Incidental Mutation 'IGL01301:B4galnt1'
| ID |
73231 |
| 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 # |
IGL01301
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127001094-127008199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127005648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 250
(T250A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006914]
[ENSMUST00000095270]
[ENSMUST00000217678]
[ENSMUST00000222911]
|
| AlphaFold |
Q09200 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006914
AA Change: T250A
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731
AA Change: T250A
| 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 |
silent
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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
T |
17: 15,164,181 (GRCm39) |
|
probably null |
Het |
| Acacb |
A |
T |
5: 114,384,559 (GRCm39) |
I2238L |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,710 (GRCm39) |
Y95C |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,551,425 (GRCm39) |
T1056A |
probably damaging |
Het |
| Cela3b |
A |
T |
4: 137,151,154 (GRCm39) |
|
probably null |
Het |
| Chst3 |
T |
C |
10: 60,021,654 (GRCm39) |
T398A |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,425,625 (GRCm39) |
T478A |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,652 (GRCm39) |
L45P |
probably damaging |
Het |
| Defb21 |
A |
G |
2: 152,416,671 (GRCm39) |
E49G |
possibly damaging |
Het |
| Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,890,793 (GRCm39) |
S325P |
probably benign |
Het |
| Fam91a1 |
T |
C |
15: 58,314,720 (GRCm39) |
F534L |
probably damaging |
Het |
| Fermt2 |
T |
C |
14: 45,702,320 (GRCm39) |
E488G |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,726,462 (GRCm39) |
D719G |
possibly damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,281,013 (GRCm39) |
|
noncoding transcript |
Het |
| Glra3 |
C |
A |
8: 56,393,997 (GRCm39) |
A36E |
probably benign |
Het |
| Gm9884 |
T |
A |
1: 25,869,729 (GRCm39) |
|
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,546,770 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
A |
15: 91,651,542 (GRCm39) |
Y1733N |
probably damaging |
Het |
| Mindy1 |
T |
C |
3: 95,195,701 (GRCm39) |
L148P |
probably damaging |
Het |
| Mkrn2 |
C |
A |
6: 115,588,750 (GRCm39) |
Y164* |
probably null |
Het |
| Msra |
T |
C |
14: 64,447,884 (GRCm39) |
Y135C |
probably damaging |
Het |
| Ndst3 |
C |
T |
3: 123,342,565 (GRCm39) |
A749T |
probably damaging |
Het |
| Ngdn |
G |
T |
14: 55,254,571 (GRCm39) |
A41S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,288,722 (GRCm39) |
S597T |
probably damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
| Pabpc6 |
A |
G |
17: 9,886,899 (GRCm39) |
S551P |
probably benign |
Het |
| Plekhg5 |
C |
T |
4: 152,197,010 (GRCm39) |
A752V |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,068,274 (GRCm39) |
S368P |
probably benign |
Het |
| Pus7 |
A |
G |
5: 23,951,422 (GRCm39) |
|
probably null |
Het |
| Rad23b |
T |
C |
4: 55,366,774 (GRCm39) |
|
probably benign |
Het |
| Rgs13 |
T |
C |
1: 144,047,152 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
C |
4: 126,920,553 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
probably benign |
Het |
| Slco1a1 |
A |
G |
6: 141,878,256 (GRCm39) |
|
probably benign |
Het |
| Tmem26 |
A |
T |
10: 68,614,436 (GRCm39) |
N284Y |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,211,250 (GRCm39) |
I232V |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,818 (GRCm39) |
L1106P |
probably damaging |
Het |
| Vmn1r18 |
T |
C |
6: 57,366,652 (GRCm39) |
|
probably benign |
Het |
| Zfp213 |
G |
T |
17: 23,780,391 (GRCm39) |
A43D |
probably benign |
Het |
| Zfp365 |
A |
G |
10: 67,745,184 (GRCm39) |
V198A |
probably damaging |
Het |
| Zfp395 |
T |
A |
14: 65,632,200 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
G |
A |
4: 63,051,063 (GRCm39) |
V615M |
probably damaging |
Het |
|
| Other mutations in B4galnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00858:B4galnt1
|
APN |
10 |
127,003,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01087:B4galnt1
|
APN |
10 |
127,002,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation