Incidental Mutation 'R9482:Galntl6'
| ID |
716306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galntl6
|
| Ensembl Gene |
ENSMUSG00000096914 |
| Gene Name |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 |
| Synonyms |
4930431L04Rik, 1700021K10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R9482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
58227086-59365674 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 58310549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204128]
[ENSMUST00000204128]
|
| AlphaFold |
E5D8G1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098757
|
| SMART Domains |
Protein: ENSMUSP00000096353
Gene: ENSMUSG00000096914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
1 |
144 |
1.6e-18 |
PFAM |
|
Pfam:Glyco_transf_7C
|
113 |
187 |
3.6e-12 |
PFAM |
|
RICIN
|
268 |
401 |
7.9e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204128
|
| SMART Domains |
Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
140 |
404 |
2.1e-9 |
PFAM |
|
Pfam:Glycos_transf_2
|
143 |
328 |
7.3e-33 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
143 |
356 |
1.2e-8 |
PFAM |
|
Pfam:Glyco_transf_7C
|
297 |
371 |
6.2e-12 |
PFAM |
|
RICIN
|
452 |
585 |
7.9e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204128
|
| SMART Domains |
Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
140 |
404 |
2.1e-9 |
PFAM |
|
Pfam:Glycos_transf_2
|
143 |
328 |
7.3e-33 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
143 |
356 |
1.2e-8 |
PFAM |
|
Pfam:Glyco_transf_7C
|
297 |
371 |
6.2e-12 |
PFAM |
|
RICIN
|
452 |
585 |
7.9e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,307,423 (GRCm39) |
V793A |
probably benign |
Het |
| Als2 |
G |
T |
1: 59,231,109 (GRCm39) |
P834Q |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,864,335 (GRCm39) |
T45A |
probably benign |
Het |
| Angptl7 |
T |
G |
4: 148,584,575 (GRCm39) |
S58R |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 44,979,481 (GRCm39) |
T7A |
probably benign |
Het |
| Bpifc |
A |
T |
10: 85,815,118 (GRCm39) |
S283T |
possibly damaging |
Het |
| C2cd2l |
T |
A |
9: 44,227,914 (GRCm39) |
E231V |
probably damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,894,504 (GRCm39) |
V83A |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,907,116 (GRCm39) |
E178G |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,143,106 (GRCm39) |
L1236Q |
probably benign |
Het |
| Dleu7 |
T |
C |
14: 62,514,351 (GRCm39) |
*210W |
probably null |
Het |
| Emc1 |
T |
G |
4: 139,088,201 (GRCm39) |
V323G |
probably damaging |
Het |
| Fcrla |
T |
C |
1: 170,745,949 (GRCm39) |
T278A |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,503,590 (GRCm39) |
T13A |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,305,186 (GRCm39) |
V203A |
possibly damaging |
Het |
| Gm3149 |
T |
A |
14: 15,698,287 (GRCm39) |
V169E |
probably benign |
Het |
| Hjurp |
CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA |
C |
1: 88,193,996 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,610,281 (GRCm39) |
S1463P |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,545,259 (GRCm39) |
D12E |
probably benign |
Het |
| Jsrp1 |
A |
T |
10: 80,644,734 (GRCm39) |
I224N |
possibly damaging |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
T |
14: 23,441,033 (GRCm39) |
M591K |
probably benign |
Het |
| Kmt2d |
A |
C |
15: 98,763,046 (GRCm39) |
W268G |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,447,710 (GRCm39) |
S417P |
unknown |
Het |
| Lpin3 |
T |
C |
2: 160,746,416 (GRCm39) |
F692L |
probably damaging |
Het |
| Mycbp |
T |
C |
4: 123,803,880 (GRCm39) |
C130R |
unknown |
Het |
| Myh1 |
T |
C |
11: 67,108,745 (GRCm39) |
I1387T |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,463,066 (GRCm39) |
D1333G |
probably benign |
Het |
| Nedd4l |
G |
T |
18: 65,021,031 (GRCm39) |
|
probably benign |
Het |
| Nucks1 |
A |
G |
1: 131,846,744 (GRCm39) |
N7D |
probably benign |
Het |
| Nup210 |
A |
G |
6: 91,019,608 (GRCm39) |
I991T |
probably damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,953 (GRCm39) |
G39D |
probably damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,434,736 (GRCm39) |
D234G |
probably damaging |
Het |
| Phyh |
C |
T |
2: 4,923,863 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,961,289 (GRCm39) |
T1070I |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,351,129 (GRCm39) |
L305F |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,708,933 (GRCm39) |
D100G |
probably benign |
Het |
| Rb1 |
A |
C |
14: 73,443,493 (GRCm39) |
M754R |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,669,208 (GRCm39) |
Q568R |
possibly damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,281,206 (GRCm39) |
S41P |
possibly damaging |
Het |
| Serf2 |
C |
A |
2: 121,281,205 (GRCm39) |
D40E |
possibly damaging |
Het |
| Sh2b1 |
AGCTC |
AGCTCAGCCACGGGGACCCGCTC |
