Incidental Mutation 'IGL01395:B3gnt4'
ID |
79411 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.073)
|
Stock # |
IGL01395
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
123648523-123649945 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 123649131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 165
(F165L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031384
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031384]
[ENSMUST00000094327]
[ENSMUST00000111587]
[ENSMUST00000121444]
[ENSMUST00000125652]
[ENSMUST00000139398]
[ENSMUST00000197682]
[ENSMUST00000196809]
[ENSMUST00000200247]
[ENSMUST00000145152]
|
AlphaFold |
Q1RLK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031384
AA Change: F165L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031384 Gene: ENSMUSG00000029431 AA Change: F165L
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: 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: 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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,575,880 (GRCm39) |
R52H |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,027,383 (GRCm39) |
Y84N |
possibly damaging |
Het |
Calcrl |
T |
C |
2: 84,198,919 (GRCm39) |
I157V |
probably benign |
Het |
Clpx |
T |
C |
9: 65,209,133 (GRCm39) |
S83P |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,812,980 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
G |
7: 144,011,464 (GRCm39) |
V115A |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,735,361 (GRCm39) |
V770I |
possibly damaging |
Het |
Ddx19a |
A |
G |
8: 111,717,164 (GRCm39) |
|
probably benign |
Het |
Dennd6a |
T |
A |
14: 26,338,056 (GRCm39) |
Y175* |
probably null |
Het |
Dhx58 |
C |
T |
11: 100,594,752 (GRCm39) |
G48D |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,854,979 (GRCm39) |
F178I |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,076,339 (GRCm39) |
I629T |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,694,654 (GRCm39) |
I492V |
probably benign |
Het |
Gm16505 |
G |
A |
13: 3,411,242 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
G |
A |
9: 118,364,441 (GRCm39) |
G259D |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,371,534 (GRCm39) |
H668R |
unknown |
Het |
Gucy2c |
G |
T |
6: 136,675,027 (GRCm39) |
Q1019K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,544 (GRCm39) |
|
probably null |
Het |
Jph2 |
T |
C |
2: 163,181,847 (GRCm39) |
N439S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,902,047 (GRCm39) |
D1249E |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,394,687 (GRCm39) |
V246A |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,639,444 (GRCm39) |
D1295G |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,922,792 (GRCm39) |
M599K |
probably damaging |
Het |
Nr3c2 |
T |
C |
8: 77,635,477 (GRCm39) |
S193P |
possibly damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,165 (GRCm39) |
Q33L |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,350,225 (GRCm39) |
M514K |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,255,713 (GRCm39) |
F73L |
probably damaging |
Het |
Or5ac16 |
T |
A |
16: 59,022,460 (GRCm39) |
T110S |
possibly damaging |
Het |
Or9i2 |
A |
T |
19: 13,816,316 (GRCm39) |
S74T |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,216,368 (GRCm39) |
V569A |
probably damaging |
Het |
Ppm1k |
T |
C |
6: 57,490,943 (GRCm39) |
H324R |
probably benign |
Het |
Prdm5 |
A |
G |
6: 65,847,374 (GRCm39) |
H155R |
possibly damaging |
Het |
Prpf19 |
C |
T |
19: 10,878,375 (GRCm39) |
T287I |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Pygb |
C |
A |
2: 150,643,503 (GRCm39) |
Q97K |
probably benign |
Het |
Rab27b |
T |
C |
18: 70,118,288 (GRCm39) |
K210E |
probably benign |
Het |
Rttn |
T |
G |
18: 89,147,894 (GRCm39) |
N2182K |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,728 (GRCm39) |
Q18R |
probably damaging |
Het |
Stat4 |
C |
T |
1: 52,051,033 (GRCm39) |
R31W |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,846 (GRCm39) |
C128* |
probably null |
Het |
Tm9sf3 |
T |
C |
19: 41,244,715 (GRCm39) |
E54G |
probably damaging |
Het |
Tmx1 |
A |
T |
12: 70,507,251 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,613,939 (GRCm39) |
V859E |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,194,158 (GRCm39) |
D1360G |
probably damaging |
Het |
|
Other mutations in B3gnt4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-11-05 |