Incidental Mutation 'IGL01575:Galntl6'
ID |
91234 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galntl6
|
Ensembl Gene |
ENSMUSG00000096914 |
Gene Name |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 |
Synonyms |
4930431L04Rik, 1700021K10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL01575
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
58227086-59365674 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 58880710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146513]
[ENSMUST00000188531]
[ENSMUST00000204128]
|
AlphaFold |
E5D8G1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000077447
|
SMART Domains |
Protein: ENSMUSP00000076660 Gene: ENSMUSG00000061864
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
31 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
143 |
188 |
4.9e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146513
|
SMART Domains |
Protein: ENSMUSP00000118306 Gene: ENSMUSG00000096914
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188531
|
SMART Domains |
Protein: ENSMUSP00000139677 Gene: ENSMUSG00000096914
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
98 |
139 |
2.4e-7 |
PFAM |
|
Predicted Effect |
probably benign
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
C |
T |
2: 25,175,188 (GRCm39) |
|
probably benign |
Het |
Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
Boll |
A |
G |
1: 55,362,807 (GRCm39) |
|
probably null |
Het |
Cngb1 |
G |
A |
8: 95,991,148 (GRCm39) |
P226S |
possibly damaging |
Het |
Commd3 |
G |
A |
2: 18,679,528 (GRCm39) |
|
probably null |
Het |
Ddx46 |
C |
T |
13: 55,801,996 (GRCm39) |
|
probably benign |
Het |
Dmrtb1 |
A |
G |
4: 107,541,265 (GRCm39) |
I32T |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,466,979 (GRCm39) |
|
probably benign |
Het |
Dppa5a |
A |
G |
9: 78,275,062 (GRCm39) |
I80T |
possibly damaging |
Het |
Hmgcr |
A |
G |
13: 96,793,103 (GRCm39) |
Y510H |
possibly damaging |
Het |
Idua |
G |
T |
5: 108,829,973 (GRCm39) |
R505L |
possibly damaging |
Het |
Ifna15 |
A |
G |
4: 88,476,044 (GRCm39) |
F147L |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,118,599 (GRCm39) |
S433P |
probably damaging |
Het |
Kcnc1 |
T |
C |
7: 46,077,523 (GRCm39) |
Y442H |
possibly damaging |
Het |
Kmt2d |
A |
G |
15: 98,744,736 (GRCm39) |
|
probably benign |
Het |
Mpp7 |
A |
G |
18: 7,403,365 (GRCm39) |
|
probably benign |
Het |
Or14c39 |
T |
C |
7: 86,344,501 (GRCm39) |
V279A |
probably benign |
Het |
Or5p64 |
A |
C |
7: 107,854,742 (GRCm39) |
V201G |
possibly damaging |
Het |
Or6c75 |
A |
G |
10: 129,337,436 (GRCm39) |
I228V |
probably benign |
Het |
Pam16l |
T |
C |
10: 43,400,411 (GRCm39) |
V55A |
probably benign |
Het |
Phf14 |
T |
C |
6: 11,990,050 (GRCm39) |
L693S |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,792,102 (GRCm39) |
N1263S |
probably damaging |
Het |
Rhbdl1 |
G |
T |
17: 26,055,112 (GRCm39) |
A32E |
possibly damaging |
Het |
Samd9l |
A |
G |
6: 3,376,734 (GRCm39) |
S176P |
possibly damaging |
Het |
Scn1a |
G |
T |
2: 66,103,580 (GRCm39) |
F1893L |
probably damaging |
Het |
Serpina3f |
C |
A |
12: 104,184,699 (GRCm39) |
P281Q |
probably damaging |
Het |
Slc35a1 |
G |
T |
4: 34,668,932 (GRCm39) |
Q294K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,435,976 (GRCm39) |
S1154N |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,938,871 (GRCm39) |
S726P |
probably benign |
Het |
Tiam2 |
A |
T |
17: 3,504,591 (GRCm39) |
E24V |
probably damaging |
Het |
Tmf1 |
T |
C |
6: 97,152,897 (GRCm39) |
E392G |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,021,626 (GRCm39) |
V1089A |
probably damaging |
Het |
Tspyl1 |
C |
A |
10: 34,159,086 (GRCm39) |
N270K |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,913,628 (GRCm39) |
V901D |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,224,031 (GRCm39) |
I764V |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,300,152 (GRCm39) |
V186A |
probably damaging |
Het |
Zdhhc18 |
A |
G |
4: 133,341,210 (GRCm39) |
V221A |
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 |
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 |
R9482:Galntl6
|
UTSW |
8 |
58,310,549 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
Posted On |
2013-12-09 |