Incidental Mutation 'R7519:B4galnt4'
| ID |
582564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt4
|
| Ensembl Gene |
ENSMUSG00000055629 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
| Synonyms |
LOC381951 |
| MMRRC Submission |
045591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R7519 (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 140644257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 108
(T108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048002]
|
| AlphaFold |
Q766D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048002
AA Change: T108A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: T108A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
G |
A |
7: 27,274,155 (GRCm39) |
R132K |
|
Het |
| Acaca |
T |
C |
11: 84,136,682 (GRCm39) |
S571P |
probably damaging |
Het |
| Adamts20 |
T |
G |
15: 94,223,869 (GRCm39) |
K1286N |
possibly damaging |
Het |
| Adamts7 |
A |
G |
9: 90,079,132 (GRCm39) |
D1477G |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,054,039 (GRCm39) |
T207I |
probably benign |
Het |
| Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGCGG |
CGGCGGTGGCGG |
17: 5,046,128 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
A |
1: 139,418,074 (GRCm39) |
N2934K |
possibly damaging |
Het |
| Axin2 |
T |
G |
11: 108,833,072 (GRCm39) |
V419G |
probably benign |
Het |
| Cacna1s |
G |
A |
1: 135,998,494 (GRCm39) |
R174Q |
probably damaging |
Het |
| Cdh18 |
G |
T |
15: 23,474,298 (GRCm39) |
A723S |
possibly damaging |
Het |
| Ces4a |
T |
C |
8: 105,871,851 (GRCm39) |
M307T |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,203,124 (GRCm39) |
I1193F |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,683,332 (GRCm39) |
G945W |
probably damaging |
Het |
| Ctnna1 |
T |
G |
18: 35,307,424 (GRCm39) |
I140M |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,390,629 (GRCm39) |
S3213P |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,785 (GRCm39) |
S258G |
probably benign |
Het |
| Fbxo15 |
T |
G |
18: 84,982,359 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,785,724 (GRCm39) |
Y387C |
probably damaging |
Het |
| Flt3l |
G |
A |
7: 44,783,269 (GRCm39) |
T176I |
unknown |
Het |
| Galk2 |
G |
A |
2: 125,825,172 (GRCm39) |
R456H |
possibly damaging |
Het |
| Gm10840 |
T |
C |
11: 106,051,716 (GRCm39) |
L14P |
unknown |
Het |
| Gm5591 |
T |
C |
7: 38,220,094 (GRCm39) |
T260A |
possibly damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,638 (GRCm39) |
D274E |
probably damaging |
Het |
| Grhl2 |
T |
A |
15: 37,336,556 (GRCm39) |
D484E |
probably damaging |
Het |
| Hbp1 |
A |
T |
12: 31,983,374 (GRCm39) |
V360D |
probably damaging |
Het |
| Heatr5b |
G |
T |
17: 79,062,646 (GRCm39) |
Q1968K |
probably benign |
Het |
| Igsf8 |
C |
T |
1: 172,143,874 (GRCm39) |
T72M |
probably benign |
Het |
| Kera |
A |
T |
10: 97,444,884 (GRCm39) |
N81I |
probably damaging |
Het |
| Klhl14 |
C |
T |
18: 21,784,900 (GRCm39) |
V176I |
probably benign |
Het |
| Klrb1 |
A |
T |
6: 128,689,252 (GRCm39) |
V73E |
probably damaging |
Het |
| Krtap31-2 |
T |
C |
11: 99,827,501 (GRCm39) |
L111P |
possibly damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,799,725 (GRCm39) |
S106P |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,324,128 (GRCm39) |
T792A |
probably benign |
Het |
| Ndufaf4 |
A |
C |
4: 24,901,847 (GRCm39) |
T132P |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,785,348 (GRCm39) |
V1453A |
probably benign |
Het |
| Or5w13 |
T |
C |
2: 87,523,753 (GRCm39) |
I158V |
probably benign |
Het |
| Or6c76 |
A |
C |
10: 129,612,091 (GRCm39) |
I103L |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,139,319 (GRCm39) |
L316* |
probably null |
Het |
| Pcdha7 |
T |
C |
18: 37,109,285 (GRCm39) |
M770T |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,258,984 (GRCm39) |
S253P |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,876,435 (GRCm39) |
Y12H |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,268 (GRCm39) |
N508S |
probably benign |
Het |
| Pla1a |
A |
G |
16: 38,235,208 (GRCm39) |
I162T |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,502,048 (GRCm39) |
L446M |
probably damaging |
Het |
| Retn |
A |
T |
8: 3,706,079 (GRCm39) |
S22C |
probably damaging |
Het |
| Snx25 |
A |
G |
8: 46,569,309 (GRCm39) |
L196P |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spata31d1b |
G |
A |
13: 59,864,726 (GRCm39) |
D625N |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 177,988,126 (GRCm39) |
*1501W |
probably null |
Het |
| Tarbp1 |
T |
G |
8: 127,160,639 (GRCm39) |
T1271P |
possibly damaging |
Het |
| Uba1y |
T |
C |
Y: 821,567 (GRCm39) |
F154L |
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,705,925 (GRCm39) |
I1513F |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,524 (GRCm39) |
Q132L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,644,506 (GRCm39) |
T2454S |
|
Het |
| Wdr33 |
C |
A |
18: 32,029,823 (GRCm39) |
F1007L |
unknown |
Het |
| Zfp398 |
A |
G |
6: 47,836,407 (GRCm39) |
H201R |
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 |
|
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 |
|
|
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'- GGCTACATAACTGTCTGGGC -3'
(R):5'- TGCAGATTCCGTCTCAGGTG -3'
Sequencing Primer
(F):5'- GCTACATAACTGTCTGGGCAGATC -3'
(R):5'- TCTCAGGTGGCCCACAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation