Incidental Mutation 'R8330:B4galt1'
| ID |
644298 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
067799-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
40804602-40854005 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40812787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
| 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: V246A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413
AA Change: V246A
| 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 damaging
Transcript: ENSMUST00000108096
AA Change: V246A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413
AA Change: V246A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,381,750 (GRCm39) |
D1405V |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,236,034 (GRCm39) |
I514V |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,987,026 (GRCm39) |
V2770A |
possibly damaging |
Het |
| Cdr2l |
T |
C |
11: 115,284,939 (GRCm39) |
V425A |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,816,501 (GRCm39) |
D1814V |
probably damaging |
Het |
| Exoc2 |
A |
G |
13: 31,061,556 (GRCm39) |
V495A |
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,986,637 (GRCm39) |
T135A |
possibly damaging |
Het |
| Klhl23 |
T |
C |
2: 69,654,496 (GRCm39) |
V122A |
probably damaging |
Het |
| Klri2 |
T |
A |
6: 129,710,694 (GRCm39) |
N142Y |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,509,692 (GRCm39) |
F3161L |
probably null |
Het |
| Mgl2 |
A |
G |
11: 70,026,785 (GRCm39) |
T144A |
probably benign |
Het |
| Mpp3 |
T |
C |
11: 101,899,453 (GRCm39) |
E356G |
probably benign |
Het |
| Neb |
T |
G |
2: 52,117,420 (GRCm39) |
T872P |
|
Het |
| Nek9 |
A |
G |
12: 85,376,727 (GRCm39) |
M218T |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,468,046 (GRCm39) |
L105H |
probably damaging |
Het |
| Or4f14 |
A |
G |
2: 111,742,724 (GRCm39) |
F184L |
probably benign |
Het |
| Or51k2 |
T |
G |
7: 103,596,610 (GRCm39) |
I279S |
possibly damaging |
Het |
| Pabpc1l |
G |
A |
2: 163,869,568 (GRCm39) |
G123R |
probably damaging |
Het |
| Parp3 |
T |
C |
9: 106,352,069 (GRCm39) |
|
probably null |
Het |
| Pcdhga1 |
A |
T |
18: 37,796,376 (GRCm39) |
Y460F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,311 (GRCm39) |
T1390A |
unknown |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,023,060 (GRCm39) |
L212P |
possibly damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Ppib |
T |
C |
9: 65,968,755 (GRCm39) |
F48L |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,793,583 (GRCm39) |
E1228G |
probably benign |
Het |
| Ptpdc1 |
G |
T |
13: 48,751,390 (GRCm39) |
H37N |
probably benign |
Het |
| Rab31 |
A |
T |
17: 66,003,269 (GRCm39) |
I126N |
possibly damaging |
Het |
| Rsad2 |
A |
T |
12: 26,506,405 (GRCm39) |
V5E |
probably benign |
Het |
| S1pr3 |
G |
A |
13: 51,573,173 (GRCm39) |
S118N |
probably damaging |
Het |
| Sbsn |
T |
A |
7: 30,451,366 (GRCm39) |
I127N |
possibly damaging |
Het |
| Scart2 |
C |
T |
7: 139,876,231 (GRCm39) |
Q568* |
probably null |
Het |
| Selenoh |
G |
T |
2: 84,500,691 (GRCm39) |
Q50K |
probably damaging |
Het |
| Simc1 |
GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
13: 54,673,177 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,841,515 (GRCm39) |
I487L |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,085,162 (GRCm39) |
I874F |
possibly damaging |
Het |
| Tmem43 |
T |
C |
6: 91,455,746 (GRCm39) |
V119A |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,007,550 (GRCm39) |
W509R |
probably damaging |
Het |
| Xpr1 |
A |
C |
1: 155,189,001 (GRCm39) |
Y290* |
probably null |
Het |
| Zfp160 |
T |
C |
17: 21,246,313 (GRCm39) |
C288R |
probably damaging |
Het |
| Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
probably damaging |
Het |
|
| Other mutations in B4galt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01795:B4galt1
|
APN |
4 |
40,807,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACTATTTCTCAGAAGTGGTG -3'
(R):5'- AATGGCCATGTGTCACAGAC -3'
Sequencing Primer
(F):5'- AACTATTTCTCAGAAGTGGTGGTCTC -3'
(R):5'- AGACCCAGTCCTTGTGAGTGATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation