Incidental Mutation 'R5431:B4galnt3'
ID |
428048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B4galnt3
|
Ensembl Gene |
ENSMUSG00000041372 |
Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
Synonyms |
|
MMRRC Submission |
042847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5431 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120195928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 300
(T300S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057283]
[ENSMUST00000212457]
|
AlphaFold |
Q6L8S8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057283
AA Change: T300S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058253 Gene: ENSMUSG00000041372 AA Change: T300S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
PA14
|
129 |
276 |
1.16e-21 |
SMART |
low complexity region
|
591 |
612 |
N/A |
INTRINSIC |
Pfam:CHGN
|
650 |
985 |
3.9e-29 |
PFAM |
Pfam:Glyco_transf_7C
|
896 |
974 |
3.3e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125341
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212457
AA Change: T300S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
T |
C |
16: 88,504,426 (GRCm39) |
S124G |
possibly damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,128,045 (GRCm39) |
T27A |
probably benign |
Het |
Aspg |
T |
A |
12: 112,089,846 (GRCm39) |
N461K |
probably benign |
Het |
BC035044 |
A |
G |
6: 128,861,970 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
C |
T |
9: 75,800,991 (GRCm39) |
P374S |
probably damaging |
Het |
C330018D20Rik |
A |
T |
18: 57,090,928 (GRCm39) |
F78L |
probably benign |
Het |
Cds2 |
T |
A |
2: 132,144,090 (GRCm39) |
S289T |
probably benign |
Het |
Cerkl |
C |
T |
2: 79,171,679 (GRCm39) |
C393Y |
probably damaging |
Het |
Cibar2 |
C |
A |
8: 120,894,042 (GRCm39) |
|
probably null |
Het |
Ciita |
C |
T |
16: 10,341,656 (GRCm39) |
R1020C |
probably damaging |
Het |
Dcaf13 |
C |
A |
15: 38,986,619 (GRCm39) |
D130E |
probably benign |
Het |
Dnal4 |
C |
T |
15: 79,646,648 (GRCm39) |
G50R |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,957,323 (GRCm39) |
N109S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,824,420 (GRCm39) |
V2435A |
unknown |
Het |
Fam178b |
T |
C |
1: 36,671,566 (GRCm39) |
E185G |
probably damaging |
Het |
Fam227b |
C |
A |
2: 125,968,851 (GRCm39) |
L74F |
probably benign |
Het |
Fgfr4 |
G |
A |
13: 55,304,464 (GRCm39) |
V138I |
probably benign |
Het |
Flnc |
A |
G |
6: 29,456,383 (GRCm39) |
I2161V |
possibly damaging |
Het |
Frmd5 |
T |
C |
2: 121,393,390 (GRCm39) |
N235S |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Ggt6 |
A |
G |
11: 72,328,564 (GRCm39) |
T355A |
possibly damaging |
Het |
Gm14393 |
G |
A |
2: 174,905,669 (GRCm39) |
T41I |
probably damaging |
Het |
Gpr151 |
A |
C |
18: 42,711,932 (GRCm39) |
S249A |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,746 (GRCm39) |
V429D |
probably benign |
Het |
Grm7 |
G |
A |
6: 111,335,387 (GRCm39) |
M599I |
probably benign |
Het |
Hdac4 |
T |
A |
1: 91,900,512 (GRCm39) |
R54* |
probably null |
Het |
Ice1 |
A |
G |
13: 70,740,769 (GRCm39) |
L2146S |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,815,588 (GRCm39) |
V183I |
probably benign |
Het |
Kel |
G |
A |
6: 41,675,354 (GRCm39) |
S299F |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,424,433 (GRCm39) |
I1016T |
possibly damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,130 (GRCm39) |
D395G |
probably damaging |
Het |
Micu1 |
T |
C |
10: 59,586,343 (GRCm39) |
Y140H |
possibly damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nbn |
C |
T |
4: 15,986,593 (GRCm39) |
H665Y |
probably benign |
Het |
Pkhd1 |
G |
T |
1: 20,188,060 (GRCm39) |
T3416K |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,929,840 (GRCm39) |
F232S |
probably damaging |
Het |
Pus7l |
T |
C |
15: 94,427,367 (GRCm39) |
N472D |
probably damaging |
Het |
Rfx1 |
C |
T |
8: 84,809,349 (GRCm39) |
Q225* |
probably null |
Het |
Rnase2a |
T |
C |
14: 51,493,020 (GRCm39) |
Y115C |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,809,237 (GRCm39) |
D386V |
probably benign |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sgcz |
T |
A |
8: 38,107,138 (GRCm39) |
T125S |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,668,695 (GRCm39) |
S36G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,574,119 (GRCm39) |
L31P |
probably damaging |
Het |
Tenm3 |
C |
A |
8: 48,820,412 (GRCm39) |