7: 126,066,768 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 18,771,986 (GRCm39) |
R350L |
possibly damaging |
Het |
| Tab2 |
C |
A |
10: 7,795,124 (GRCm39) |
V379L |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,743,666 (GRCm39) |
T485P |
probably benign |
Het |
| Trmt6 |
T |
C |
2: 132,648,699 (GRCm39) |
T412A |
probably benign |
Het |
| Vgll3 |
A |
G |
16: 65,636,229 (GRCm39) |
T182A |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,084,652 (GRCm39) |
S80P |
probably damaging |
Het |
| Zfp1004 |
C |
A |
2: 150,034,711 (GRCm39) |
T344K |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,291,239 (GRCm39) |
L2122S |
probably damaging |
Het |
|
| Other mutations in Galntl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Galntl6
|
APN |
8 |
58,310,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00557:Galntl6
|
APN |
8 |
59,364,451 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01140:Galntl6
|
APN |
8 |
58,411,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Galntl6
|
APN |
8 |
58,230,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01458:Galntl6
|
APN |
8 |
58,880,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01575:Galntl6
|
APN |
8 |
58,880,710 (GRCm39) |
intron |
probably benign |
|
|
IGL01700:Galntl6
|
APN |
8 |
58,411,494 (GRCm39) |
splice site |
probably benign |
|
|
IGL01710:Galntl6
|
APN |
8 |
58,989,002 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02611:Galntl6
|
APN |
8 |
58,411,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02880:Galntl6
|
APN |
8 |
58,257,306 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03129:Galntl6
|
APN |
8 |
58,880,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03215:Galntl6
|
APN |
8 |
59,364,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03249:Galntl6
|
APN |
8 |
58,230,210 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Fragilistic
|
UTSW |
8 |
58,989,018 (GRCm39) |
missense |
probably benign |
|
|
Indubitably
|
UTSW |
8 |
58,880,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Galntl6
|
UTSW |
8 |
58,310,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Galntl6
|
UTSW |
8 |
58,290,217 (GRCm39) |
splice site |
probably null |
|
|
R0731:Galntl6
|
UTSW |
8 |
58,989,018 (GRCm39) |
missense |
probably benign |
|
|
R0961:Galntl6
|
UTSW |
8 |
59,364,374 (GRCm39) |
missense |
probably benign |
|
|
R1381:Galntl6
|
UTSW |
8 |
58,925,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2137:Galntl6
|
UTSW |
8 |
58,988,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4632:Galntl6
|
UTSW |
8 |
58,880,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Galntl6
|
UTSW |
8 |
58,880,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Galntl6
|
UTSW |
8 |
58,880,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Galntl6
|
UTSW |
8 |
58,880,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Galntl6
|
UTSW |
8 |
58,880,807 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4964:Galntl6
|
UTSW |
8 |
59,152,945 (GRCm39) |
intron |
probably benign |
|
|
R5357:Galntl6
|
UTSW |
8 |
58,337,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5526:Galntl6
|
UTSW |
8 |
58,926,004 (GRCm39) |
missense |
probably benign |
|
|
R5951:Galntl6
|
UTSW |
8 |
58,415,436 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5965:Galntl6
|
UTSW |
8 |
58,310,565 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6260:Galntl6
|
UTSW |
8 |
58,337,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Galntl6
|
UTSW |
8 |
59,364,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Galntl6
|
UTSW |
8 |
58,880,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Galntl6
|
UTSW |
8 |
58,230,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Galntl6
|
UTSW |
8 |
58,880,733 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7833:Galntl6
|
UTSW |
8 |
58,310,571 (GRCm39) |
missense |
probably benign |
|
|
R7871:Galntl6
|
UTSW |
8 |
58,290,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8097:Galntl6
|
UTSW |
8 |
58,415,407 (GRCm39) |
splice site |
probably null |
|
|
R8891:Galntl6
|
UTSW |
8 |
58,415,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Galntl6
|
UTSW |
8 |
58,310,590 (GRCm39) |
nonsense |
probably null |
|
|
R9196:Galntl6
|
UTSW |
8 |
58,415,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Galntl6
|
UTSW |
8 |
58,415,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:Galntl6
|
UTSW |
8 |
58,411,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9474:Galntl6
|
UTSW |
8 |
58,230,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9497:Galntl6
|
UTSW |
8 |
58,290,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Galntl6
|
UTSW |
8 |
58,310,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAAAACCCGTCACAGTTAAT -3'
(R):5'- TTGTTGACTTCACTGTTTGGAAA -3'
Sequencing Primer
(F):5'- TTTCTGGCAGACAGTGTC -3'
(R):5'- TGGAACATGATCATCTGGCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation