Incidental Mutation 'R6878:B4galt1'
| ID |
536502 |
| 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 |
044974-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6878 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
40804602-40854005 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40809694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 316
(D316G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030121]
[ENSMUST00000108096]
|
| AlphaFold |
P15535 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030121
AA Change: D316G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413
AA Change: D316G
| 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: D316G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413
AA Change: D316G
| 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 |
|
| Meta Mutation Damage Score |
0.9688 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,581,613 (GRCm39) |
N4810K |
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,360,465 (GRCm39) |
I397F |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
| Asl |
A |
G |
5: 130,053,133 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
A |
19: 6,300,208 (GRCm39) |
L672Q |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,717,832 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,070,519 (GRCm39) |
I18V |
probably benign |
Het |
| Cd47 |
A |
G |
16: 49,731,232 (GRCm39) |
E278G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,187,129 (GRCm39) |
G1075S |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,934,537 (GRCm39) |
V604A |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,163,197 (GRCm39) |
R1454* |
probably null |
Het |
| Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
GCA |
GCACCA |
10: 100,177,377 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
CAG |
CAGAAG |
10: 100,177,369 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
C |
12: 73,975,055 (GRCm39) |
M147T |
possibly damaging |
Het |
| Hps5 |
C |
G |
7: 46,433,058 (GRCm39) |
A221P |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,587,431 (GRCm39) |
S67P |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,000,202 (GRCm39) |
N568I |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,302,712 (GRCm39) |
S375P |
possibly damaging |
Het |
| Mfsd6 |
G |
T |
1: 52,747,912 (GRCm39) |
Q318K |
probably damaging |
Het |
| Mis18a |
A |
T |
16: 90,518,644 (GRCm39) |
I106N |
probably damaging |
Het |
| Myl2 |
T |
C |
5: 122,243,140 (GRCm39) |
I148T |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,193,842 (GRCm39) |
Q730R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,325,708 (GRCm39) |
L560P |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,467,899 (GRCm39) |
T285A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,954,120 (GRCm39) |
D547V |
probably benign |
Het |
| Obox2 |
G |
T |
7: 15,131,245 (GRCm39) |
S117I |
probably benign |
Het |
| Or8k32 |
A |
G |
2: 86,369,109 (GRCm39) |
L48P |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,175,656 (GRCm39) |
N226K |
possibly damaging |
Het |
| Pcdha3 |
T |
A |
18: 37,080,416 (GRCm39) |
L386* |
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,142,417 (GRCm39) |
F1323S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,594,936 (GRCm39) |
V2771A |
probably benign |
Het |
| Prl7c1 |
T |
C |
13: 27,962,827 (GRCm39) |
T59A |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,851,257 (GRCm39) |
T20A |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,301 (GRCm39) |
E1629G |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,608,657 (GRCm39) |
L235Q |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,505,511 (GRCm39) |
I91F |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,810,386 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Speer4f2 |
T |
G |
5: 17,580,765 (GRCm39) |
M114R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,370,388 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tbl1xr1 |
T |
G |
3: 22,257,368 (GRCm39) |
N410K |
possibly damaging |
Het |
| Tmed7 |
A |
T |
18: 46,726,532 (GRCm39) |
D74E |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,068,001 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,863 (GRCm39) |
V337A |
probably benign |
Het |
| Yy1 |
C |
G |
12: 108,780,682 (GRCm39) |
P352A |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,108,406 (GRCm39) |
L56F |
possibly damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,529 (GRCm39) |
I457T |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGCTAGCACCTGTCAG -3'
(R):5'- AACCATTGTGATTCAGGGTTGG -3'
Sequencing Primer
(F):5'- TAGCACCTGTCAGGCCTACAG -3'
(R):5'- GGTCTACACAGTGAATTCTAGGCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation