Incidental Mutation 'IGL00858:B4galnt1'
| ID |
9180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B4galnt1
|
| Ensembl Gene |
ENSMUSG00000006731 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
| Synonyms |
beta1,4GalNAC-T, Gal-NAc-T, GalNAc-T, Galgt1, GalNAcT, Ggm2, GM2/GD2 synthase, Ggm-2, 4933429D13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00858
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127001094-127008199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127003633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 199
(T199A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006914]
[ENSMUST00000095270]
[ENSMUST00000217678]
[ENSMUST00000222911]
|
| AlphaFold |
Q09200 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006914
AA Change: T199A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731
AA Change: T199A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
280 |
450 |
7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095270
|
| SMART Domains |
Protein: ENSMUSP00000092904
Gene: ENSMUSG00000040441
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
Pfam:Sulfate_transp
|
105 |
497 |
5.5e-103 |
PFAM |
|
low complexity region
|
512 |
522 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
549 |
664 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222911
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,967,537 (GRCm39) |
V988M |
probably damaging |
Het |
| Afap1l1 |
G |
A |
18: 61,869,925 (GRCm39) |
T635M |
probably benign |
Het |
| Ccdc183 |
T |
A |
2: 25,499,783 (GRCm39) |
M378L |
probably benign |
Het |
| Ccser1 |
C |
A |
6: 61,787,649 (GRCm39) |
S134* |
probably null |
Het |
| Cluh |
A |
G |
11: 74,550,431 (GRCm39) |
K248E |
possibly damaging |
Het |
| Cpa6 |
T |
A |
1: 10,554,219 (GRCm39) |
R129S |
probably damaging |
Het |
| Cyp2c29 |
T |
A |
19: 39,296,100 (GRCm39) |
V138D |
probably damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,692 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,545,720 (GRCm39) |
N841S |
possibly damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,861,452 (GRCm39) |
I98N |
probably damaging |
Het |
| Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,455,217 (GRCm39) |
M3L |
probably benign |
Het |
| Mtch1 |
C |
T |
17: 29,559,430 (GRCm39) |
D74N |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,578,493 (GRCm39) |
V1588A |
probably damaging |
Het |
| Pbk |
T |
C |
14: 66,049,373 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
A |
T |
5: 145,088,092 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,029,241 (GRCm39) |
I438F |
probably damaging |
Het |
| Tas2r113 |
C |
A |
6: 132,870,115 (GRCm39) |
R48S |
probably benign |
Het |
| Tektl1 |
T |
C |
10: 78,586,403 (GRCm39) |
D216G |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,915,962 (GRCm39) |
|
probably null |
Het |
| Tnnt2 |
G |
A |
1: 135,779,440 (GRCm39) |
V277I |
probably damaging |
Het |
| Twnk |
G |
T |
19: 44,996,065 (GRCm39) |
W166L |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,644,987 (GRCm39) |
L580F |
possibly damaging |
Het |
| Utp20 |
T |
A |
10: 88,645,000 (GRCm39) |
E575D |
probably benign |
Het |
|
| Other mutations in B4galnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:B4galnt1
|
APN |
10 |
127,002,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:B4galnt1
|
APN |
10 |
127,005,648 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01924:B4galnt1
|
APN |
10 |
127,002,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02996:B4galnt1
|
APN |
10 |
127,002,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hypokalemic
|
UTSW |
10 |
127,007,662 (GRCm39) |
splice site |
probably null |
|
|
ANU18:B4galnt1
|
UTSW |
10 |
127,005,648 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0233:B4galnt1
|
UTSW |
10 |
127,006,780 (GRCm39) |
unclassified |
probably benign |
|
|
R4646:B4galnt1
|
UTSW |
10 |
127,003,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4702:B4galnt1
|
UTSW |
10 |
127,003,394 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4703:B4galnt1
|
UTSW |
10 |
127,003,394 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4705:B4galnt1
|
UTSW |
10 |
127,003,394 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4708:B4galnt1
|
UTSW |
10 |
127,005,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:B4galnt1
|
UTSW |
10 |
127,007,691 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6644:B4galnt1
|
UTSW |
10 |
127,007,662 (GRCm39) |
splice site |
probably null |
|
|
R7006:B4galnt1
|
UTSW |
10 |
127,005,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7278:B4galnt1
|
UTSW |
10 |
127,003,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7396:B4galnt1
|
UTSW |
10 |
127,007,485 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7886:B4galnt1
|
UTSW |
10 |
127,002,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7935:B4galnt1
|
UTSW |
10 |
127,007,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:B4galnt1
|
UTSW |
10 |
127,007,584 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9057:B4galnt1
|
UTSW |
10 |
127,006,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9520:B4galnt1
|
UTSW |
10 |
127,006,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation