Incidental Mutation 'R6954:B4galnt4'
| ID |
541368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt4
|
| Ensembl Gene |
ENSMUSG00000055629 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
| Synonyms |
LOC381951 |
| MMRRC Submission |
045066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R6954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141061104-141072400 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141067232 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 326
(T326A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048002]
|
| AlphaFold |
Q766D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048002
AA Change: T326A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: T326A
| 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 |
probably benign
Transcript: ENSMUST00000210517
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| 2210407C18Rik |
T |
A |
11: 58,608,488 (GRCm38) |
Y168F |
probably benign |
Het |
| 4930451I11Rik |
A |
T |
7: 126,830,637 (GRCm38) |
|
probably null |
Het |
| Alox5 |
A |
C |
6: 116,420,280 (GRCm38) |
Y314* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 127,064,951 (GRCm38) |
S1044P |
probably benign |
Het |
| Ash2l |
A |
G |
8: 25,822,768 (GRCm38) |
V391A |
possibly damaging |
Het |
| Ccm2 |
T |
A |
11: 6,594,239 (GRCm38) |
I345N |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,748,559 (GRCm38) |
H1034Y |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,599,496 (GRCm38) |
L849S |
probably damaging |
Het |
| Ctrb1 |
A |
G |
8: 111,686,664 (GRCm38) |
S239P |
probably damaging |
Het |
| D13Ertd608e |
A |
G |
13: 119,846,130 (GRCm38) |
D20G |
possibly damaging |
Het |
| Dennd1b |
T |
A |
1: 139,168,945 (GRCm38) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,066,432 (GRCm38) |
I2773T |
probably damaging |
Het |
| Eif2b2 |
T |
A |
12: 85,226,043 (GRCm38) |
F267L |
probably damaging |
Het |
| Fcrls |
A |
G |
3: 87,263,676 (GRCm38) |
|
probably benign |
Het |
| Furin |
G |
T |
7: 80,396,964 (GRCm38) |
D181E |
possibly damaging |
Het |
| Gm29106 |
T |
A |
1: 118,200,587 (GRCm38) |
C670S |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,168,490 (GRCm38) |
D204E |
possibly damaging |
Het |
| Hsf2 |
T |
A |
10: 57,504,643 (GRCm38) |
I191N |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,799,692 (GRCm38) |
D566G |
probably benign |
Het |
| Igf1 |
G |
C |
10: 87,864,860 (GRCm38) |
V49L |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,663 (GRCm38) |
C44Y |
probably damaging |
Het |
| Letm1 |
G |
A |
5: 33,782,507 (GRCm38) |
R16C |
probably benign |
Het |
| Marf1 |
A |
G |
16: 14,138,520 (GRCm38) |
V819A |
probably damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,891,952 (GRCm38) |
S428T |
probably benign |
Het |
| Myo1d |
T |
C |
11: 80,674,957 (GRCm38) |
I347M |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,290,819 (GRCm38) |
I175V |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,223,414 (GRCm38) |
V438E |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,208,109 (GRCm38) |
V768E |
possibly damaging |
Het |
| Olfr1015 |
T |
A |
2: 85,786,382 (GRCm38) |
Y290* |
probably null |
Het |
| Olfr731 |
A |
T |
14: 50,238,110 (GRCm38) |
Y258* |
probably null |
Het |
| Pcdh15 |
C |
T |
10: 74,645,989 (GRCm38) |
H1651Y |
possibly damaging |
Het |
| Pdgfra |
A |
T |
5: 75,173,394 (GRCm38) |
Q376L |
possibly damaging |
Het |
| Pign |
T |
C |
1: 105,553,897 (GRCm38) |
I791M |
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 133,066,303 (GRCm38) |
S2A |
possibly damaging |
Het |
| Pip5k1a |
A |
T |
3: 95,068,247 (GRCm38) |
I304K |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,817,853 (GRCm38) |
L1294* |
probably null |
Het |
| Pprc1 |
T |
C |
19: 46,064,433 (GRCm38) |
S797P |
probably damaging |
Het |
| Prob1 |
A |
G |
18: 35,654,268 (GRCm38) |
V311A |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,000,021 (GRCm38) |
T40K |
probably damaging |
Het |
| Rif1 |
T |
G |
2: 52,112,691 (GRCm38) |
D2052E |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,032,891 (GRCm38) |
V195A |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,427,946 (GRCm38) |
|
probably null |
Het |
| Sidt2 |
A |
T |
9: 45,952,850 (GRCm38) |
N123K |
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,622,096 (GRCm38) |
A320T |
probably benign |
Het |
| Slc25a10 |
A |
G |
11: 120,498,147 (GRCm38) |
H279R |
probably benign |
Het |
| Slc35b4 |
A |
G |
6: 34,158,621 (GRCm38) |
V252A |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,886,340 (GRCm38) |
T231A |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,801,893 (GRCm38) |
H429L |
probably damaging |
Het |
| Tas2r134 |
C |
T |
2: 51,627,770 (GRCm38) |
T87I |
probably benign |
Het |
| Tdpoz2 |
A |
T |
3: 93,652,275 (GRCm38) |
L130H |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,554,724 (GRCm38) |
|
probably null |
Het |
| Tmppe |
G |
A |
9: 114,405,523 (GRCm38) |
V297I |
probably benign |
Het |
| Ung |
G |
T |
5: 114,131,337 (GRCm38) |
A37S |
probably benign |
Het |
| Vdac1 |
T |
C |
11: 52,386,373 (GRCm38) |
Y237H |
probably damaging |
Het |
| Vgll4 |
T |
C |
6: 114,921,367 (GRCm38) |
