Incidental Mutation 'R5557:B4galt3'
| ID |
435427 |
| 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 |
043114-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.454)
|
| Stock # |
R5557 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171097898-171104468 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 171100089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000073120]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000126699]
[ENSMUST00000141114]
[ENSMUST00000141114]
[ENSMUST00000151863]
[ENSMUST00000151863]
[ENSMUST00000141999]
[ENSMUST00000192956]
|
| AlphaFold |
Q91YY2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064272
|
| SMART Domains |
Protein: ENSMUSP00000066353
Gene: ENSMUSG00000052423
| 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 null
Transcript: ENSMUST00000111313
|
| SMART Domains |
Protein: ENSMUSP00000106945
Gene: ENSMUSG00000052423
| 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 null
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 |
probably null
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: ENSMUST00000129985
|
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000151863
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138904
|
| Predicted Effect |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9504 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (72/72) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,767,501 (GRCm39) |
F363I |
possibly damaging |
Het |
| Abcb1a |
T |
A |
5: 8,764,949 (GRCm39) |
N646K |
probably benign |
Het |
| Abi2 |
C |
A |
1: 60,478,071 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,863,651 (GRCm39) |
S35P |
probably benign |
Het |
| Bag5 |
T |
C |
12: 111,676,524 (GRCm39) |
N433S |
probably benign |
Het |
| Birc7 |
T |
A |
2: 180,574,772 (GRCm39) |
V218D |
probably benign |
Het |
| Catsperg1 |
T |
G |
7: 28,895,296 (GRCm39) |
N332T |
possibly damaging |
Het |
| Ccdc191 |
A |
C |
16: 43,728,976 (GRCm39) |
T179P |
probably damaging |
Het |
| Col4a3 |
C |
T |
1: 82,692,968 (GRCm39) |
|
probably benign |
Het |
| Crlf1 |
A |
G |
8: 70,951,317 (GRCm39) |
I65M |
probably benign |
Het |
| Dennd4a |
T |
G |
9: 64,811,509 (GRCm39) |
D1376E |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dlg4 |
C |
T |
11: 69,933,106 (GRCm39) |
P504L |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,560,819 (GRCm39) |
T886A |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,321,667 (GRCm39) |
V4394E |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,393,186 (GRCm39) |
M112T |
possibly damaging |
Het |
| Eps8 |
T |
C |
6: 137,456,094 (GRCm39) |
M796V |
possibly damaging |
Het |
| Fam107b |
T |
A |
2: 3,771,791 (GRCm39) |
Y7* |
probably null |
Het |
| Farsb |
C |
T |
1: 78,445,888 (GRCm39) |
|
probably null |
Het |
| Fasn |
A |
G |
11: 120,703,252 (GRCm39) |
M1591T |
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,248,731 (GRCm39) |
A384T |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,489,564 (GRCm39) |
D349G |
probably damaging |
Het |
| Glis3 |
G |
T |
19: 28,241,409 (GRCm39) |
H842N |
probably benign |
Het |
| Gm17067 |
G |
A |
7: 42,357,945 (GRCm39) |
P186S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,159,888 (GRCm39) |
L362* |
probably null |
Het |
| Ing3 |
A |
G |
6: 21,968,908 (GRCm39) |
H130R |
possibly damaging |
Het |
| Inpp4b |
A |
T |
8: 82,678,888 (GRCm39) |
Q306L |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,776,690 (GRCm39) |
K66E |
probably benign |
Het |
| Kif21b |
C |
A |
1: 136,097,797 (GRCm39) |
N1352K |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,808,003 (GRCm39) |
N84Y |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,589,884 (GRCm39) |
Y55* |
probably null |
Het |
| Mmachc |
T |
C |
4: 116,563,097 (GRCm39) |
H86R |
probably damaging |
Het |
| Ncbp1 |
T |
C |
4: 46,165,259 (GRCm39) |
V524A |
probably benign |
Het |
| Or10ag54 |
A |
T |
2: 87,099,736 (GRCm39) |
T204S |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,358 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c102 |
G |
A |
2: 88,422,897 (GRCm39) |
V250M |
probably damaging |
Het |
| Or5af1 |
G |
A |
11: 58,722,813 (GRCm39) |
V278I |
probably benign |
Het |
| Or5b101 |
C |
A |
19: 13,005,004 (GRCm39) |
A230S |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,466 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pigu |
G |
T |
2: 155,120,549 (GRCm39) |
Y404* |
probably null |
Het |
| Plaa |
A |
T |
4: 94,472,244 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
T |
8: 118,313,296 (GRCm39) |
I487F |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,867,580 (GRCm39) |
I162T |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,001,000 (GRCm39) |
V1030D |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,993,336 (GRCm39) |
S505R |
probably benign |
Het |
| Samd7 |
A |
T |
3: 30,810,769 (GRCm39) |
Q262L |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,377,447 (GRCm39) |
N412Y |
probably damaging |
Het |
| Sytl1 |
C |
A |
4: 132,986,667 (GRCm39) |
R91M |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,555,244 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
A |
G |
14: 55,943,100 (GRCm39) |
M580T |
probably benign |
Het |
| Themis |
A |
T |
10: 28,657,882 (GRCm39) |
Q150L |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,086,466 (GRCm39) |
S41P |
possibly damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,894,144 (GRCm39) |
V695A |
probably damaging |
Het |
| Trim23 |
A |
T |
13: 104,324,017 (GRCm39) |
T159S |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,082,944 (GRCm39) |
Y166C |
probably benign |
Het |
| Troap |
A |
T |
15: 98,973,675 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,720,734 (GRCm39) |
|
probably null |
Het |
| Tub |
T |
G |
7: 108,624,925 (GRCm39) |
S180A |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,851,231 (GRCm39) |
V1243A |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,942 (GRCm39) |
D215G |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,944,345 (GRCm39) |
V1021E |
probably damaging |
Het |
| Zim1 |
T |
A |
7: 6,680,710 (GRCm39) |
I318F |
probably damaging |
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 |
|
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 |
|
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'- GCTTCCAGGAACAGTCTTCATG -3'
(R):5'- TGGATGACATAAATGCCGTACG -3'
Sequencing Primer
(F):5'- TCTTCATGACGGGAAATCTGAGGC -3'
(R):5'- CTGGCGCTGCAGGAAAG -3'
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| Posted On |
2016-10-24 |
Incidental Mutation