Incidental Mutation 'IGL02248:B4galnt4'
| ID |
286291 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B4galnt4
|
| Ensembl Gene |
ENSMUSG00000055629 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
| Synonyms |
LOC381951 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
IGL02248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140641017-140652313 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 140647721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048002]
|
| AlphaFold |
Q766D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048002
|
| SMART Domains |
Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
PA14
|
129 |
276 |
6.07e-7 |
SMART |
|
low complexity region
|
412 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
660 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
691 |
1024 |
8.9e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
939 |
1017 |
1.2e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211455
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
A |
T |
4: 153,516,568 (GRCm39) |
S258T |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,590,065 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,023,439 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
T |
C |
11: 49,071,625 (GRCm39) |
D66G |
probably benign |
Het |
| Casp1 |
T |
A |
9: 5,299,452 (GRCm39) |
H60Q |
probably benign |
Het |
| Clec4n |
T |
G |
6: 123,207,527 (GRCm39) |
S30R |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,671,297 (GRCm39) |
L1021P |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,810,940 (GRCm39) |
N22D |
possibly damaging |
Het |
| Frrs1l |
T |
A |
4: 56,968,272 (GRCm39) |
N167Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,813,116 (GRCm39) |
I3145K |
possibly damaging |
Het |
| Gcc1 |
G |
T |
6: 28,418,513 (GRCm39) |
R607S |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,012,107 (GRCm39) |
I113K |
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,758,387 (GRCm39) |
|
probably benign |
Het |
| Igkv4-69 |
T |
A |
6: 69,261,305 (GRCm39) |
|
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,221 (GRCm39) |
C45F |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,152 (GRCm39) |
Y2483C |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,078,895 (GRCm39) |
L273S |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,670,814 (GRCm39) |
L476Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,499,109 (GRCm39) |
I390V |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,806,172 (GRCm39) |
D1756V |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,188 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,312 (GRCm39) |
Y276* |
probably null |
Het |
| Or8k38 |
A |
T |
2: 86,488,061 (GRCm39) |
V247E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,115,990 (GRCm39) |
Y3006C |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,330,342 (GRCm39) |
L503Q |
probably damaging |
Het |
| Serinc5 |
A |
G |
13: 92,842,648 (GRCm39) |
D366G |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,213 (GRCm39) |
D102G |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,757,291 (GRCm39) |
I469F |
possibly damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,465 (GRCm39) |
S273T |
probably benign |
Het |
| Trak1 |
G |
T |
9: 121,275,860 (GRCm39) |
V281L |
probably damaging |
Het |
| Trib2 |
T |
C |
12: 15,843,967 (GRCm39) |
N225S |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,703 (GRCm39) |
K685N |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,418 (GRCm39) |
H142Q |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,303 (GRCm39) |
I1037V |
possibly damaging |
Het |
|
| Other mutations in B4galnt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01598:B4galnt4
|
APN |
7 |
140,650,428 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02055:B4galnt4
|
APN |
7 |
140,650,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02955:B4galnt4
|
APN |
7 |
140,644,591 (GRCm39) |
missense |
probably null |
0.08 |
|
IGL03334:B4galnt4
|
APN |
7 |
140,647,354 (GRCm39) |
splice site |
probably null |
|
|
H8786:B4galnt4
|
UTSW |
7 |
140,651,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0520:B4galnt4
|
UTSW |
7 |
140,647,286 (GRCm39) |
nonsense |
probably null |
|
|
R0735:B4galnt4
|
UTSW |
7 |
140,644,236 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1355:B4galnt4
|
UTSW |
7 |
140,645,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:B4galnt4
|
UTSW |
7 |
140,650,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:B4galnt4
|
UTSW |
7 |
140,650,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:B4galnt4
|
UTSW |
7 |
140,648,061 (GRCm39) |
nonsense |
probably null |
|
|
R1969:B4galnt4
|
UTSW |
7 |
140,644,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3429:B4galnt4
|
UTSW |
7 |
140,650,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:B4galnt4
|
UTSW |
7 |
140,641,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4382:B4galnt4
|
UTSW |
7 |
140,650,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4517:B4galnt4
|
UTSW |
7 |
140,647,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:B4galnt4
|
UTSW |
7 |
140,651,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:B4galnt4
|
UTSW |
7 |
140,648,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4831:B4galnt4
|
UTSW |
7 |
140,644,470 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4831:B4galnt4
|
UTSW |
7 |
140,647,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4898:B4galnt4
|
UTSW |
7 |
140,648,173 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5028:B4galnt4
|
UTSW |
7 |
140,647,975 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5249:B4galnt4
|
UTSW |
7 |
140,644,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:B4galnt4
|
UTSW |
7 |
140,650,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5728:B4galnt4
|
UTSW |
7 |
140,650,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5924:B4galnt4
|
UTSW |
7 |
140,650,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:B4galnt4
|
UTSW |
7 |
140,644,643 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6311:B4galnt4
|
UTSW |
7 |
140,648,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:B4galnt4
|
UTSW |
7 |
140,647,335 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6689:B4galnt4
|
UTSW |
7 |
140,647,897 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6954:B4galnt4
|
UTSW |
7 |
140,647,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6974:B4galnt4
|
UTSW |
7 |
140,647,449 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7041:B4galnt4
|
UTSW |
7 |
140,650,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:B4galnt4
|
UTSW |
7 |
140,648,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:B4galnt4
|
UTSW |
7 |
140,651,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:B4galnt4
|
UTSW |
7 |
140,644,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7409:B4galnt4
|
UTSW |
7 |
140,646,916 (GRCm39) |
splice site |
probably null |
|
|
R7519:B4galnt4
|
UTSW |
7 |
140,644,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:B4galnt4
|
UTSW |
7 |
140,647,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:B4galnt4
|
UTSW |
7 |
140,647,678 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7782:B4galnt4
|
UTSW |
7 |
140,644,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:B4galnt4
|
UTSW |
7 |
140,644,564 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8783:B4galnt4
|
UTSW |
7 |
140,643,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:B4galnt4
|
UTSW |
7 |
140,647,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:B4galnt4
|
UTSW |
7 |
140,648,488 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9545:B4galnt4
|
UTSW |
7 |
140,644,804 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9629:B4galnt4
|
UTSW |
7 |
140,648,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9680:B4galnt4
|
UTSW |
7 |
140,647,957 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9708:B4galnt4
|
UTSW |
7 |
140,647,657 (GRCm39) |
missense |
probably benign |
|
|
RF007:B4galnt4
|
UTSW |
7 |
140,650,609 (GRCm39) |
critical splice donor site |
probably null |
|
|
YA93:B4galnt4
|
UTSW |
7 |
140,647,324 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2015-04-16 |
Incidental Mutation