E142* |
probably null |
Het |
Tgfbr2 |
G |
T |
9: 115,960,669 (GRCm39) |
S94R |
probably damaging |
Het |
Tut4 |
T |
A |
4: 108,348,609 (GRCm39) |
I297N |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,239,684 (GRCm39) |
I293T |
probably damaging |
Het |
Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,746,324 (GRCm39) |
D511G |
possibly damaging |
Het |
|
Other mutations in B4galnt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01419:B4galnt3
|
APN |
6 |
120,192,351 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01543:B4galnt3
|
APN |
6 |
120,186,273 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02692:B4galnt3
|
APN |
6 |
120,187,272 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:B4galnt3
|
APN |
6 |
120,208,555 (GRCm39) |
splice site |
probably benign |
|
IGL03272:B4galnt3
|
APN |
6 |
120,193,267 (GRCm39) |
missense |
probably damaging |
1.00 |
Minimus
|
UTSW |
6 |
120,192,018 (GRCm39) |
missense |
probably benign |
|
R0121:B4galnt3
|
UTSW |
6 |
120,191,999 (GRCm39) |
missense |
probably benign |
|
R0414:B4galnt3
|
UTSW |
6 |
120,193,526 (GRCm39) |
missense |
probably benign |
0.05 |
R1885:B4galnt3
|
UTSW |
6 |
120,200,601 (GRCm39) |
missense |
probably damaging |
0.99 |
R1908:B4galnt3
|
UTSW |
6 |
120,187,051 (GRCm39) |
critical splice donor site |
probably null |
|
R2264:B4galnt3
|
UTSW |
6 |
120,180,771 (GRCm39) |
makesense |
probably null |
|
R4208:B4galnt3
|
UTSW |
6 |
120,192,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R4353:B4galnt3
|
UTSW |
6 |
120,192,437 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4649:B4galnt3
|
UTSW |
6 |
120,201,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R4874:B4galnt3
|
UTSW |
6 |
120,184,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5046:B4galnt3
|
UTSW |
6 |
120,191,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R5232:B4galnt3
|
UTSW |
6 |
120,209,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:B4galnt3
|
UTSW |
6 |
120,192,018 (GRCm39) |
missense |
probably benign |
|
R5458:B4galnt3
|
UTSW |
6 |
120,187,346 (GRCm39) |
missense |
probably damaging |
0.98 |
R5793:B4galnt3
|
UTSW |
6 |
120,185,865 (GRCm39) |
critical splice donor site |
probably null |
|
R5954:B4galnt3
|
UTSW |
6 |
120,202,149 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5985:B4galnt3
|
UTSW |
6 |
120,187,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R6156:B4galnt3
|
UTSW |
6 |
120,191,801 (GRCm39) |
missense |
probably benign |
0.02 |
R6176:B4galnt3
|
UTSW |
6 |
120,201,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R6207:B4galnt3
|
UTSW |
6 |
120,183,575 (GRCm39) |
splice site |
probably null |
|
R6565:B4galnt3
|
UTSW |
6 |
120,194,440 (GRCm39) |
nonsense |
probably null |
|
R7153:B4galnt3
|
UTSW |
6 |
120,191,929 (GRCm39) |
missense |
probably benign |
0.00 |
R7268:B4galnt3
|
UTSW |
6 |
120,192,003 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7307:B4galnt3
|
UTSW |
6 |
120,192,392 (GRCm39) |
missense |
probably benign |
0.00 |
R7311:B4galnt3
|
UTSW |
6 |
120,192,396 (GRCm39) |
nonsense |
probably null |
|
R7360:B4galnt3
|
UTSW |
6 |
120,209,940 (GRCm39) |
nonsense |
probably null |
|
R7538:B4galnt3
|
UTSW |
6 |
120,271,384 (GRCm39) |
nonsense |
probably null |
|
R7674:B4galnt3
|
UTSW |
6 |
120,192,166 (GRCm39) |
missense |
probably benign |
0.01 |
R7706:B4galnt3
|
UTSW |
6 |
120,195,913 (GRCm39) |
missense |
probably benign |
0.16 |
R7727:B4galnt3
|
UTSW |
6 |
120,202,148 (GRCm39) |
missense |
probably benign |
0.03 |
R8125:B4galnt3
|
UTSW |
6 |
120,201,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R8131:B4galnt3
|
UTSW |
6 |
120,271,346 (GRCm39) |
splice site |
probably null |
|
R8170:B4galnt3
|
UTSW |
6 |
120,183,577 (GRCm39) |
splice site |
probably null |
|
R9225:B4galnt3
|
UTSW |
6 |
120,195,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:B4galnt3
|
UTSW |
6 |
120,271,438 (GRCm39) |
missense |
probably null |
0.38 |
R9531:B4galnt3
|
UTSW |
6 |
120,180,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R9544:B4galnt3
|
UTSW |
6 |
120,209,905 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:B4galnt3
|
UTSW |
6 |
120,208,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCTCCTGAGTCCTATCTATCAAC -3'
(R):5'- AAGTACTATACAGGTGTAGGCTAAG -3'
Sequencing Primer
(F):5'- TCAACATAGAGAGCCTTGATGTG -3'
(R):5'- TTCTGTCAGGTCAACAGTAGAGC -3'
|
Posted On |
2016-09-01 |