Incidental Mutation 'R7441:B3galnt2'
ID |
576973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B3galnt2
|
Ensembl Gene |
ENSMUSG00000039242 |
Gene Name |
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 |
Synonyms |
D230016N13Rik, A930105D20Rik |
MMRRC Submission |
045517-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7441 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
14129059-14173688 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 14169070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 368
(V368M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039894]
[ENSMUST00000099747]
[ENSMUST00000159893]
[ENSMUST00000162326]
[ENSMUST00000220681]
[ENSMUST00000221300]
[ENSMUST00000221974]
[ENSMUST00000222110]
[ENSMUST00000223483]
|
AlphaFold |
Q8BG28 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039894
|
SMART Domains |
Protein: ENSMUSP00000047880 Gene: ENSMUSG00000039233
Domain | Start | End | E-Value | Type |
CAP_GLY
|
10 |
76 |
5.23e-32 |
SMART |
SCOP:d1fqva2
|
117 |
345 |
4e-20 |
SMART |
low complexity region
|
347 |
360 |
N/A |
INTRINSIC |
Pfam:Ubiquitin_2
|
442 |
523 |
1.1e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099747
AA Change: V368M
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000097336 Gene: ENSMUSG00000039242 AA Change: V368M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Galactosyl_T
|
300 |
460 |
2.9e-26 |
PFAM |
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159893
|
SMART Domains |
Protein: ENSMUSP00000125244 Gene: ENSMUSG00000039233
Domain | Start | End | E-Value | Type |
SCOP:d1lpla_
|
9 |
35 |
3e-5 |
SMART |
Blast:CAP_GLY
|
10 |
34 |
2e-10 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162326
|
SMART Domains |
Protein: ENSMUSP00000125613 Gene: ENSMUSG00000039233
Domain | Start | End | E-Value | Type |
CAP_GLY
|
10 |
76 |
5.23e-32 |
SMART |
SCOP:d1fqva2
|
117 |
345 |
4e-21 |
SMART |
low complexity region
|
347 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220681
AA Change: V149M
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221300
AA Change: V368M
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221333
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221974
AA Change: V368M
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222110
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222420
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223483
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
C |
2: 151,314,845 (GRCm39) |
S278A |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,251,554 (GRCm39) |
D411G |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,871,987 (GRCm39) |
I894V |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,477,392 (GRCm39) |
V725A |
possibly damaging |
Het |
Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,551,262 (GRCm39) |
R808G |
probably damaging |
Het |
Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
Bahcc1 |
T |
C |
11: 120,177,132 (GRCm39) |
S2007P |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,087,254 (GRCm39) |
I1212N |
possibly damaging |
Het |
Dnajc16 |
A |
T |
4: 141,491,124 (GRCm39) |
D675E |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,462,503 (GRCm39) |
F4L |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,708,549 (GRCm39) |
I707N |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,302,377 (GRCm39) |
T1555A |
probably benign |
Het |
Erc1 |
G |
A |
6: 119,801,912 (GRCm39) |
T35I |
possibly damaging |
Het |
Esr2 |
C |
A |
12: 76,188,168 (GRCm39) |
M363I |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,749,000 (GRCm39) |
N446I |
possibly damaging |
Het |
Evpl |
T |
A |
11: 116,113,782 (GRCm39) |
K1303* |
probably null |
Het |
Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
Fam186b |
A |
G |
15: 99,177,970 (GRCm39) |
L452P |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
Gtf3c3 |
G |
A |
1: 54,459,607 (GRCm39) |
T385M |
probably benign |
Het |
Iqgap2 |
C |
A |
13: 95,764,584 (GRCm39) |
M1553I |
probably benign |
Het |
Kcnk1 |
G |
T |
8: 126,722,307 (GRCm39) |
G37C |
probably damaging |
Het |
Kifc3 |
T |
C |
8: 95,864,615 (GRCm39) |
M32V |
probably benign |
Het |
Krt81 |
C |
A |
15: 101,359,251 (GRCm39) |
K222N |
possibly damaging |
Het |
Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
Mybbp1a |
T |
A |
11: 72,342,101 (GRCm39) |
V1279E |
probably benign |
Het |
Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
Or11g26 |
A |
T |
14: 50,752,853 (GRCm39) |
Y64F |
probably damaging |
Het |
Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
A |
G |
4: 143,145,410 (GRCm39) |
Y293C |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,512,416 (GRCm39) |
V407A |
probably benign |
Het |
Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
Scn11a |
C |
T |
9: 119,587,692 (GRCm39) |
V1351I |
probably benign |
Het |
Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
Swt1 |
A |
T |
1: 151,286,815 (GRCm39) |
F226I |
probably benign |
Het |
Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
Timd5 |
G |
A |
11: 46,419,382 (GRCm39) |
W66* |
probably null |
Het |
Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,147 (GRCm39) |
E280G |
possibly damaging |
Het |
Zfp810 |
C |
A |
9: 22,190,568 (GRCm39) |
E78* |
probably null |
Het |
Zfp937 |
GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT |
G |
2: 150,080,630 (GRCm39) |
|
probably null |
Het |
|
Other mutations in B3galnt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:B3galnt2
|
APN |
13 |
14,162,016 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01149:B3galnt2
|
APN |
13 |
14,155,270 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01814:B3galnt2
|
APN |
13 |
14,161,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02383:B3galnt2
|
APN |
13 |
14,171,618 (GRCm39) |
makesense |
probably null |
|
R0106:B3galnt2
|
UTSW |
13 |
14,170,378 (GRCm39) |
missense |
probably benign |
|
R0349:B3galnt2
|
UTSW |
13 |
14,166,059 (GRCm39) |
missense |
probably benign |
|
R0676:B3galnt2
|
UTSW |
13 |
14,170,378 (GRCm39) |
missense |
probably benign |
|
R1522:B3galnt2
|
UTSW |
13 |
14,145,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R1830:B3galnt2
|
UTSW |
13 |
14,166,119 (GRCm39) |
nonsense |
probably null |
|
R2035:B3galnt2
|
UTSW |
13 |
14,140,909 (GRCm39) |
missense |
probably benign |
0.10 |
R3686:B3galnt2
|
UTSW |
13 |
14,150,220 (GRCm39) |
critical splice donor site |
probably null |
|
R3954:B3galnt2
|
UTSW |
13 |
14,141,039 (GRCm39) |
missense |
probably benign |
0.04 |
R5369:B3galnt2
|
UTSW |
13 |
14,169,010 (GRCm39) |
splice site |
probably null |
|
R5435:B3galnt2
|
UTSW |
13 |
14,171,575 (GRCm39) |
missense |
probably benign |
0.01 |
R5564:B3galnt2
|
UTSW |
13 |
14,169,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R5628:B3galnt2
|
UTSW |
13 |
14,169,737 (GRCm39) |
splice site |
probably null |
|
R6118:B3galnt2
|
UTSW |
13 |
14,166,094 (GRCm39) |
missense |
probably damaging |
0.96 |
R6396:B3galnt2
|
UTSW |
13 |
14,170,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R6529:B3galnt2
|
UTSW |
13 |
14,170,377 (GRCm39) |
missense |
probably benign |
0.00 |
R6656:B3galnt2
|
UTSW |
13 |
14,150,161 (GRCm39) |
missense |
probably benign |
0.00 |
R7345:B3galnt2
|
UTSW |
13 |
14,155,065 (GRCm39) |
splice site |
probably null |
|
R7439:B3galnt2
|
UTSW |
13 |
14,169,070 (GRCm39) |
missense |
probably benign |
0.34 |
R7582:B3galnt2
|
UTSW |
13 |
14,165,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:B3galnt2
|
UTSW |
13 |
14,169,077 (GRCm39) |
missense |
probably benign |
0.15 |
R8135:B3galnt2
|
UTSW |
13 |
14,145,454 (GRCm39) |
critical splice donor site |
probably null |
|
R9216:B3galnt2
|
UTSW |
13 |
14,165,423 (GRCm39) |
missense |
probably benign |
0.08 |
R9229:B3galnt2
|
UTSW |
13 |
14,166,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R9350:B3galnt2
|
UTSW |
13 |
14,170,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R9422:B3galnt2
|
UTSW |
13 |
14,150,136 (GRCm39) |
missense |
probably benign |
0.36 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGTGTGTAGGGTAAGACAC -3'
(R):5'- AGCCACATCTTTGACTCCTG -3'
Sequencing Primer
(F):5'- CACTGAAGGTGCACAGCTGTAC -3'
(R):5'- ACAAAATTCCCTCAGATTACAGTG -3'
|
Posted On |
2019-10-07 |