Incidental Mutation 'R4334:B4galt4'
| ID |
323713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galt4
|
| Ensembl Gene |
ENSMUSG00000022793 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 4 |
| Synonyms |
9130402O08Rik |
| MMRRC Submission |
041664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R4334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
38562626-38589411 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38572621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 102
(I102T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023482]
[ENSMUST00000114712]
[ENSMUST00000154902]
[ENSMUST00000231655]
|
| AlphaFold |
Q9JJ04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023482
AA Change: I38T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023482
Gene: ENSMUSG00000022793
AA Change: I38T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
77 |
209 |
8.4e-63 |
PFAM |
|
Pfam:Glyco_transf_7C
|
213 |
290 |
1e-30 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
224 |
289 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114712
AA Change: I38T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110360
Gene: ENSMUSG00000022793
AA Change: I38T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
77 |
211 |
6.2e-58 |
PFAM |
|
Pfam:Glyco_transf_7C
|
213 |
290 |
6.9e-31 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
224 |
289 |
3.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119414
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154902
AA Change: I38T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118593
Gene: ENSMUSG00000022793
AA Change: I38T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
77 |
211 |
5.9e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231655
AA Change: I102T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
| Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
| Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
| Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
| Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
| Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
| Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
| Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
| Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
| Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
probably benign |
Het |
|
| Other mutations in B4galt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:B4galt4
|
APN |
16 |
38,574,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01414:B4galt4
|
APN |
16 |
38,578,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:B4galt4
|
UTSW |
16 |
38,588,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2125:B4galt4
|
UTSW |
16 |
38,586,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3950:B4galt4
|
UTSW |
16 |
38,588,384 (GRCm39) |
missense |
probably benign |
|
|
R4773:B4galt4
|
UTSW |
16 |
38,572,658 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6499:B4galt4
|
UTSW |
16 |
38,578,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6706:B4galt4
|
UTSW |
16 |
38,578,173 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7208:B4galt4
|
UTSW |
16 |
38,574,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7500:B4galt4
|
UTSW |
16 |
38,588,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:B4galt4
|
UTSW |
16 |
38,574,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:B4galt4
|
UTSW |
16 |
38,578,172 (GRCm39) |
nonsense |
probably null |
|
|
R8058:B4galt4
|
UTSW |
16 |
38,586,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8202:B4galt4
|
UTSW |
16 |
38,588,274 (GRCm39) |
missense |
probably benign |
|
|
R8900:B4galt4
|
UTSW |
16 |
38,572,404 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R9575:B4galt4
|
UTSW |
16 |
38,583,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATCCCCGGTCATACTG -3'
(R):5'- ATACTTTCCCATACACCAGTGAAG -3'
Sequencing Primer
(F):5'- GGAAAAGTACAATTTGGAACCTCCTC -3'
(R):5'- CCATACACCAGTGAAGTAACTTTTTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation