Incidental Mutation 'IGL01791:B3gnt4'
ID |
155228 |
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 # |
IGL01791
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
123648523-123649945 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 123649162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 176
(R176C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031384
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031384]
[ENSMUST00000094327]
[ENSMUST00000111587]
[ENSMUST00000121444]
[ENSMUST00000125652]
[ENSMUST00000139398]
[ENSMUST00000197682]
[ENSMUST00000145152]
[ENSMUST00000200247]
[ENSMUST00000196809]
|
AlphaFold |
Q1RLK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031384
AA Change: R176C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031384 Gene: ENSMUSG00000029431 AA Change: R176C
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: 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: 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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap32 |
A |
G |
9: 32,158,486 (GRCm39) |
I174V |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,567,211 (GRCm39) |
C511S |
probably damaging |
Het |
Atr |
C |
T |
9: 95,803,834 (GRCm39) |
A1896V |
probably benign |
Het |
Brf1 |
T |
C |
12: 112,926,095 (GRCm39) |
D557G |
probably benign |
Het |
Catsperg2 |
T |
A |
7: 29,404,090 (GRCm39) |
|
probably null |
Het |
Cdip1 |
A |
G |
16: 4,586,729 (GRCm39) |
I122T |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,199 (GRCm39) |
E147K |
probably benign |
Het |
Dennd2c |
T |
C |
3: 103,073,741 (GRCm39) |
V829A |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,625,364 (GRCm39) |
L3874Q |
probably damaging |
Het |
Dynlt4 |
T |
A |
4: 116,985,794 (GRCm39) |
S206T |
probably damaging |
Het |
Gm10521 |
T |
C |
1: 171,723,964 (GRCm39) |
S92P |
unknown |
Het |
Gm57858 |
T |
C |
3: 36,089,416 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hddc2 |
A |
G |
10: 31,202,022 (GRCm39) |
Y123C |
probably damaging |
Het |
Hyal4 |
T |
C |
6: 24,763,894 (GRCm39) |
|
probably benign |
Het |
Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
Ing2 |
A |
T |
8: 48,122,070 (GRCm39) |
S159R |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,124,197 (GRCm39) |
N698K |
probably benign |
Het |
Lemd2 |
A |
T |
17: 27,409,702 (GRCm39) |
I483N |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,887 (GRCm39) |
L519P |
probably damaging |
Het |
Mapk10 |
T |
C |
5: 103,144,514 (GRCm39) |
N101S |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,695 (GRCm39) |
E164V |
probably null |
Het |
Nfkb2 |
T |
G |
19: 46,298,278 (GRCm39) |
|
probably benign |
Het |
Nox3 |
A |
G |
17: 3,733,218 (GRCm39) |
V231A |
possibly damaging |
Het |
Nup160 |
G |
A |
2: 90,534,197 (GRCm39) |
G674D |
probably damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,548 (GRCm39) |
D108V |
probably damaging |
Het |
Or56b1 |
C |
T |
7: 104,285,682 (GRCm39) |
T267I |
possibly damaging |
Het |
Otoa |
T |
G |
7: 120,755,072 (GRCm39) |
V998G |
probably benign |
Het |
Pcnx3 |
A |
T |
19: 5,723,295 (GRCm39) |
M1300K |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,448,127 (GRCm39) |
|
probably benign |
Het |
Rfc1 |
T |
A |
5: 65,420,488 (GRCm39) |
K1104I |
probably benign |
Het |
Serpina1f |
G |
T |
12: 103,659,761 (GRCm39) |
Q174K |
probably damaging |
Het |
Serping1 |
T |
C |
2: 84,603,721 (GRCm39) |
N107D |
possibly damaging |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Surf6 |
A |
G |
2: 26,789,759 (GRCm39) |
S94P |
probably benign |
Het |
Tigd4 |
T |
A |
3: 84,502,052 (GRCm39) |
I323N |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,491,161 (GRCm39) |
D362G |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,085,278 (GRCm39) |
S739P |
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 |
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 |
2014-02-04 |