Incidental Mutation 'R4419:B4galt1'
ID |
326989 |
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 |
041140-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4419 (G1)
|
Quality Score |
135 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
40804602-40854005 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40853537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 90
(V90A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030121]
[ENSMUST00000108096]
|
AlphaFold |
P15535 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030121
AA Change: V90A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030121 Gene: ENSMUSG00000028413 AA Change: V90A
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
AA Change: V90A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103731 Gene: ENSMUSG00000028413 AA Change: V90A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177794
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179159
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amdhd2 |
G |
A |
17: 24,377,652 (GRCm39) |
P126L |
probably benign |
Het |
Arfip2 |
T |
C |
7: 105,288,270 (GRCm39) |
T44A |
probably damaging |
Het |
Bad |
C |
A |
19: 6,928,053 (GRCm39) |
A115E |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,782,804 (GRCm39) |
L521P |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,683 (GRCm39) |
S824P |
probably damaging |
Het |
Cblb |
T |
A |
16: 51,867,621 (GRCm39) |
D76E |
possibly damaging |
Het |
Celsr3 |
G |
T |
9: 108,720,443 (GRCm39) |
A2572S |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,567,707 (GRCm39) |
Q2152R |
probably damaging |
Het |
D2hgdh |
T |
A |
1: 93,757,535 (GRCm39) |
V150E |
probably damaging |
Het |
Ddn |
C |
A |
15: 98,703,492 (GRCm39) |
W600L |
probably benign |
Het |
Dicer1 |
A |
T |
12: 104,671,373 (GRCm39) |
Y966N |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,379,108 (GRCm39) |
I1352N |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
Dysf |
T |
C |
6: 84,184,224 (GRCm39) |
|
probably null |
Het |
Elmo2 |
T |
C |
2: 165,153,675 (GRCm39) |
|
probably null |
Het |
Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Ky |
G |
A |
9: 102,419,909 (GRCm39) |
V639I |
probably damaging |
Het |
Med16 |
G |
A |
10: 79,734,216 (GRCm39) |
A566V |
probably benign |
Het |
Mettl17 |
G |
T |
14: 52,124,729 (GRCm39) |
G167C |
possibly damaging |
Het |
Mgat4b |
T |
C |
11: 50,123,813 (GRCm39) |
F318L |
probably damaging |
Het |
Mug2 |
C |
A |
6: 122,056,589 (GRCm39) |
A1178D |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,926,706 (GRCm39) |
D51G |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,297,133 (GRCm39) |
N968D |
probably benign |
Het |
Nbea |
T |
C |
3: 55,917,021 (GRCm39) |
H820R |
probably damaging |
Het |
Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
Or10ak7 |
A |
T |
4: 118,791,586 (GRCm39) |
I153N |
possibly damaging |
Het |
Or6c68 |
T |
C |
10: 129,157,684 (GRCm39) |
F64S |
possibly damaging |
Het |
Or8b51 |
C |
T |
9: 38,569,365 (GRCm39) |
V108I |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,652,044 (GRCm39) |
D218G |
probably damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Scn3a |
C |
A |
2: 65,297,304 (GRCm39) |
G1452C |
probably damaging |
Het |
Slc22a2 |
C |
A |
17: 12,831,473 (GRCm39) |
S421* |
probably null |
Het |
Slc39a10 |
A |
G |
1: 46,849,226 (GRCm39) |
F797L |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,074,990 (GRCm39) |
Y2405* |
probably null |
Het |
Ss18 |
A |
G |
18: 14,766,662 (GRCm39) |
Y359H |
unknown |
Het |
St14 |
C |
T |
9: 31,008,224 (GRCm39) |
C537Y |
probably damaging |
Het |
Tmem252 |
T |
A |
19: 24,654,910 (GRCm39) |
Y96N |
probably damaging |
Het |
Trafd1 |
T |
C |
5: 121,511,396 (GRCm39) |
D474G |
probably benign |
Het |
Trmt1l |
A |
G |
1: 151,316,559 (GRCm39) |
I20M |
probably damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn1r43 |
A |
G |
6: 89,846,629 (GRCm39) |
S286P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATCCGAGGAGTCCACGTC -3'
(R):5'- AGGTTTCGTGAGCAGTTCC -3'
Sequencing Primer
(F):5'- AGGAGTCCACGTCCTCAGATC -3'
(R):5'- TCGTGAGCAGTTCCTGGGC -3'
|
Posted On |
2015-07-07 |