Incidental Mutation 'R3608:B3gnt4'
| ID |
269154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3gnt4
|
| Ensembl Gene |
ENSMUSG00000029431 |
| Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
| Synonyms |
1010001G17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R3608 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
123648523-123649945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123648838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 68
(R68S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031384]
[ENSMUST00000094327]
[ENSMUST00000111587]
[ENSMUST00000121444]
[ENSMUST00000125652]
[ENSMUST00000139398]
[ENSMUST00000200247]
[ENSMUST00000196809]
[ENSMUST00000197682]
|
| AlphaFold |
Q1RLK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031384
AA Change: R68S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431
AA Change: R68S
| 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: 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: 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: 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: 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: ENSMUST00000197682
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brf1 |
A |
G |
12: 112,924,894 (GRCm39) |
L610P |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,291,831 (GRCm39) |
R1783S |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,845,119 (GRCm39) |
I208N |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,668,844 (GRCm39) |
L127F |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
C |
T |
2: 156,590,332 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,018,688 (GRCm39) |
N619K |
possibly damaging |
Het |
| Hamp2 |
T |
C |
7: 30,623,539 (GRCm39) |
T8A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,909 (GRCm39) |
N407K |
probably damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,148,393 (GRCm39) |
T391M |
probably benign |
Het |
| Mroh2a |
G |
T |
1: 88,172,717 (GRCm39) |
A829S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,328,186 (GRCm39) |
N884S |
probably benign |
Het |
| Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,840 (GRCm39) |
T204A |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,884,925 (GRCm39) |
D30E |
probably benign |
Het |
| Rtkn |
T |
A |
6: 83,127,016 (GRCm39) |
C328S |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,579,492 (GRCm39) |
T97K |
probably benign |
Het |
| Srd5a2 |
A |
G |
17: 74,334,026 (GRCm39) |
V131A |
probably benign |
Het |
| Tm9sf4 |
A |
G |
2: 153,020,897 (GRCm39) |
H35R |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,255,449 (GRCm39) |
D1412E |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,660,235 (GRCm39) |
V216I |
possibly damaging |
Het |
| Ypel1 |
A |
T |
16: 16,910,154 (GRCm39) |
C126* |
probably null |
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 |
|
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'- CGACTATGTTGCCCAGGTTG -3'
(R):5'- AGGAGGAACACCAGCTTCAG -3'
Sequencing Primer
(F):5'- CTGTGTGCTGTTCTGCAGTC -3'
(R):5'- TTCAGCTGCCGACCCCTAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation