Incidental Mutation 'R6311:B4galnt4'
| ID |
509775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt4
|
| Ensembl Gene |
ENSMUSG00000055629 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
| Synonyms |
LOC381951 |
| MMRRC Submission |
044469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R6311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140641017-140652313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140648572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 696
(N696S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048002]
|
| AlphaFold |
Q766D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048002
AA Change: N696S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: N696S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
G |
13: 68,773,911 (GRCm39) |
I1044T |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,763,062 (GRCm39) |
F773V |
unknown |
Het |
| Cdh16 |
T |
A |
8: 105,341,065 (GRCm39) |
D786V |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,527 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cgn |
C |
T |
3: 94,685,486 (GRCm39) |
|
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,907,128 (GRCm39) |
V174A |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,672,174 (GRCm39) |
N256I |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,339,836 (GRCm39) |
W698* |
probably null |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,515,925 (GRCm39) |
G444V |
probably damaging |
Het |
| Ermn |
A |
G |
2: 57,941,771 (GRCm39) |
F109S |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,524,895 (GRCm39) |
A190T |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,067,804 (GRCm39) |
W556R |
probably damaging |
Het |
| Fut2 |
T |
A |
7: 45,299,804 (GRCm39) |
I323F |
possibly damaging |
Het |
| Grik2 |
T |
G |
10: 49,454,234 (GRCm39) |
K94Q |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,537,406 (GRCm39) |
R37G |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,648,816 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,009,254 (GRCm39) |
D1076E |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,765 (GRCm39) |
I590N |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,500,176 (GRCm39) |
L940P |
possibly damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,629,083 (GRCm39) |
I257V |
possibly damaging |
Het |
| Or5b100-ps1 |
T |
A |
19: 12,993,935 (GRCm39) |
M116K |
probably damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,776 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,316 (GRCm39) |
|
probably null |
Het |
| Pdcl3 |
A |
G |
1: 39,026,925 (GRCm39) |
M1V |
probably null |
Het |
| Pdzd2 |
T |
A |
15: 12,458,274 (GRCm39) |
E196D |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,827,237 (GRCm39) |
F379S |
possibly damaging |
Het |
| Pgm2 |
G |
A |
5: 64,273,758 (GRCm39) |
C581Y |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,590,945 (GRCm39) |
H407L |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,544,321 (GRCm39) |
Y308C |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,600,255 (GRCm39) |
E893G |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 23,999,005 (GRCm39) |
T133A |
probably benign |
Het |
| Slc9a8 |
T |
A |
2: 167,293,140 (GRCm39) |
S163T |
probably damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,482 (GRCm39) |
I126V |
probably benign |
Het |
| Tlr1 |
C |
T |
5: 65,084,188 (GRCm39) |
D130N |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,604 (GRCm39) |
K127* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
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 |
|
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 |
|
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'- AGCCTGTGACTTCCTTCCTGAG -3'
(R):5'- AAGGAAGTTCTGCGATCCCTG -3'
Sequencing Primer
(F):5'- AGCTTGTCTCAGGTATCCAGGC -3'
(R):5'- AAGTTCTGCGATCCCTGCAGAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation