Incidental Mutation 'R3709:B4galt3'
| ID |
259469 |
| 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 |
040702-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.454)
|
| Stock # |
R3709 (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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
G |
11: 48,910,480 (GRCm39) |
D651A |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,788,738 (GRCm39) |
N1039S |
probably benign |
Het |
| Abcc2 |
G |
T |
19: 43,786,885 (GRCm39) |
V169F |
possibly damaging |
Het |
| Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
| Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
| Armc8 |
A |
G |
9: 99,402,550 (GRCm39) |
I333T |
probably damaging |
Het |
| Ccdc92b |
C |
A |
11: 74,528,933 (GRCm39) |
R146S |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,381,009 (GRCm39) |
S2804P |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
| Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
| Ctdp1 |
G |
A |
18: 80,493,428 (GRCm39) |
Q356* |
probably null |
Het |
| Cyp2c69 |
A |
G |
19: 39,839,667 (GRCm39) |
|
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,620,281 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,223,815 (GRCm39) |
W1054R |
probably damaging |
Het |
| Gfral |
G |
A |
9: 76,100,725 (GRCm39) |
R238* |
probably null |
Het |
| Gm10322 |
C |
A |
10: 59,451,941 (GRCm39) |
D19E |
possibly damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
C |
9: 54,493,810 (GRCm39) |
S4P |
possibly damaging |
Het |
| Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,366,835 (GRCm39) |
T1595I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,400 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,595,466 (GRCm39) |
D96G |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Lrp4 |
A |
C |
2: 91,320,811 (GRCm39) |
T975P |
possibly damaging |
Het |
| Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,455,015 (GRCm39) |
Q1302* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,972,999 (GRCm39) |
|
probably null |
Het |
| Mlxip |
T |
C |
5: 123,585,537 (GRCm39) |
V642A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,765,846 (GRCm39) |
|
probably benign |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,963,645 (GRCm39) |
N499K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,655,004 (GRCm39) |
M272V |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,654,800 (GRCm39) |
S722R |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,358,843 (GRCm39) |
P344S |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,002 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,229,275 (GRCm39) |
I105V |
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,032,652 (GRCm39) |
D130G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,526,210 (GRCm39) |
Y260C |
probably damaging |
Het |
| Tsks |
G |
T |
7: 44,601,309 (GRCm39) |
R208L |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,577,585 (GRCm39) |
S22690* |
probably null |
Het |
| Ttyh2 |
T |
G |
11: 114,609,958 (GRCm39) |
S510A |
possibly damaging |
Het |
| Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,213,725 (GRCm39) |
C20S |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,685 (GRCm39) |
Y253* |
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 |
|
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'- GCTTGGGTGCTCTCTTCACT -3'
(R):5'- CTCCGCCAAAGTACTGGGG -3'
Sequencing Primer
(F):5'- GGGTGCTCTCTTCACTTTGGC -3'
(R):5'- AGATCCCTGCGGTTCACAAATTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation