Incidental Mutation 'R9708:B4galnt4'
| ID |
729898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galnt4
|
| Ensembl Gene |
ENSMUSG00000055629 |
| Gene Name |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
| Synonyms |
LOC381951 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R9708 (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 140647657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 415
(E415G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048002]
|
| AlphaFold |
Q766D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048002
AA Change: E415G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: E415G
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,254,417 (GRCm39) |
N576I |
probably damaging |
Het |
| Acss1 |
G |
T |
2: 150,471,752 (GRCm39) |
T334K |
probably damaging |
Het |
| Alox5 |
A |
G |
6: 116,392,537 (GRCm39) |
L328P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,839,744 (GRCm39) |
M407K |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 31,051,075 (GRCm39) |
I471F |
probably benign |
Het |
| Asph |
G |
A |
4: 9,542,233 (GRCm39) |
R335W |
probably damaging |
Het |
| Btn2a2 |
G |
A |
13: 23,662,907 (GRCm39) |
P348S |
possibly damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,321 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ccdc112 |
G |
A |
18: 46,444,780 (GRCm39) |
A33V |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,619 (GRCm39) |
Y669F |
probably damaging |
Het |
| D030056L22Rik |
T |
G |
19: 18,690,776 (GRCm39) |
L30R |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 124,001,263 (GRCm39) |
G1091* |
probably null |
Het |
| Foxl1 |
A |
G |
8: 121,855,077 (GRCm39) |
D126G |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,112,801 (GRCm39) |
S148P |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,711,154 (GRCm39) |
R115H |
possibly damaging |
Het |
| Gm4924 |
T |
G |
10: 82,214,992 (GRCm39) |
L930R |
unknown |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,087,118 (GRCm39) |
D350V |
probably benign |
Het |
| Kng2 |
G |
T |
16: 22,815,801 (GRCm39) |
P365Q |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,342,076 (GRCm39) |
E1896D |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,634,482 (GRCm39) |
Y1415* |
probably null |
Het |
| Map2k7 |
C |
A |
8: 4,295,806 (GRCm39) |
H429N |
probably benign |
Het |
| Mogat1 |
T |
A |
1: 78,488,633 (GRCm39) |
L12Q |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,704,613 (GRCm39) |
R766H |
probably benign |
Het |
| Mthfr |
G |
T |
4: 148,128,978 (GRCm39) |
E225* |
probably null |
Het |
| Mtmr11 |
T |
C |
3: 96,076,403 (GRCm39) |
F453L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,087 (GRCm39) |
N650D |
probably damaging |
Het |
| Nek3 |
C |
T |
8: 22,618,742 (GRCm39) |
G497R |
unknown |
Het |
| Nol4 |
G |
T |
18: 22,828,053 (GRCm39) |
A337E |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,882 (GRCm39) |
T1606A |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,288,633 (GRCm39) |
T78K |
probably benign |
Het |
| Or2ab1 |
G |
A |
11: 58,488,927 (GRCm39) |
R229H |
probably benign |
Het |
| Or4a71 |
T |
C |
2: 89,358,214 (GRCm39) |
N180S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,760 (GRCm39) |
C95Y |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,631,259 (GRCm39) |
Y97C |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,125,548 (GRCm39) |
D10G |
probably benign |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,783,119 (GRCm39) |
S972A |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,606,865 (GRCm39) |
M304K |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,397,912 (GRCm39) |
I281V |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,770,197 (GRCm39) |
G509E |
possibly damaging |
Het |
| Sap30l |
A |
G |
11: 57,696,936 (GRCm39) |
R89G |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,922,928 (GRCm39) |
R124W |
probably damaging |
Het |
| Shcbp1l |
A |
T |
1: 153,328,011 (GRCm39) |
N574I |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,267 (GRCm39) |
I791V |
probably benign |
Het |
| Stard13 |
C |
T |
5: 150,986,961 (GRCm39) |
S183N |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,267 (GRCm39) |
M177T |
possibly damaging |
Het |
| Tpbg |
A |
G |
9: 85,726,574 (GRCm39) |
N181S |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,664 (GRCm39) |
V381D |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,629,357 (GRCm39) |
D735G |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,322,007 (GRCm39) |
D230V |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,634,053 (GRCm39) |
V2116E |
|
Het |
| Zfp616 |
G |
A |
11: 73,976,283 (GRCm39) |
G851S |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,600 (GRCm39) |
E623* |
probably null |
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 |
|
|
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 |
|
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'- GGAGACAGACAACAAGTGCTTC -3'
(R):5'- TCCAGAGGACTAGTTGTAGGTG -3'
Sequencing Primer
(F):5'- ACAAGTGCTTCTACCGTGAG -3'
(R):5'- TACAGATGCATCGGTGGGCTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation