Incidental Mutation 'R2254:B3gnt4'
| ID |
241862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3gnt4
|
| Ensembl Gene |
ENSMUSG00000029431 |
| Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
| Synonyms |
1010001G17Rik |
| MMRRC Submission |
040254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2254 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
123648523-123649945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 123649342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 236
(I236L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031384]
[ENSMUST00000094327]
[ENSMUST00000111586]
[ENSMUST00000111587]
[ENSMUST00000121444]
[ENSMUST00000125652]
[ENSMUST00000197682]
[ENSMUST00000196809]
[ENSMUST00000200247]
[ENSMUST00000139398]
[ENSMUST00000145152]
|
| AlphaFold |
Q1RLK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031384
AA Change: I236L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431
AA Change: I236L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
106 |
297 |
1.3e-43 |
PFAM |
|
Pfam:Fringe
|
169 |
302 |
2.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094327
|
| SMART Domains |
Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
SCOP:d1a9na_
|
117 |
262 |
3e-16 |
SMART |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111586
|
| SMART Domains |
Protein: ENSMUSP00000107213
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
6 |
174 |
7.6e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111587
|
| SMART Domains |
Protein: ENSMUSP00000107214
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
9 |
237 |
4.1e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121444
|
| SMART Domains |
Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
SCOP:d1a9na_
|
117 |
262 |
4e-16 |
SMART |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125652
|
| SMART Domains |
Protein: ENSMUSP00000115045
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
6 |
237 |
1.1e-111 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196809
|
| SMART Domains |
Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
SCOP:d1a9na_
|
117 |
262 |
2e-16 |
SMART |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200247
|
| SMART Domains |
Protein: ENSMUSP00000143673
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
1 |
109 |
4.4e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139398
|
| SMART Domains |
Protein: ENSMUSP00000143485
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
6 |
150 |
7.1e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145152
|
| SMART Domains |
Protein: ENSMUSP00000143617
Gene: ENSMUSG00000029433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Smac_DIABLO
|
9 |
150 |
3.4e-62 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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 beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,311,365 (GRCm39) |
E260G |
probably benign |
Het |
| AI429214 |
G |
T |
8: 37,460,920 (GRCm39) |
D23Y |
possibly damaging |
Het |
| Alms1 |
A |
G |
6: 85,596,830 (GRCm39) |
Y1021C |
probably damaging |
Het |
| Ang5 |
A |
G |
14: 44,200,074 (GRCm39) |
D46G |
probably benign |
Het |
| Ano9 |
T |
A |
7: 140,683,003 (GRCm39) |
D635V |
probably benign |
Het |
| Apob |
C |
T |
12: 8,061,256 (GRCm39) |
T3246I |
possibly damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,390 (GRCm39) |
E63G |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
| Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
| Cdcp3 |
G |
T |
7: 130,824,634 (GRCm39) |
C243F |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,776,985 (GRCm39) |
|
probably null |
Het |
| Chmp7 |
C |
T |
14: 69,958,405 (GRCm39) |
V255I |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,352,979 (GRCm39) |
S2711T |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,939,707 (GRCm39) |
K137* |
probably null |
Het |
| Gdi2 |
T |
A |
13: 3,604,400 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
A |
G |
16: 4,836,877 (GRCm39) |
V429A |
probably benign |
Het |
| Gm5938 |
T |
A |
X: 77,172,161 (GRCm39) |
|
probably null |
Het |
| Golt1b |
T |
C |
6: 142,341,979 (GRCm39) |
L121P |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
| Ifi204 |
G |
A |
1: 173,589,296 (GRCm39) |
T45M |
possibly damaging |
Het |
| Il18r1 |
A |
G |
1: 40,530,380 (GRCm39) |
N369S |
possibly damaging |
Het |
| Kcnh1 |
G |
T |
1: 192,187,722 (GRCm39) |
|
probably null |
Het |
| Kitl |
G |
A |
10: 99,915,993 (GRCm39) |
|
probably null |
Het |
| Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
| Lax1 |
A |
G |
1: 133,607,971 (GRCm39) |
S257P |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,672,309 (GRCm39) |
I1111T |
probably benign |
Het |
| Lrrcc1 |
G |
A |
3: 14,612,315 (GRCm39) |
R356H |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
| Med11 |
T |
C |
11: 70,342,921 (GRCm39) |
|
probably null |
Het |
| Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Nup93 |
T |
C |
8: 94,954,485 (GRCm39) |
|
probably null |
Het |
| Or51ag1 |
A |
G |
7: 103,155,271 (GRCm39) |
V294A |
probably damaging |
Het |
| Ovch2 |
A |
G |
7: 107,389,402 (GRCm39) |
V342A |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,894,228 (GRCm39) |
|
probably benign |
Het |
| Oxtr |
A |
T |
6: 112,466,067 (GRCm39) |
L231Q |
probably damaging |
Het |
| Prap1 |
A |
G |
7: 139,676,075 (GRCm39) |
T30A |
probably damaging |
Het |
| Scg2 |
G |
A |
1: 79,414,217 (GRCm39) |
P169S |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,424,666 (GRCm39) |
V549A |
possibly damaging |
Het |
| Slc22a12 |
A |
T |
19: 6,592,571 (GRCm39) |
V57D |
possibly damaging |
Het |
| Slc22a28 |
A |
C |
19: 8,041,858 (GRCm39) |
C450G |
probably benign |
Het |
| Tas2r120 |
A |
T |
6: 132,634,572 (GRCm39) |
Q218L |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,259,190 (GRCm39) |
T354A |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,935,612 (GRCm39) |
T868A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
| Wdr20rt |
T |
A |
12: 65,273,007 (GRCm39) |
W56R |
probably damaging |
Het |
| Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,397,344 (GRCm39) |
D51G |
possibly damaging |
Het |
| Zfp64 |
G |
A |
2: 168,768,662 (GRCm39) |
H317Y |
probably damaging |
Het |
|
| Other mutations in B3gnt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:B3gnt4
|
APN |
5 |
123,649,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01791:B3gnt4
|
APN |
5 |
123,649,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02825:B3gnt4
|
APN |
5 |
123,649,114 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1996:B3gnt4
|
UTSW |
5 |
123,649,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:B3gnt4
|
UTSW |
5 |
123,649,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2071:B3gnt4
|
UTSW |
5 |
123,649,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2255:B3gnt4
|
UTSW |
5 |
123,649,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3153:B3gnt4
|
UTSW |
5 |
123,648,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3608:B3gnt4
|
UTSW |
5 |
123,648,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:B3gnt4
|
UTSW |
5 |
123,649,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6438:B3gnt4
|
UTSW |
5 |
123,649,654 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6496:B3gnt4
|
UTSW |
5 |
123,649,654 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7427:B3gnt4
|
UTSW |
5 |
123,648,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7428:B3gnt4
|
UTSW |
5 |
123,648,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7573:B3gnt4
|
UTSW |
5 |
123,648,718 (GRCm39) |
missense |
probably benign |
|
|
R8155:B3gnt4
|
UTSW |
5 |
123,649,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8879:B3gnt4
|
UTSW |
5 |
123,649,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:B3gnt4
|
UTSW |
5 |
123,649,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTAACCTGACTCTCAAGGAGC -3'
(R):5'- GCATGGTGTATGGGAGTCAC -3'
Sequencing Primer
(F):5'- TGACTCTCAAGGAGCTGCAC -3'
(R):5'- ACCCCCAGCTTCCTCAGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation