Incidental Mutation 'IGL01795:B4galt1'
| ID |
155309 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B4galt1
|
| Ensembl Gene |
ENSMUSG00000028413 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 |
| Synonyms |
beta-1,4-GalT1, beta 1,4-Galactosyltransferase I, b1,4-Galactosyltransferase I, GalT, Ggtb2, B-1,4-GalT1, Ggtb |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
40804602-40854005 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40807760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 347
(D347V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030121]
[ENSMUST00000108096]
|
| AlphaFold |
P15535 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030121
AA Change: D347V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413
AA Change: D347V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
131 |
264 |
3.1e-62 |
PFAM |
|
Pfam:Glyco_transf_7C
|
268 |
346 |
5.9e-32 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
279 |
339 |
4.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108096
|
| SMART Domains |
Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
131 |
266 |
1.8e-52 |
PFAM |
|
Pfam:Glyco_transf_7C
|
268 |
328 |
8.7e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes two distinct enzyme isoforms, a long membrane-bound form and a short soluble form. These alternate isoforms are thought to be produced through alternative nested transcription initiation and different in-frame start codon usage. These enzymes catalyze the transfer of galactose to acceptor sugars, such as N-acetylglucosamine and glucose. The long form of this enzyme is localized to the trans-Golgi membrane and is involved in glycoconjugate biosynthesis. The short form functions in lactose biosynthesis though formation of a heterodimer with alpha-lactalbumin. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit growth retardation, low viability, excessive epithelial cell proliferation of skin and small intestine, sperm with reduced fertilizing capacity, birthing difficulty, and mammary gland defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,217,753 (GRCm39) |
I1562K |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,152,175 (GRCm39) |
R646S |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,764,149 (GRCm39) |
L127* |
probably null |
Het |
| Cd109 |
A |
G |
9: 78,569,047 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,803,294 (GRCm39) |
V2128A |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,108 (GRCm39) |
I376F |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,076,167 (GRCm39) |
S275P |
probably damaging |
Het |
| Dnaaf8 |
T |
G |
16: 4,791,935 (GRCm39) |
|
noncoding transcript |
Het |
| Erap1 |
T |
A |
13: 74,814,209 (GRCm39) |
|
probably null |
Het |
| F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,925,904 (GRCm39) |
V3703F |
probably damaging |
Het |
| Hmmr |
C |
T |
11: 40,612,561 (GRCm39) |
M185I |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,403,733 (GRCm39) |
Y8C |
probably damaging |
Het |
| Krt16 |
A |
G |
11: 100,138,550 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,050,749 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
C |
T |
1: 127,396,968 (GRCm39) |
R572W |
probably damaging |
Het |
| Neil2 |
T |
C |
14: 63,426,199 (GRCm39) |
D57G |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,651,869 (GRCm39) |
T736A |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,731 (GRCm39) |
M46L |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,478 (GRCm39) |
I98N |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,215 (GRCm39) |
I74F |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,989,189 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,308 (GRCm39) |
S1224P |
probably benign |
Het |
| Slc44a2 |
A |
C |
9: 21,256,645 (GRCm39) |
K336Q |
probably damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,908,501 (GRCm39) |
T1754I |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,390 (GRCm39) |
S596G |
probably benign |
Het |
|
| Other mutations in B4galt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
periwinkle
|
UTSW |
4 |
40,807,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:B4galt1
|
UTSW |
4 |
40,823,575 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3797:B4galt1
|
UTSW |
4 |
40,807,258 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4419:B4galt1
|
UTSW |
4 |
40,853,537 (GRCm39) |
missense |
probably benign |
|
|
R4703:B4galt1
|
UTSW |
4 |
40,823,569 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4727:B4galt1
|
UTSW |
4 |
40,807,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5706:B4galt1
|
UTSW |
4 |
40,807,268 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5903:B4galt1
|
UTSW |
4 |
40,807,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:B4galt1
|
UTSW |
4 |
40,807,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6878:B4galt1
|
UTSW |
4 |
40,809,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6943:B4galt1
|
UTSW |
4 |
40,812,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7239:B4galt1
|
UTSW |
4 |
40,812,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:B4galt1
|
UTSW |
4 |
40,823,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:B4galt1
|
UTSW |
4 |
40,809,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7887:B4galt1
|
UTSW |
4 |
40,823,501 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7923:B4galt1
|
UTSW |
4 |
40,809,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8330:B4galt1
|
UTSW |
4 |
40,812,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:B4galt1
|
UTSW |
4 |
40,807,243 (GRCm39) |
missense |
probably benign |
|
|
R9450:B4galt1
|
UTSW |
4 |
40,853,804 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R9574:B4galt1
|
UTSW |
4 |
40,853,766 (GRCm39) |
missense |
probably benign |
|
|
R9705:B4galt1
|
UTSW |
4 |
40,853,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-02-04 |
Incidental Mutation