Incidental Mutation 'R5924:B4galnt4'
| ID |
461728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt4
|
| Ensembl Gene |
ENSMUSG00000055629 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
| Synonyms |
LOC381951 |
| MMRRC Submission |
044119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R5924 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140641017-140652313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140650742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 839
(M839V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048002]
|
| AlphaFold |
Q766D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048002
AA Change: M839V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: M839V
| 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 |
unknown
Transcript: ENSMUST00000210517
AA Change: M45V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211455
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
C |
18: 10,706,085 (GRCm39) |
Y76C |
probably damaging |
Het |
| Agbl1 |
C |
T |
7: 76,058,982 (GRCm39) |
T204I |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,147,984 (GRCm39) |
I984F |
probably damaging |
Het |
| Art3 |
A |
T |
5: 92,560,091 (GRCm39) |
|
probably benign |
Het |
| Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
| Cdhr2 |
A |
C |
13: 54,874,496 (GRCm39) |
D856A |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,938,430 (GRCm39) |
L506Q |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,554,205 (GRCm39) |
|
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,137 (GRCm39) |
F221Y |
possibly damaging |
Het |
| Dcakd |
C |
A |
11: 102,890,646 (GRCm39) |
R47L |
probably benign |
Het |
| Ddr2 |
A |
G |
1: 169,822,197 (GRCm39) |
V417A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,307,473 (GRCm39) |
T1734S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,332,529 (GRCm39) |
M227K |
probably damaging |
Het |
| Eif4g3 |
T |
G |
4: 137,929,237 (GRCm39) |
N1628K |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,381,533 (GRCm39) |
Y439* |
probably null |
Het |
| Esrp1 |
G |
T |
4: 11,361,174 (GRCm39) |
T324K |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,890,765 (GRCm38) |
M549K |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,992,442 (GRCm39) |
Q418L |
unknown |
Het |
| Ggnbp2 |
A |
G |
11: 84,749,363 (GRCm39) |
S144P |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,032,563 (GRCm39) |
|
probably null |
Het |
| Gpr137 |
A |
G |
19: 6,916,729 (GRCm39) |
L228P |
probably damaging |
Het |
| Gpt2 |
C |
A |
8: 86,219,633 (GRCm39) |
S26R |
probably damaging |
Het |
| Hras |
C |
T |
7: 140,772,374 (GRCm39) |
E91K |
possibly damaging |
Het |
| Ighv1-36 |
G |
A |
12: 114,843,777 (GRCm39) |
P28S |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,064,203 (GRCm39) |
T807M |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,202,453 (GRCm39) |
T365A |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,594,658 (GRCm39) |
S795T |
possibly damaging |
Het |
| Magi2 |
A |
C |
5: 20,816,067 (GRCm39) |
M1128L |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,961,854 (GRCm39) |
|
probably null |
Het |
| Mier1 |
T |
A |
4: 103,016,899 (GRCm39) |
L380* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,230,750 (GRCm39) |
Y118C |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,971,421 (GRCm39) |
M277K |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,503,403 (GRCm39) |
V473A |
probably damaging |
Het |
| Nsfl1c |
T |
A |
2: 151,347,320 (GRCm39) |
N164K |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,916,187 (GRCm39) |
Q353L |
probably benign |
Het |
| Opn5 |
A |
T |
17: 42,922,199 (GRCm39) |
M1K |
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,393,254 (GRCm39) |
V205A |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,364,139 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5d41 |
T |
C |
2: 88,054,891 (GRCm39) |
I162V |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,311,634 (GRCm39) |
S434P |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,023,389 (GRCm39) |
Q256* |
probably null |
Het |
| Pik3ap1 |
A |
C |
19: 41,284,895 (GRCm39) |
F597V |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,646,424 (GRCm39) |
K744E |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,162,305 (GRCm39) |
T729A |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,813,582 (GRCm39) |
L652P |
probably damaging |
Het |
| Sebox |
T |
C |
11: 78,395,017 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
T |
9: 110,403,112 (GRCm39) |
I1918F |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 86,929,825 (GRCm39) |
|
probably null |
Het |
| Slc28a1 |
G |
T |
7: 80,765,360 (GRCm39) |
G25V |
probably benign |
Het |
| Slc51a |
A |
G |
16: 32,295,990 (GRCm39) |
F259L |
possibly damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,923,898 (GRCm39) |
C37* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,581,622 (GRCm39) |
D188G |
probably damaging |
Het |
| Stim2 |
A |
G |
5: 54,259,985 (GRCm39) |
K156E |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,572,246 (GRCm39) |
I653T |
probably damaging |
Het |
| Tacr3 |
G |
T |
3: 134,638,060 (GRCm39) |
D406Y |
possibly damaging |
Het |
| Utp20 |
G |
A |
10: 88,651,784 (GRCm39) |
R400C |
probably benign |
Het |
| V1rd19 |
C |
T |
7: 23,703,374 (GRCm39) |
S280L |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,296,685 (GRCm39) |
C700Y |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,803,543 (GRCm39) |
C514S |
probably 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 |
|
IGL02248:B4galnt4
|
APN |
7 |
140,647,721 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTCAGGATGTCATGGTTC -3'
(R):5'- TCGTTTCAAGTACTGGTACCTGC -3'
Sequencing Primer
(F):5'- CATTTCATTGTACCAGGTATGTGC -3'
(R):5'- GTTTCAAGTACTGGTACCTGCAAGAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation