Incidental Mutation 'R7367:B4galnt4'
| ID |
571880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt4
|
| Ensembl Gene |
ENSMUSG00000055629 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
| Synonyms |
LOC381951 |
| MMRRC Submission |
045451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R7367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140641017-140652313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140644388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 123
(N123D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048002]
|
| AlphaFold |
Q766D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048002
AA Change: N123D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: N123D
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,996,312 (GRCm39) |
T374A |
probably benign |
Het |
| Agps |
T |
A |
2: 75,698,657 (GRCm39) |
H348Q |
possibly damaging |
Het |
| Ankrd34b |
C |
A |
13: 92,574,795 (GRCm39) |
T9K |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,138,328 (GRCm39) |
Q1203R |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,261 (GRCm39) |
C114R |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,014,259 (GRCm39) |
H1188Q |
probably damaging |
Het |
| Cisd1 |
A |
G |
10: 71,172,190 (GRCm39) |
Y31H |
probably damaging |
Het |
| Cnga1 |
G |
A |
5: 72,762,701 (GRCm39) |
S271F |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,370,025 (GRCm39) |
T881A |
probably benign |
Het |
| Cracd |
T |
A |
5: 77,004,449 (GRCm39) |
L270Q |
unknown |
Het |
| Cyp2s1 |
A |
T |
7: 25,505,398 (GRCm39) |
D355E |
possibly damaging |
Het |
| Dnaaf10 |
A |
G |
11: 17,182,712 (GRCm39) |
Y291C |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,951,177 (GRCm39) |
R3044W |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 118,006,022 (GRCm39) |
D730G |
probably benign |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Flacc1 |
A |
T |
1: 58,706,023 (GRCm39) |
I282N |
probably benign |
Het |
| Fsd2 |
A |
G |
7: 81,184,928 (GRCm39) |
I656T |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm45871 |
A |
T |
18: 90,609,224 (GRCm39) |
H154L |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,718,908 (GRCm39) |
N312K |
probably benign |
Het |
| H2ac4 |
A |
G |
13: 23,935,333 (GRCm39) |
D73G |
possibly damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,288,252 (GRCm39) |
H227Q |
probably damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,829,492 (GRCm39) |
S237T |
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
| Kcnv1 |
C |
T |
15: 44,972,638 (GRCm39) |
C415Y |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,408,789 (GRCm39) |
L1037H |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,834,751 (GRCm39) |
T1347A |
probably benign |
Het |
| Lrrc32 |
G |
T |
7: 98,148,086 (GRCm39) |
E289* |
probably null |
Het |
| Lrrc66 |
T |
C |
5: 73,765,724 (GRCm39) |
T440A |
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,799,408 (GRCm39) |
L928P |
probably damaging |
Het |
| Nos2 |
G |
A |
11: 78,840,916 (GRCm39) |
C788Y |
possibly damaging |
Het |
| Or2c1 |
A |
G |
16: 3,657,166 (GRCm39) |
T110A |
probably damaging |
Het |
| Or4x11 |
A |
G |
2: 89,868,156 (GRCm39) |
S298G |
probably benign |
Het |
| Or5m5 |
T |
C |
2: 85,814,687 (GRCm39) |
W168R |
possibly damaging |
Het |
| Pafah1b3 |
A |
G |
7: 24,995,491 (GRCm39) |
C156R |
probably benign |
Het |
| Pak1ip1 |
T |
G |
13: 41,162,371 (GRCm39) |
N151K |
probably damaging |
Het |
| Pax7 |
G |
A |
4: 139,507,060 (GRCm39) |
P326S |
probably benign |
Het |
| Pex11b |
G |
A |
3: 96,543,994 (GRCm39) |
A21T |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,516,488 (GRCm39) |
V546A |
probably benign |
Het |
| Ppat |
T |
A |
5: 77,067,711 (GRCm39) |
R260* |
probably null |
Het |
| Ppp1r13l |
C |
G |
7: 19,104,081 (GRCm39) |
S187R |
probably benign |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,081,129 (GRCm39) |
D55G |
possibly damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,488 (GRCm39) |
Y526* |
probably null |
Het |
| Rp1 |
A |
G |
1: 4,418,221 (GRCm39) |
W964R |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,669,247 (GRCm39) |
I35V |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,013,785 (GRCm39) |
N730S |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,011,535 (GRCm39) |
K374E |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,577 (GRCm39) |
D446G |
probably benign |
Het |
| Sugct |
T |
A |
13: 17,819,399 (GRCm39) |
I149F |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,416,152 (GRCm39) |
N142S |
probably damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,918,549 (GRCm39) |
Y1514N |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,180,002 (GRCm39) |
S259L |
unknown |
Het |
| Utp20 |
A |
T |
10: 88,631,305 (GRCm39) |
L892Q |
probably benign |
Het |
| Zfp956 |
C |
T |
6: 47,940,853 (GRCm39) |
T404M |
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 |
|
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 |
|
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'- CATGCTGTTTCCTGGAGGAC -3'
(R):5'- CGGAGTCCATAGTTCTTCCAC -3'
Sequencing Primer
(F):5'- TTTCCTGGAGGACCTAGGAAGC -3'
(R):5'- AGTTCTTCCACTTAGGGGACACAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation