Incidental Mutation 'R4371:B4galt3'
ID |
325981 |
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 |
041117-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.454)
|
Stock # |
R4371 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171097898-171104468 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 171101613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 196
(H196N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000073120]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000141999]
[ENSMUST00000192956]
[ENSMUST00000141114]
[ENSMUST00000151863]
|
AlphaFold |
Q91YY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064272
AA Change: H196N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066353 Gene: ENSMUSG00000052423 AA Change: H196N
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: H196N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106945 Gene: ENSMUSG00000052423 AA Change: H196N
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 benign
Transcript: ENSMUST00000126699
|
SMART Domains |
Protein: ENSMUSP00000141958 Gene: ENSMUSG00000052423
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: ENSMUST00000132890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138904
|
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: 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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151863
|
Meta Mutation Damage Score |
0.5682 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Alox12b |
G |
A |
11: 69,060,442 (GRCm39) |
R666H |
possibly damaging |
Het |
Atp9a |
T |
C |
2: 168,491,535 (GRCm39) |
T677A |
probably damaging |
Het |
Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
C9 |
A |
G |
15: 6,520,965 (GRCm39) |
D470G |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,215,701 (GRCm39) |
F337L |
probably damaging |
Het |
Cep152 |
G |
A |
2: 125,454,967 (GRCm39) |
R278W |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
Chfr |
G |
A |
5: 110,284,034 (GRCm39) |
R36H |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,763,818 (GRCm39) |
|
probably null |
Het |
Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Gm6177 |
A |
T |
1: 160,720,741 (GRCm39) |
|
noncoding transcript |
Het |
Hepacam2 |
A |
T |
6: 3,486,988 (GRCm39) |
V123E |
probably damaging |
Het |
Iqsec1 |
A |
G |
6: 90,671,588 (GRCm39) |
S194P |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,210,251 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
A |
T |
1: 60,329,105 (GRCm39) |
K2174N |
possibly damaging |
Het |
Ncapg |
G |
A |
5: 45,835,797 (GRCm39) |
M409I |
probably benign |
Het |
Ocstamp |
A |
G |
2: 165,239,233 (GRCm39) |
S318P |
possibly damaging |
Het |
Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
Pom121l2 |
T |
C |
13: 22,166,409 (GRCm39) |
S227P |
probably benign |
Het |
Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
Sptbn5 |
A |
G |
2: 119,896,475 (GRCm39) |
C729R |
probably damaging |
Het |
Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
Tfap4 |
A |
G |
16: 4,369,863 (GRCm39) |
I4T |
probably damaging |
Het |
Thrb |
C |
A |
14: 18,030,275 (GRCm38) |
Q340K |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,888,588 (GRCm39) |
Y1735C |
probably damaging |
Het |
Ubr1 |
A |
T |
2: 120,725,547 (GRCm39) |
|
probably null |
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 |
|
R0126:B4galt3
|
UTSW |
1 |
171,103,738 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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'- GCTTGGGTGCTCTCTTCACT -3'
(R):5'- TCCGCCAAAGTACTGGGG -3'
Sequencing Primer
(F):5'- GGGTGCTCTCTTCACTTTGGC -3'
(R):5'- AGATCCCTGCGGTTCACAAATTTG -3'
|
Posted On |
2015-07-06 |