Y11C |
probably damaging |
Het |
| Vmn1r24 |
A |
G |
6: 57,956,452 (GRCm38) |
I27T |
probably benign |
Het |
| Zfp280b |
T |
A |
10: 76,039,688 (GRCm38) |
M467K |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,484,365 (GRCm38) |
I329V |
probably damaging |
Het |
|
| Other mutations in B4galnt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01598:B4galnt4
|
APN |
7 |
141,070,515 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL02055:B4galnt4
|
APN |
7 |
141,070,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02248:B4galnt4
|
APN |
7 |
141,067,808 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02955:B4galnt4
|
APN |
7 |
141,064,678 (GRCm38) |
missense |
probably null |
0.08 |
|
IGL03334:B4galnt4
|
APN |
7 |
141,067,441 (GRCm38) |
splice site |
probably null |
|
|
H8786:B4galnt4
|
UTSW |
7 |
141,071,322 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0520:B4galnt4
|
UTSW |
7 |
141,067,373 (GRCm38) |
nonsense |
probably null |
|
|
R0735:B4galnt4
|
UTSW |
7 |
141,064,323 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1355:B4galnt4
|
UTSW |
7 |
141,065,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1864:B4galnt4
|
UTSW |
7 |
141,070,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1874:B4galnt4
|
UTSW |
7 |
141,070,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1928:B4galnt4
|
UTSW |
7 |
141,068,148 (GRCm38) |
nonsense |
probably null |
|
|
R1969:B4galnt4
|
UTSW |
7 |
141,064,848 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3429:B4galnt4
|
UTSW |
7 |
141,070,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4239:B4galnt4
|
UTSW |
7 |
141,061,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4382:B4galnt4
|
UTSW |
7 |
141,070,536 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4517:B4galnt4
|
UTSW |
7 |
141,067,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4748:B4galnt4
|
UTSW |
7 |
141,071,720 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4827:B4galnt4
|
UTSW |
7 |
141,068,479 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4831:B4galnt4
|
UTSW |
7 |
141,064,557 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4831:B4galnt4
|
UTSW |
7 |
141,067,721 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4898:B4galnt4
|
UTSW |
7 |
141,068,260 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5028:B4galnt4
|
UTSW |
7 |
141,068,062 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5249:B4galnt4
|
UTSW |
7 |
141,065,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5267:B4galnt4
|
UTSW |
7 |
141,070,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5728:B4galnt4
|
UTSW |
7 |
141,070,575 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5924:B4galnt4
|
UTSW |
7 |
141,070,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6063:B4galnt4
|
UTSW |
7 |
141,064,730 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6311:B4galnt4
|
UTSW |
7 |
141,068,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6376:B4galnt4
|
UTSW |
7 |
141,067,422 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6689:B4galnt4
|
UTSW |
7 |
141,067,984 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6974:B4galnt4
|
UTSW |
7 |
141,067,536 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7041:B4galnt4
|
UTSW |
7 |
141,070,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7092:B4galnt4
|
UTSW |
7 |
141,068,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7359:B4galnt4
|
UTSW |
7 |
141,071,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7367:B4galnt4
|
UTSW |
7 |
141,064,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7409:B4galnt4
|
UTSW |
7 |
141,067,003 (GRCm38) |
splice site |
probably null |
|
|
R7519:B4galnt4
|
UTSW |
7 |
141,064,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7664:B4galnt4
|
UTSW |
7 |
141,067,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7679:B4galnt4
|
UTSW |
7 |
141,067,765 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7782:B4galnt4
|
UTSW |
7 |
141,065,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8103:B4galnt4
|
UTSW |
7 |
141,064,651 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8783:B4galnt4
|
UTSW |
7 |
141,063,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8796:B4galnt4
|
UTSW |
7 |
141,067,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8855:B4galnt4
|
UTSW |
7 |
141,068,575 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9545:B4galnt4
|
UTSW |
7 |
141,064,891 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9629:B4galnt4
|
UTSW |
7 |
141,068,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9680:B4galnt4
|
UTSW |
7 |
141,068,044 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9708:B4galnt4
|
UTSW |
7 |
141,067,744 (GRCm38) |
missense |
probably benign |
|
|
RF007:B4galnt4
|
UTSW |
7 |
141,070,696 (GRCm38) |
critical splice donor site |
probably null |
|
|
YA93:B4galnt4
|
UTSW |
7 |
141,067,411 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCCTCAGGGGATGGCTG -3'
(R):5'- TGGCTATGGGGAAATCCTTGAG -3'
Sequencing Primer
(F):5'- GGCTCAGCATGGGGATG -3'
(R):5'- CTTGAGGATATAGGTGGGGGCATAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation