Incidental Mutation 'R7887:B4galt1'
ID |
609103 |
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 |
045939-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7887 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
40804602-40854005 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40823501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 197
(Y197H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030121]
[ENSMUST00000108096]
|
AlphaFold |
P15535 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030121
AA Change: Y197H
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000030121 Gene: ENSMUSG00000028413 AA Change: Y197H
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 |
possibly damaging
Transcript: ENSMUST00000108096
AA Change: Y197H
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103731 Gene: ENSMUSG00000028413 AA Change: Y197H
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (48/49) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh8 |
T |
A |
9: 3,385,343 (GRCm39) |
I580N |
probably damaging |
Het |
Ankrd35 |
C |
T |
3: 96,592,216 (GRCm39) |
T834M |
probably damaging |
Het |
Astn2 |
C |
T |
4: 65,563,103 (GRCm39) |
V893I |
possibly damaging |
Het |
Brdt |
T |
C |
5: 107,507,799 (GRCm39) |
S676P |
possibly damaging |
Het |
Chrdl2 |
T |
C |
7: 99,678,457 (GRCm39) |
V343A |
possibly damaging |
Het |
Clcn3 |
A |
T |
8: 61,394,433 (GRCm39) |
M59K |
probably benign |
Het |
Cpne4 |
A |
T |
9: 104,909,990 (GRCm39) |
N529I |
probably damaging |
Het |
Crcp |
G |
T |
5: 130,066,711 (GRCm39) |
K32N |
possibly damaging |
Het |
Ddx54 |
C |
T |
5: 120,765,268 (GRCm39) |
R846C |
probably damaging |
Het |
Dennd6a |
T |
C |
14: 26,320,812 (GRCm39) |
S118P |
possibly damaging |
Het |
Egr3 |
A |
G |
14: 70,316,651 (GRCm39) |
Y116C |
probably damaging |
Het |
Fbxw25 |
A |
G |
9: 109,478,662 (GRCm39) |
|
probably null |
Het |
Focad |
T |
G |
4: 88,100,853 (GRCm39) |
I313M |
probably damaging |
Het |
Gm10272 |
C |
T |
10: 77,542,779 (GRCm39) |
P107L |
probably benign |
Het |
Gpr26 |
A |
C |
7: 131,568,702 (GRCm39) |
I16L |
probably benign |
Het |
Gpr39 |
C |
A |
1: 125,605,279 (GRCm39) |
T69K |
probably damaging |
Het |
Hacl1 |
C |
T |
14: 31,356,184 (GRCm39) |
G97S |
probably damaging |
Het |
Idh3b |
A |
C |
2: 130,123,678 (GRCm39) |
D136E |
probably damaging |
Het |
Irf6 |
G |
A |
1: 192,850,040 (GRCm39) |
V321M |
probably damaging |
Het |
Klrg2 |
T |
A |
6: 38,613,506 (GRCm39) |
T166S |
probably damaging |
Het |
Lnx2 |
T |
C |
5: 146,955,853 (GRCm39) |
I648V |
probably damaging |
Het |
Mecr |
A |
G |
4: 131,588,177 (GRCm39) |
|
probably null |
Het |
Mnat1 |
T |
A |
12: 73,234,965 (GRCm39) |
S205T |
probably benign |
Het |
Mpnd |
G |
A |
17: 56,318,097 (GRCm39) |
G204D |
probably benign |
Het |
Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
Nid1 |
G |
T |
13: 13,674,318 (GRCm39) |
R899L |
possibly damaging |
Het |
Nisch |
C |
T |
14: 30,898,652 (GRCm39) |
W664* |
probably null |
Het |
Nudt6 |
C |
T |
3: 37,466,529 (GRCm39) |
V157I |
possibly damaging |
Het |
Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
Or51h7 |
A |
C |
7: 102,591,358 (GRCm39) |
L142R |
possibly damaging |
Het |
Or5l13 |
T |
C |
2: 87,780,224 (GRCm39) |
M118V |
probably damaging |
Het |
Or8g31-ps1 |
A |
T |
9: 39,276,175 (GRCm39) |
M107L |
unknown |
Het |
Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
Phf11d |
A |
G |
14: 59,597,029 (GRCm39) |
Y57H |
probably damaging |
Het |
Prkaca |
T |
C |
8: 84,713,524 (GRCm39) |
V99A |
probably benign |
Het |
Rnf144b |
T |
A |
13: 47,393,287 (GRCm39) |
C209S |
probably damaging |
Het |
Scly |
G |
A |
1: 91,228,363 (GRCm39) |
|
probably null |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Sphkap |
T |
C |
1: 83,255,133 (GRCm39) |
Y872C |
probably benign |
Het |
Ssh1 |
C |
T |
5: 114,099,410 (GRCm39) |
|
probably null |
Het |
Strap |
T |
G |
6: 137,716,807 (GRCm39) |
L129V |
possibly damaging |
Het |
Sympk |
T |
C |
7: 18,768,364 (GRCm39) |
I111T |
possibly damaging |
Het |
Tprn |
C |
A |
2: 25,154,024 (GRCm39) |
A442E |
probably damaging |
Het |
Tsen34 |
T |
C |
7: 3,697,707 (GRCm39) |
L36P |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,135,121 (GRCm39) |
F818L |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,247,115 (GRCm39) |
Y294C |
probably damaging |
Het |
Usp20 |
A |
G |
2: 30,910,906 (GRCm39) |
K862E |
probably benign |
Het |
Vmn1r201 |
A |
T |
13: 22,658,956 (GRCm39) |
I57F |
probably damaging |
Het |
Wdr64 |
C |
T |
1: 175,613,111 (GRCm39) |
A662V |
not run |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACCGCTTGGCACTTAGCTC -3'
(R):5'- CTAGTTGGCCCCATGCTGATTG -3'
Sequencing Primer
(F):5'- CGCTGCACTGTTTAAAGGAC -3'
(R):5'- CCCATGCTGATTGACTTTAATATTGC -3'
|
Posted On |
2019-12-20 |