Incidental Mutation 'R6218:Large2'
| ID |
503822 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6218 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
92195391-92201437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92200981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 65
(D65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028650]
[ENSMUST00000068586]
[ENSMUST00000090582]
[ENSMUST00000111284]
[ENSMUST00000148352]
[ENSMUST00000176289]
[ENSMUST00000176339]
[ENSMUST00000176774]
[ENSMUST00000176810]
|
| 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 |
probably benign
Transcript: ENSMUST00000068586
AA Change: D43G
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434
AA Change: D43G
| 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: ENSMUST00000090582
AA Change: D43G
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434
AA Change: D43G
| 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: ENSMUST00000111284
AA Change: D68G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434
AA Change: D68G
| 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: ENSMUST00000148352
AA Change: D43G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434
AA Change: D43G
| 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
AA Change: D43G
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135118
Gene: ENSMUSG00000040434
AA Change: D43G
| 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: D65G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434
AA Change: D65G
| 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: ENSMUST00000176774
AA Change: D43G
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434
AA Change: D43G
| 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 benign
Transcript: ENSMUST00000176810
AA Change: D68G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434
AA Change: D68G
| 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 |
noncoding transcript
Transcript: ENSMUST00000175851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176820
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
G |
T |
11: 99,728,730 (GRCm39) |
Q38K |
probably benign |
Het |
| 9930111J21Rik2 |
A |
T |
11: 48,910,134 (GRCm39) |
N766K |
probably benign |
Het |
| Adam15 |
A |
C |
3: 89,251,190 (GRCm39) |
I505S |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,142,254 (GRCm39) |
M391T |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bclaf1 |
A |
G |
10: 20,210,374 (GRCm39) |
S840G |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,216,021 (GRCm39) |
Y96C |
probably damaging |
Het |
| Cald1 |
CAAAA |
CAAA |
6: 34,724,863 (GRCm39) |
|
probably null |
Het |
| Ddhd1 |
A |
G |
14: 45,851,633 (GRCm39) |
L141P |
probably damaging |
Het |
| Dnaaf3 |
A |
T |
7: 4,526,671 (GRCm39) |
S469T |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,778,828 (GRCm39) |
M323K |
possibly damaging |
Het |
| Eci2 |
T |
A |
13: 35,177,048 (GRCm39) |
|
probably null |
Het |
| Fam227b |
A |
T |
2: 125,968,882 (GRCm39) |
V64E |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,070,054 (GRCm39) |
I524V |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm3443 |
T |
A |
19: 21,533,110 (GRCm39) |
S25T |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,761,616 (GRCm39) |
K14* |
probably null |
Het |
| Grip1 |
T |
C |
10: 119,822,251 (GRCm39) |
S405P |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,877,738 (GRCm39) |
H1020R |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,087 (GRCm39) |
V2136L |
probably benign |
Het |
| Il36rn |
G |
A |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
T |
A |
6: 90,666,617 (GRCm39) |
S607C |
probably damaging |
Het |
| Irag1 |
G |
A |
7: 110,476,112 (GRCm39) |
T819M |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
| L3mbtl3 |
T |
C |
10: 26,168,645 (GRCm39) |
I595V |
unknown |
Het |
| Lrrfip1 |
T |
C |
1: 91,009,881 (GRCm39) |
Y122H |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,569,714 (GRCm39) |
D1002E |
unknown |
Het |
| Mink1 |
C |
T |
11: 70,489,720 (GRCm39) |
T59I |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,092,507 (GRCm39) |
N2097D |
probably benign |
Het |
| Nbea |
C |
A |
3: 55,535,905 (GRCm39) |
C2893F |
probably damaging |
Het |
| Nlgn1 |
A |
T |
3: 25,490,257 (GRCm39) |
V490E |
probably damaging |
Het |
| Or2w1b |
G |
A |
13: 21,300,401 (GRCm39) |
E180K |
probably damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,620 (GRCm39) |
M83T |
probably damaging |
Het |
| Or4c123 |
G |
T |
2: 89,127,306 (GRCm39) |
H103N |
probably damaging |
Het |
| Or4f62 |
T |
C |
2: 111,986,701 (GRCm39) |
I135T |
probably damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
| Pdcl3 |
T |
C |
1: 39,027,152 (GRCm39) |
|
probably null |
Het |
| Pheta2 |
T |
A |
15: 82,227,917 (GRCm39) |
H145Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,897,031 (GRCm39) |
S602T |
possibly damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,646 (GRCm39) |
K541E |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,898,992 (GRCm39) |
V990I |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,430 (GRCm39) |
V828D |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,098,823 (GRCm39) |
Y712H |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,098,926 (GRCm39) |
S1477P |
probably benign |
Het |
| Psma5 |
A |
G |
3: 108,187,118 (GRCm39) |
K239R |
probably benign |
Het |
| Rhobtb1 |
G |
C |
10: 69,106,286 (GRCm39) |
A284P |
probably benign |
Het |
| Samsn1 |
G |
A |
16: 75,742,162 (GRCm39) |
|
noncoding transcript |
Het |
| Scel |
A |
G |
14: 103,809,478 (GRCm39) |
T273A |
probably benign |
Het |
| Slc22a5 |
T |
A |
11: 53,782,444 (GRCm39) |
|
probably benign |
Het |
| Slc25a37 |
A |
T |
14: 69,486,953 (GRCm39) |
M110K |
possibly damaging |
Het |
| Slc6a2 |
A |
T |
8: 93,708,609 (GRCm39) |
M242L |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,246,341 (GRCm39) |
W904L |
probably benign |
Het |
| Ss18l1 |
G |
A |
2: 179,696,905 (GRCm39) |
V109I |
probably benign |
Het |
| Tbx5 |
C |
T |
5: 119,991,663 (GRCm39) |
H245Y |
probably damaging |
Het |
| Thumpd2 |
C |
A |
17: 81,360,342 (GRCm39) |
L244F |
probably damaging |
Het |
| Tmem107 |
T |
A |
11: 68,962,241 (GRCm39) |
V66E |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,715,884 (GRCm39) |
V882A |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttbk1 |
A |
G |
17: 46,781,733 (GRCm39) |
V340A |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,481 (GRCm39) |
E59G |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,983 (GRCm39) |
M299K |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,770,610 (GRCm39) |
Y2018H |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,818,436 (GRCm39) |
E620G |
probably benign |
Het |
| Zfp418 |
A |
G |
7: 7,185,627 (GRCm39) |
H530R |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,581 (GRCm39) |
A10T |
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 |
|
|
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 |
|
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'- GCTGGGTAGCTACATGTCAG -3'
(R):5'- AGTGCTCATCTTGCTATGGTCC -3'
Sequencing Primer
(F):5'- AGCTACATGTCAGGTGCTG -3'
(R):5'- CTGAGTCCCACAGTCATGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation