Incidental Mutation 'H8786:B4galnt4'
| ID |
44445 |
| Institutional Source |
Beutler Lab
|
| 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 # |
H8786 (G3)
of strain
617
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140641017-140652313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140651235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 939
(M939L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048002]
|
| AlphaFold |
Q766D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048002
AA Change: M939L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: M939L
| 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 |
probably benign
Transcript: ENSMUST00000210517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211455
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,498,905 (GRCm39) |
Y363H |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,740,906 (GRCm39) |
R103S |
probably damaging |
Het |
| Aars1 |
A |
G |
8: 111,772,187 (GRCm39) |
D459G |
probably benign |
Het |
| Adam25 |
A |
T |
8: 41,207,261 (GRCm39) |
M176L |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,087,551 (GRCm39) |
I471V |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,931,388 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,083,461 (GRCm39) |
Q1136L |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,178,543 (GRCm39) |
C164* |
probably null |
Het |
| Avl9 |
G |
A |
6: 56,734,295 (GRCm39) |
A625T |
probably damaging |
Het |
| Avpr1a |
A |
T |
10: 122,285,373 (GRCm39) |
M222L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,822,001 (GRCm39) |
F331S |
probably benign |
Het |
| C2cd2 |
G |
T |
16: 97,680,840 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Caml |
T |
G |
13: 55,776,409 (GRCm39) |
L216R |
probably damaging |
Het |
| Cd200r4 |
A |
G |
16: 44,653,736 (GRCm39) |
T132A |
possibly damaging |
Het |
| Ces1h |
A |
C |
8: 94,089,550 (GRCm39) |
V283G |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,369,629 (GRCm39) |
V427D |
possibly damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,122 (GRCm39) |
N357I |
possibly damaging |
Het |
| Foxq1 |
C |
G |
13: 31,743,441 (GRCm39) |
S181W |
probably damaging |
Het |
| Gfra2 |
C |
T |
14: 71,215,818 (GRCm39) |
T169M |
possibly damaging |
Het |
| Gm42542 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Hoxa13 |
CGG |
CGNGG |
6: 52,260,636 (GRCm38) |
|
probably null |
Het |
| Hsd11b1 |
C |
A |
1: 192,922,560 (GRCm39) |
A166S |
probably benign |
Het |
| Kcnab3 |
T |
A |
11: 69,219,093 (GRCm39) |
F101L |
probably damaging |
Het |
| Klf6 |
C |
A |
13: 5,911,790 (GRCm39) |
H51Q |
probably damaging |
Het |
| Krtap4-8 |
G |
A |
11: 99,670,898 (GRCm39) |
P191L |
unknown |
Het |
| Lrrk2 |
T |
A |
15: 91,557,561 (GRCm39) |
N26K |
probably benign |
Het |
| Mrgprd |
T |
C |
7: 144,876,004 (GRCm39) |
S292P |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,053,725 (GRCm39) |
I127T |
possibly damaging |
Het |
| Myo7a |
T |
G |
7: 97,744,985 (GRCm39) |
N280T |
possibly damaging |
Het |
| Nipal4 |
A |
G |
11: 46,041,304 (GRCm39) |
F297S |
probably damaging |
Het |
| Npas1 |
A |
G |
7: 16,195,275 (GRCm39) |
I351T |
possibly damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,341 (GRCm39) |
E8G |
probably benign |
Het |
| Or4a72 |
C |
A |
2: 89,405,623 (GRCm39) |
G149V |
probably damaging |
Het |
| Or9e1 |
A |
T |
11: 58,732,146 (GRCm39) |
I69F |
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,448,598 (GRCm39) |
T72A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,427,396 (GRCm39) |
V300A |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,928,612 (GRCm39) |
E881G |
possibly damaging |
Het |
| Polr2h |
T |
A |
16: 20,539,281 (GRCm39) |
L57* |
probably null |
Het |
| Rela |
T |
A |
19: 5,697,046 (GRCm39) |
S418T |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,180 (GRCm39) |
T838A |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,560,955 (GRCm39) |
N413K |
possibly damaging |
Het |
| Slc6a2 |
A |
G |
8: 93,721,268 (GRCm39) |
I466V |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,876 (GRCm39) |
C329S |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,077,691 (GRCm39) |
M164V |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,007,405 (GRCm39) |
V212M |
probably damaging |
Het |
| Sqor |
A |
C |
2: 122,634,288 (GRCm39) |
I142L |
probably benign |
Het |
| Suco |
T |
C |
1: 161,680,420 (GRCm39) |
E317G |
probably damaging |
Het |
| Tlk2 |
T |
A |
11: 105,145,805 (GRCm39) |
I337N |
possibly damaging |
Het |
| Tln1 |
A |
T |
4: 43,544,589 (GRCm39) |
N1113K |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,068,182 (GRCm39) |
Y234C |
probably damaging |
Het |
| Tmem167 |
A |
C |
13: 90,246,585 (GRCm39) |
K36N |
probably damaging |
Het |
| Trim72 |
T |
C |
7: 127,603,963 (GRCm39) |
L103P |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,408,012 (GRCm39) |
|
probably null |
Het |
| Urb1 |
T |
A |
16: 90,566,357 (GRCm39) |
M1477L |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,898,164 (GRCm39) |
M721K |
possibly damaging |
Het |
| Zfp143 |
T |
G |
7: 109,693,575 (GRCm39) |
D636E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGAGTTATTCTGACGCCGCC -3'
(R):5'- GAAGCCTGATTTTGGAGACCCTGG -3'
Sequencing Primer
(F):5'- CGAACTGGAAACTTCGAGC -3'
(R):5'- GAGTGCCTGGTATTTGCTAATAAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation