Incidental Mutation 'R6438:B3gnt4'
| ID |
518855 |
| 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 |
044576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123648523-123649945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123649654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 340
(E340K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031384]
[ENSMUST00000094327]
[ENSMUST00000111586]
[ENSMUST00000111587]
[ENSMUST00000121444]
[ENSMUST00000125652]
[ENSMUST00000200247]
[ENSMUST00000197682]
[ENSMUST00000139398]
[ENSMUST00000145152]
[ENSMUST00000196809]
|
| AlphaFold |
Q1RLK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031384
AA Change: E340K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431
AA Change: E340K
| 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: 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: ENSMUST00000197682
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1094 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
A |
T |
10: 67,384,371 (GRCm39) |
I78N |
probably damaging |
Het |
| Arhgap18 |
T |
C |
10: 26,648,694 (GRCm39) |
|
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
| Atxn2 |
T |
A |
5: 121,917,495 (GRCm39) |
I463N |
probably damaging |
Het |
| C1ra |
C |
T |
6: 124,490,736 (GRCm39) |
T43I |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,826,465 (GRCm39) |
Y683N |
possibly damaging |
Het |
| Catspere2 |
T |
C |
1: 177,938,869 (GRCm39) |
Y581H |
possibly damaging |
Het |
| Cdk12 |
T |
A |
11: 98,115,293 (GRCm39) |
Y811* |
probably null |
Het |
| Cfap20dc |
C |
T |
14: 8,431,701 (GRCm38) |
V644M |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,725,149 (GRCm39) |
E1159D |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,766,969 (GRCm39) |
S505T |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,401,390 (GRCm39) |
Y13F |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,572,031 (GRCm39) |
C770S |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,120,927 (GRCm39) |
R436L |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,663,970 (GRCm39) |
|
probably null |
Het |
| Gm17078 |
A |
G |
14: 51,848,695 (GRCm39) |
V14A |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,596,242 (GRCm39) |
*776Q |
probably null |
Het |
| Ldb2 |
T |
C |
5: 44,637,652 (GRCm39) |
R219G |
probably damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,712,062 (GRCm39) |
E587G |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 15,619,017 (GRCm39) |
S294P |
|
Het |
| Map7 |
A |
G |
10: 20,143,003 (GRCm39) |
E384G |
unknown |
Het |
| Miga1 |
T |
C |
3: 152,028,040 (GRCm39) |
D163G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,099,382 (GRCm39) |
S1680F |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,130,379 (GRCm39) |
V665M |
probably damaging |
Het |
| Npas3 |
T |
C |
12: 54,115,481 (GRCm39) |
V770A |
probably damaging |
Het |
| Pcm1 |
C |
T |
8: 41,778,418 (GRCm39) |
R1818W |
possibly damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,668,740 (GRCm39) |
N701K |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,749,022 (GRCm39) |
V187A |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,725 (GRCm39) |
C654S |
probably damaging |
Het |
| Srek1ip1 |
A |
G |
13: 104,973,878 (GRCm39) |
Y95C |
probably benign |
Het |
| Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,602,673 (GRCm39) |
I231N |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,314,266 (GRCm39) |
M717T |
probably benign |
Het |
| Zfp672 |
T |
C |
11: 58,207,563 (GRCm39) |
T253A |
probably benign |
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 |
|
R2254:B3gnt4
|
UTSW |
5 |
123,649,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- GGCAGAGCTCTTTCCTATTGACG -3'
(R):5'- AGAAGTTTGCCAGGTTTCAGC -3'
Sequencing Primer
(F):5'- AGAGCTCTTTCCTATTGACGATGTC -3'
(R):5'- TCTCCTGGTGATAGGAGT -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation