Incidental Mutation 'IGL01087:B4galnt1'
| ID |
52076 |
| 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 # |
IGL01087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127001094-127008199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127002060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 63
(I63F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006914]
[ENSMUST00000217678]
|
| AlphaFold |
Q09200 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006914
AA Change: I63F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731
AA Change: I63F
| 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 damaging
Transcript: ENSMUST00000217678
AA Change: I63F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220055
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
T |
6: 83,139,770 (GRCm39) |
|
probably null |
Het |
| Abca6 |
C |
A |
11: 110,082,476 (GRCm39) |
A1166S |
probably benign |
Het |
| Arhgdib |
C |
A |
6: 136,910,622 (GRCm39) |
K46N |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,209 (GRCm39) |
V2507D |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,201,056 (GRCm39) |
D394G |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,915,763 (GRCm39) |
D442G |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,652,607 (GRCm39) |
L492H |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chsy1 |
T |
G |
7: 65,821,874 (GRCm39) |
V703G |
possibly damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,311 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
T |
C |
7: 80,248,487 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,485,978 (GRCm39) |
T342A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,989,846 (GRCm39) |
D631G |
probably damaging |
Het |
| Eif3b |
T |
C |
5: 140,426,862 (GRCm39) |
I706T |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,055,549 (GRCm39) |
L713P |
probably damaging |
Het |
| I830077J02Rik |
C |
A |
3: 105,836,049 (GRCm39) |
|
probably null |
Het |
| Jmjd8 |
A |
C |
17: 26,048,145 (GRCm39) |
|
probably benign |
Het |
| Kmt5a |
T |
C |
5: 124,589,443 (GRCm39) |
|
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,329,706 (GRCm39) |
C486F |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,354,417 (GRCm39) |
N470K |
probably damaging |
Het |
| Med1 |
C |
A |
11: 98,071,111 (GRCm39) |
D79Y |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,573,261 (GRCm39) |
S189P |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,697,361 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Nipbl |
C |
A |
15: 8,379,981 (GRCm39) |
S937I |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,353,858 (GRCm38) |
|
noncoding transcript |
Het |
| Nutm2 |
A |
G |
13: 50,623,665 (GRCm39) |
T121A |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,405,815 (GRCm39) |
P127S |
probably damaging |
Het |
| Or2h1b |
C |
T |
17: 37,462,332 (GRCm39) |
C177Y |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,178,464 (GRCm39) |
I574F |
possibly damaging |
Het |
| Pcnx1 |
G |
A |
12: 82,042,113 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,138,328 (GRCm39) |
T136A |
probably benign |
Het |
| Prph2 |
A |
G |
17: 47,222,085 (GRCm39) |
T155A |
probably damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,012,539 (GRCm39) |
K296E |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,708 (GRCm39) |
I128N |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,582,660 (GRCm39) |
N156K |
possibly damaging |
Het |
| Trem2 |
C |
T |
17: 48,658,956 (GRCm39) |
T222I |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,735,580 (GRCm39) |
F872L |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,783,349 (GRCm39) |
S3393T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,669 (GRCm39) |
S304T |
probably benign |
Het |
| Zc3h7a |
T |
C |
16: 10,971,046 (GRCm39) |
T328A |
probably benign |
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 |
|
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 |
2013-06-21 |
Incidental Mutation