign |
Het |
Wdpcp |
T |
A |
11: 21,645,269 (GRCm39) |
N232K |
probably damaging |
Het |
Wdpcp |
T |
A |
11: 21,645,271 (GRCm39) |
M233K |
probably benign |
Het |
Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCCGGTACACTACATGGTAG -3'
(R):5'- TGCATAGGCTGAGACTGAGG -3'
Sequencing Primer
(F):5'- GTAGGCCACATCCTTCCTCATAGAG -3'
(R):5'- CGGTTGTCAAATGTAGATGCACCC -3'
|
Posted On |
2015-06-12 |