Incidental Mutation 'R0126:B4galt3'
ID |
21341 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B4galt3
|
Ensembl Gene |
ENSMUSG00000052423 |
Gene Name |
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3 |
Synonyms |
ESTM26, 9530061M23Rik, beta4GalT-III, R74981 |
MMRRC Submission |
038411-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.454)
|
Stock # |
R0126 (G1)
|
Quality Score |
204 |
Status
|
Validated
(trace)
|
Chromosome |
1 |
Chromosomal Location |
171097898-171104468 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 171103738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 103
(T103M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000073120]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000192956]
[ENSMUST00000141999]
[ENSMUST00000151863]
[ENSMUST00000141114]
|
AlphaFold |
Q91YY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064272
AA Change: T325M
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000066353 Gene: ENSMUSG00000052423 AA Change: T325M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_7N
|
79 |
212 |
1.7e-59 |
PFAM |
Pfam:Glyco_transf_7C
|
217 |
294 |
6.3e-32 |
PFAM |
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073120
|
SMART Domains |
Protein: ENSMUSP00000072863 Gene: ENSMUSG00000062729
Domain | Start | End | E-Value | Type |
Pfam:NAD_binding_8
|
7 |
74 |
1.3e-9 |
PFAM |
Pfam:Amino_oxidase
|
12 |
471 |
1.7e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111313
AA Change: T325M
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106945 Gene: ENSMUSG00000052423 AA Change: T325M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_7N
|
79 |
214 |
2.1e-74 |
PFAM |
Pfam:Glyco_transf_7C
|
217 |
294 |
1.7e-31 |
PFAM |
Pfam:Glyco_tranf_2_2
|
238 |
298 |
1e-6 |
PFAM |
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125939
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126699
AA Change: T103M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141958 Gene: ENSMUSG00000052423 AA Change: T103M
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_7C
|
1 |
72 |
3.2e-28 |
PFAM |
Pfam:Glyco_tranf_2_2
|
16 |
76 |
2.1e-5 |
PFAM |
low complexity region
|
126 |
142 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126765
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192956
|
SMART Domains |
Protein: ENSMUSP00000141835 Gene: ENSMUSG00000062729
Domain | Start | End | E-Value | Type |
Pfam:NAD_binding_8
|
7 |
72 |
1.6e-7 |
PFAM |
Pfam:Amino_oxidase
|
12 |
389 |
4.7e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141999
|
SMART Domains |
Protein: ENSMUSP00000114926 Gene: ENSMUSG00000052423
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151863
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141114
|
SMART Domains |
Protein: ENSMUSP00000114560 Gene: ENSMUSG00000052423
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_7N
|
104 |
139 |
2.6e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.2%
- 20x: 81.8%
|
Validation Efficiency |
98% (102/104) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,333,742 (GRCm39) |
L1730P |
possibly damaging |
Het |
Adam9 |
T |
C |
8: 25,460,753 (GRCm39) |
N577S |
probably damaging |
Het |
Add1 |
T |
C |
5: 34,770,923 (GRCm39) |
Y316H |
probably benign |
Het |
Agpat3 |
T |
C |
10: 78,113,890 (GRCm39) |
D266G |
probably null |
Het |
Aldh3a2 |
C |
A |
11: 61,115,384 (GRCm39) |
Q524H |
probably benign |
Het |
Alox12b |
A |
C |
11: 69,058,297 (GRCm39) |
S550R |
probably benign |
Het |
Ano4 |
T |
A |
10: 88,788,154 (GRCm39) |
I753F |
possibly damaging |
Het |
AW011738 |
T |
A |
4: 156,288,104 (GRCm39) |
|
probably benign |
Het |
Cabs1 |
C |
T |
5: 88,128,054 (GRCm39) |
T235I |
probably damaging |
Het |
Casq2 |
A |
G |
3: 102,040,715 (GRCm39) |
H272R |
probably damaging |
Het |
Ccdc180 |
T |
C |
4: 45,912,866 (GRCm39) |
|
probably null |
Het |
Cdh12 |
A |
T |
15: 21,584,031 (GRCm39) |
M624L |
probably benign |
Het |
Cdh5 |
A |
C |
8: 104,867,314 (GRCm39) |
|
probably null |
Het |
Col7a1 |
A |
G |
9: 108,798,651 (GRCm39) |
|
probably benign |
Het |
Cpne2 |
A |
T |
8: 95,281,561 (GRCm39) |
I199F |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,901,927 (GRCm39) |
F2399L |
possibly damaging |
Het |
Defb36 |
T |
C |
2: 152,454,499 (GRCm39) |
C53R |
probably damaging |
Het |
Degs1 |
T |
C |
1: 182,107,257 (GRCm39) |
M1V |
probably null |
Het |
Disp2 |
T |
A |
2: 118,620,819 (GRCm39) |
F517Y |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,246,465 (GRCm39) |
D601G |
probably benign |
Het |
Dnpep |
G |
A |
1: 75,289,182 (GRCm39) |
Q310* |
probably null |
Het |
Dsg1a |
A |
G |
18: 20,473,935 (GRCm39) |
T1003A |
probably benign |
Het |
Fbrsl1 |
C |
G |
5: 110,543,906 (GRCm39) |
|
probably benign |
Het |
Foxh1 |
A |
T |
15: 76,553,454 (GRCm39) |
L116H |
probably damaging |
Het |
Gigyf2 |
G |
A |
1: 87,339,597 (GRCm39) |
|
probably benign |
Het |
Golm2 |
T |
C |
2: 121,736,565 (GRCm39) |
|
probably benign |
Het |
Gp1ba |
A |
T |
11: 70,531,859 (GRCm39) |
|
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,945,218 (GRCm39) |
|
probably benign |
Het |
Gucy2g |
T |
G |
19: 55,229,598 (GRCm39) |
D24A |
probably benign |
Het |
Hirip3 |
A |
G |
7: 126,462,614 (GRCm39) |
K190R |
probably damaging |
Het |
Hmmr |
T |
C |
11: 40,596,781 (GRCm39) |
N717D |
probably damaging |
Het |
Il12b |
A |
T |
11: 44,301,045 (GRCm39) |
Y187F |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,388,070 (GRCm39) |
I859T |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,055,105 (GRCm39) |
L175P |
probably damaging |
Het |
Klc2 |
T |
C |
19: 5,162,774 (GRCm39) |
M242V |
possibly damaging |
Het |
Klf3 |
T |
C |
5: 64,979,446 (GRCm39) |
M96T |
probably benign |
Het |
Lrrc66 |
G |
T |
5: 73,764,431 (GRCm39) |
H871N |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,222,528 (GRCm39) |
D168E |
probably benign |
Het |
Mak |
T |
C |
13: 41,186,072 (GRCm39) |
D532G |
probably damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,151 (GRCm39) |
M859T |
probably benign |
Het |
Meak7 |
T |
C |
8: 120,489,089 (GRCm39) |
D398G |
possibly damaging |
Het |
Mlxipl |
C |
A |
5: 135,161,177 (GRCm39) |
N365K |
probably damaging |
Het |
Mplkip |
T |
C |
13: 17,870,337 (GRCm39) |
S90P |
possibly damaging |
Het |
Myo5c |
A |
T |
9: 75,176,807 (GRCm39) |
H584L |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,901,719 (GRCm39) |
T228A |
possibly damaging |
Het |
Nxpe3 |
A |
T |
16: 55,686,592 (GRCm39) |
Y139N |
possibly damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or51f2 |
A |
G |
7: 102,526,347 (GRCm39) |
T7A |
probably benign |
Het |
Or8k40 |
T |
A |
2: 86,584,981 (GRCm39) |
I34L |
probably damaging |
Het |
Pak6 |
C |
T |
2: 118,520,813 (GRCm39) |
S268F |
possibly damaging |
Het |
Parp10 |
G |
A |
15: 76,127,266 (GRCm39) |
A57V |
probably damaging |
Het |
Pik3r3 |
T |
A |
4: 116,113,465 (GRCm39) |
D69E |
probably damaging |
Het |
Polr2a |
T |
G |
11: 69,638,251 (GRCm39) |
K105T |
probably damaging |
Het |
Prdm16 |
A |
T |
4: 154,413,295 (GRCm39) |
|
probably benign |
Het |
Prepl |
G |
A |
17: 85,390,670 (GRCm39) |
T96I |
probably benign |
Het |
Ret |
C |
T |
6: 118,142,956 (GRCm39) |
|
probably benign |
Het |
Rgl3 |
A |
T |
9: 21,887,108 (GRCm39) |
D541E |
probably benign |
Het |
Rpa1 |
A |
C |
11: 75,209,355 (GRCm39) |
Y143D |
probably benign |
Het |
Rps16 |
T |
A |
7: 28,050,508 (GRCm39) |
L47Q |
probably damaging |
Het |
Sbno2 |
A |
T |
10: 79,904,687 (GRCm39) |
|
probably null |
Het |
Scube1 |
A |
T |
15: 83,505,264 (GRCm39) |
N385K |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,585,092 (GRCm39) |
E31G |
probably damaging |
Het |
Slc38a9 |
G |
T |
13: 112,865,791 (GRCm39) |
C496F |
possibly damaging |
Het |
Snap47 |
A |
G |
11: 59,328,813 (GRCm39) |
V163A |
probably damaging |
Het |
Sntg2 |
T |
C |
12: 30,251,260 (GRCm39) |
|
probably benign |
Het |
Sp7 |
C |
A |
15: 102,266,895 (GRCm39) |
V322F |
probably damaging |
Het |
Spic |
T |
C |
10: 88,511,924 (GRCm39) |
K111E |
probably damaging |
Het |
Sqor |
T |
C |
2: 122,639,947 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
T |
A |
11: 116,657,410 (GRCm39) |
M385L |
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,873,511 (GRCm39) |
S1211T |
possibly damaging |
Het |
Sytl2 |
T |
A |
7: 90,045,797 (GRCm39) |
V638E |
probably damaging |
Het |
Taar1 |
T |
A |
10: 23,796,445 (GRCm39) |
S48T |
probably benign |
Het |
Tbx18 |
T |
A |
9: 87,611,706 (GRCm39) |
D108V |
possibly damaging |
Het |
Tdh |
C |
T |
14: 63,735,042 (GRCm39) |
|
probably benign |
Het |
Tlr9 |
T |
A |
9: 106,102,881 (GRCm39) |
L724Q |
probably benign |
Het |
Tmem270 |
T |
A |
5: 134,931,642 (GRCm39) |
Y100F |
probably benign |
Het |
Trim65 |
G |
C |
11: 116,015,430 (GRCm39) |
|
probably benign |
Het |
Trrap |
A |
T |
5: 144,742,560 (GRCm39) |
K1393* |
probably null |
Het |
Ttc13 |
A |
G |
8: 125,410,030 (GRCm39) |
V523A |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,587,219 (GRCm39) |
D939V |
probably benign |
Het |
Vmn1r46 |
G |
T |
6: 89,953,935 (GRCm39) |
M261I |
probably benign |
Het |
Vwa5a |
A |
G |
9: 38,649,103 (GRCm39) |
|
probably null |
Het |
Zfp108 |
A |
T |
7: 23,960,149 (GRCm39) |
T247S |
probably benign |
Het |
Zfp366 |
A |
T |
13: 99,365,129 (GRCm39) |
I97F |
probably benign |
Het |
Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
probably benign |
Het |
|
Other mutations in B4galt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02019:B4galt3
|
APN |
1 |
171,099,362 (GRCm39) |
missense |
probably damaging |
1.00 |
BB004:B4galt3
|
UTSW |
1 |
171,099,342 (GRCm39) |
nonsense |
probably null |
|
BB014:B4galt3
|
UTSW |
1 |
171,099,342 (GRCm39) |
nonsense |
probably null |
|
R0026:B4galt3
|
UTSW |
1 |
171,101,831 (GRCm39) |
unclassified |
probably benign |
|
R0537:B4galt3
|
UTSW |
1 |
171,101,821 (GRCm39) |
unclassified |
probably benign |
|
R1478:B4galt3
|
UTSW |
1 |
171,103,938 (GRCm39) |
missense |
probably benign |
0.11 |
R2012:B4galt3
|
UTSW |
1 |
171,100,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2207:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2223:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2353:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2354:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2438:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2439:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3039:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3051:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3709:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3710:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3741:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3742:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3813:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3953:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R4058:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R4059:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R4323:B4galt3
|
UTSW |
1 |
171,103,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4367:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R4368:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R4370:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R4371:B4galt3
|
UTSW |
1 |
171,101,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R4486:B4galt3
|
UTSW |
1 |
171,099,343 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4538:B4galt3
|
UTSW |
1 |
171,100,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R5557:B4galt3
|
UTSW |
1 |
171,100,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7313:B4galt3
|
UTSW |
1 |
171,100,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:B4galt3
|
UTSW |
1 |
171,099,342 (GRCm39) |
nonsense |
probably null |
|
R8222:B4galt3
|
UTSW |
1 |
171,100,253 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8552:B4galt3
|
UTSW |
1 |
171,101,917 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8804:B4galt3
|
UTSW |
1 |
171,103,947 (GRCm39) |
missense |
probably benign |
0.33 |
R8859:B4galt3
|
UTSW |
1 |
171,099,241 (GRCm39) |
missense |
unknown |
|
R9150:B4galt3
|
UTSW |
1 |
171,103,899 (GRCm39) |
missense |
probably benign |
|
R9265:B4galt3
|
UTSW |
1 |
171,101,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCCATTCACCCGACAGCAG -3'
(R):5'- ATCTAGCAGTGAGAAGAGGTCCCTG -3'
Sequencing Primer
(F):5'- CTACCTCTGTGGGACACTATAAG -3'
(R):5'- CAGTCTCATGATTACAGTGGGC -3'
|
Posted On |
2013-04-11 |