Incidental Mutation 'R8552:B4galt3'
| ID |
659892 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.454)
|
| Stock # |
R8552 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
171097898-171104468 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 171101917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 34
(E34D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000073120]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000141114]
[ENSMUST00000141999]
[ENSMUST00000151863]
[ENSMUST00000192956]
|
| AlphaFold |
Q91YY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064272
AA Change: E256D
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000066353
Gene: ENSMUSG00000052423
AA Change: E256D
| 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 |
possibly damaging
Transcript: ENSMUST00000111313
AA Change: E256D
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106945
Gene: ENSMUSG00000052423
AA Change: E256D
| 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 |
possibly damaging
Transcript: ENSMUST00000126699
AA Change: E34D
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141958
Gene: ENSMUSG00000052423
AA Change: E34D
| 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 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,646,210 (GRCm39) |
H242R |
possibly damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,504 (GRCm39) |
R514S |
probably benign |
Het |
| Adprs |
A |
G |
4: 126,210,368 (GRCm39) |
*371Q |
probably null |
Het |
| Arid4a |
T |
C |
12: 71,106,849 (GRCm39) |
L307P |
probably benign |
Het |
| Armc12 |
C |
T |
17: 28,757,675 (GRCm39) |
A269V |
probably benign |
Het |
| Asb1 |
T |
A |
1: 91,480,078 (GRCm39) |
V259E |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,435,797 (GRCm39) |
Y171C |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,011,431 (GRCm39) |
F959L |
probably benign |
Het |
| Cacna1i |
A |
G |
15: 80,204,598 (GRCm39) |
N90S |
possibly damaging |
Het |
| Cdc42ep2 |
T |
A |
19: 5,968,060 (GRCm39) |
*215L |
probably null |
Het |
| Cep162 |
C |
T |
9: 87,126,361 (GRCm39) |
E184K |
probably benign |
Het |
| Cnga3 |
C |
T |
1: 37,284,060 (GRCm39) |
P121L |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,306,524 (GRCm39) |
R285C |
probably damaging |
Het |
| Defb18 |
T |
C |
1: 18,306,791 (GRCm39) |
Y55C |
probably damaging |
Het |
| Depdc1b |
C |
T |
13: 108,493,959 (GRCm39) |
P116S |
probably damaging |
Het |
| Dhx16 |
C |
T |
17: 36,192,183 (GRCm39) |
A74V |
possibly damaging |
Het |
| Dnajc21 |
A |
T |
15: 10,464,005 (GRCm39) |
Y53* |
probably null |
Het |
| Dse |
T |
C |
10: 34,028,316 (GRCm39) |
R925G |
possibly damaging |
Het |
| Dsp |
C |
T |
13: 38,369,117 (GRCm39) |
L738F |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,698,261 (GRCm39) |
K33E |
possibly damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
| Gdf9 |
T |
C |
11: 53,324,378 (GRCm39) |
L49S |
possibly damaging |
Het |
| Gigyf1 |
G |
T |
5: 137,521,401 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
T |
A |
10: 94,131,061 (GRCm39) |
I83L |
unknown |
Het |
| Ighv9-3 |
A |
G |
12: 114,104,349 (GRCm39) |
L105P |
probably damaging |
Het |
| Krtap5-1 |
C |
A |
7: 141,850,160 (GRCm39) |
W189L |
probably null |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,089 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,298,993 (GRCm39) |
E108D |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,768,228 (GRCm39) |
P238S |
probably benign |
Het |
| Ms4a4c |
C |
T |
19: 11,392,196 (GRCm39) |
Q6* |
probably null |
Het |
| Or5b97 |
A |
G |
19: 12,879,096 (GRCm39) |
L16P |
probably damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,156,972 (GRCm39) |
R300G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,810,443 (GRCm39) |
H92Q |
probably damaging |
Het |
| Rad54l2 |
T |
A |
9: 106,570,777 (GRCm39) |
Q1181L |
possibly damaging |
Het |
| Rbl1 |
A |
T |
2: 157,038,174 (GRCm39) |
V131E |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,621 (GRCm39) |
E523G |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Slc22a20 |
C |
A |
19: 6,035,698 (GRCm39) |
C130F |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,670,979 (GRCm39) |
L709S |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,600,765 (GRCm39) |
|
probably benign |
Het |
| Teddm1b |
T |
A |
1: 153,750,194 (GRCm39) |
M1K |
probably null |
Het |
| Tes |
A |
G |
6: 17,097,327 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tmem104 |
T |
C |
11: 115,088,144 (GRCm39) |
L43P |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,213 (GRCm39) |
E618G |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,414 (GRCm39) |
D551G |
probably damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,015,236 (GRCm39) |
T51S |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,722,744 (GRCm39) |
H441Q |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,504,059 (GRCm39) |
D332E |
probably benign |
Het |
| Usp10 |
C |
T |
8: 120,683,367 (GRCm39) |
T746M |
possibly damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,138 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,731,684 (GRCm39) |
L143V |
probably damaging |
Het |
| Wnt3a |
T |
A |
11: 59,166,043 (GRCm39) |
H79L |
probably damaging |
Het |
| Zbtb7a |
C |
T |
10: 80,980,141 (GRCm39) |
R112W |
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 |
|
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 |
|
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'- GTTGCCATGAACAAGTTTGGATAC -3'
(R):5'- ATTTGGCAGAATGGGCAGCG -3'
Sequencing Primer
(F):5'- AGAAAGTAAGGAAACCAACTTTGTAG -3'
(R):5'- AATGGGCAGCGATGGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation