Incidental Mutation 'R5954:B4galnt3'
| ID |
500086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt3
|
| Ensembl Gene |
ENSMUSG00000041372 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
| Synonyms |
|
| MMRRC Submission |
044143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120180034-120271520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120202149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 118
(F118L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057283]
[ENSMUST00000212457]
|
| AlphaFold |
Q6L8S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057283
AA Change: F118L
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: F118L
| 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 |
possibly damaging
Transcript: ENSMUST00000212457
AA Change: F118L
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2847 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Abca3 |
T |
C |
17: 24,616,390 (GRCm39) |
I944T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,791,510 (GRCm39) |
T823A |
probably benign |
Het |
| Ankrd42 |
C |
G |
7: 92,273,175 (GRCm39) |
|
probably null |
Het |
| Anks4b |
T |
A |
7: 119,781,396 (GRCm39) |
N142K |
possibly damaging |
Het |
| Armc5 |
A |
G |
7: 127,841,444 (GRCm39) |
E484G |
probably benign |
Het |
| Bbs12 |
C |
T |
3: 37,374,151 (GRCm39) |
L200F |
possibly damaging |
Het |
| Cacna1h |
A |
G |
17: 25,602,175 (GRCm39) |
F1555S |
probably damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
C |
2: 160,807,747 (GRCm39) |
H1822Q |
probably benign |
Het |
| Chdh |
C |
T |
14: 29,753,138 (GRCm39) |
R16C |
possibly damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,221 (GRCm39) |
D431G |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,148,983 (GRCm39) |
R1487Q |
probably damaging |
Het |
| Farp1 |
T |
A |
14: 121,460,079 (GRCm39) |
V116D |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,617,943 (GRCm39) |
T274S |
probably damaging |
Het |
| Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,258,748 (GRCm39) |
L257P |
probably damaging |
Het |
| Gm20402 |
C |
T |
3: 52,176,311 (GRCm39) |
P30L |
probably damaging |
Het |
| Gm7932 |
C |
T |
6: 48,839,793 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
T |
11: 102,371,767 (GRCm39) |
D590E |
unknown |
Het |
| Herc1 |
T |
G |
9: 66,358,774 (GRCm39) |
|
probably benign |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,875 (GRCm39) |
I357F |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,157,396 (GRCm39) |
Y78C |
probably damaging |
Het |
| Itga8 |
C |
A |
2: 12,137,297 (GRCm39) |
A23S |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,599,724 (GRCm39) |
V451A |
possibly damaging |
Het |
| Knstrn |
A |
G |
2: 118,661,436 (GRCm39) |
|
probably benign |
Het |
| Med23 |
A |
G |
10: 24,746,381 (GRCm39) |
|
probably benign |
Het |
| Mefv |
A |
G |
16: 3,533,579 (GRCm39) |
Y231H |
probably benign |
Het |
| Or4d10 |
A |
T |
19: 12,051,447 (GRCm39) |
I183N |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Or5p69 |
T |
A |
7: 107,966,808 (GRCm39) |
I37N |
probably damaging |
Het |
| Or8g21 |
A |
G |
9: 38,906,711 (GRCm39) |
S7P |
probably damaging |
Het |
| Pak5 |
G |
T |
2: 135,958,383 (GRCm39) |
T235K |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,701,960 (GRCm39) |
P294Q |
probably benign |
Het |
| Prepl |
A |
G |
17: 85,372,077 (GRCm39) |
F725L |
probably benign |
Het |
| Ptchd3 |
A |
T |
11: 121,727,413 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,672,175 (GRCm39) |
E1076G |
probably damaging |
Het |
| Sarm1 |
C |
A |
11: 78,381,428 (GRCm39) |
E352* |
probably null |
Het |
| Sccpdh |
T |
A |
1: 179,508,153 (GRCm39) |
H14Q |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,990,234 (GRCm39) |
I661V |
probably benign |
Het |
| Septin3 |
T |
C |
15: 82,174,628 (GRCm39) |
F140L |
probably damaging |
Het |
| Spag6 |
G |
T |
2: 18,715,417 (GRCm39) |
Q65H |
probably damaging |
Het |
| Tnni3 |
C |
T |
7: 4,522,539 (GRCm39) |
R137H |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,201 (GRCm39) |
S742G |
probably benign |
Het |
| Ucn3 |
T |
C |
13: 3,991,413 (GRCm39) |
I80V |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,694,622 (GRCm39) |
|
probably benign |
Het |
| Uncx |
C |
T |
5: 139,533,384 (GRCm39) |
S483L |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,155,143 (GRCm39) |
V550A |
probably damaging |
Het |
| Zfp697 |
C |
A |
3: 98,335,909 (GRCm39) |
T558K |
probably damaging |
Het |
| Zfp790 |
G |
T |
7: 29,528,929 (GRCm39) |
G538V |
probably 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 |
|
R5431:B4galnt3
|
UTSW |
6 |
120,195,928 (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 |
|
|
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'- AGACCGACTGTGATGGACTGAG -3'
(R):5'- AACCTCAGAGTCAGGCCATAGG -3'
Sequencing Primer
(F):5'- CCGACTGTGATGGACTGAGAAGAAG -3'
(R):5'- GTGAGGATCCCAGTAATCCCTTCAG -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation