Incidental Mutation 'IGL01140:Galntl6'
ID |
51824 |
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 # |
IGL01140
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
58227086-59365674 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58411356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 291
(R291S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204128]
|
AlphaFold |
E5D8G1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000098757
AA Change: R106S
|
SMART Domains |
Protein: ENSMUSP00000096353 Gene: ENSMUSG00000096914 AA Change: R106S
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 damaging
Transcript: ENSMUST00000204128
AA Change: R291S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145321 Gene: ENSMUSG00000096914 AA Change: R291S
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afm |
A |
G |
5: 90,672,726 (GRCm39) |
E187G |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,256,317 (GRCm39) |
V205A |
probably damaging |
Het |
Atg16l1 |
A |
G |
1: 87,702,575 (GRCm39) |
I279V |
probably benign |
Het |
Atp2b2 |
C |
T |
6: 113,766,932 (GRCm39) |
V436I |
possibly damaging |
Het |
Cald1 |
T |
A |
6: 34,739,196 (GRCm39) |
S640T |
possibly damaging |
Het |
Cdc23 |
A |
G |
18: 34,769,385 (GRCm39) |
Y460H |
probably benign |
Het |
Cenpk |
T |
A |
13: 104,372,742 (GRCm39) |
|
probably benign |
Het |
Ctss |
A |
G |
3: 95,446,036 (GRCm39) |
E52G |
probably damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,523 (GRCm39) |
C365S |
probably damaging |
Het |
Cyp2c55 |
T |
C |
19: 39,007,093 (GRCm39) |
L163P |
probably benign |
Het |
Cyp4f37 |
T |
C |
17: 32,848,027 (GRCm39) |
S182P |
probably benign |
Het |
Flt4 |
G |
T |
11: 49,525,770 (GRCm39) |
E740* |
probably null |
Het |
Hydin |
G |
A |
8: 111,124,694 (GRCm39) |
V568I |
probably benign |
Het |
Ift70a1 |
A |
G |
2: 75,810,259 (GRCm39) |
V608A |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,220,705 (GRCm39) |
K145R |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,109,928 (GRCm39) |
V2183A |
probably benign |
Het |
Lrmda |
C |
T |
14: 22,646,585 (GRCm39) |
A75V |
possibly damaging |
Het |
Mbtd1 |
A |
G |
11: 93,815,258 (GRCm39) |
E282G |
probably damaging |
Het |
Muc19 |
A |
T |
15: 91,783,593 (GRCm39) |
|
noncoding transcript |
Het |
Mug1 |
A |
G |
6: 121,859,693 (GRCm39) |
T1231A |
probably benign |
Het |
Nkpd1 |
A |
G |
7: 19,257,387 (GRCm39) |
T389A |
possibly damaging |
Het |
Nudt19 |
A |
G |
7: 35,247,336 (GRCm39) |
*358Q |
probably null |
Het |
Nup160 |
G |
T |
2: 90,530,909 (GRCm39) |
M522I |
possibly damaging |
Het |
Obsl1 |
T |
A |
1: 75,466,400 (GRCm39) |
|
probably benign |
Het |
Or4m1 |
T |
A |
14: 50,557,732 (GRCm39) |
I187F |
probably damaging |
Het |
Or5ak24 |
T |
C |
2: 85,260,484 (GRCm39) |
T230A |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,457,151 (GRCm39) |
T137I |
possibly damaging |
Het |
Osbpl10 |
C |
T |
9: 115,005,070 (GRCm39) |
P341S |
probably benign |
Het |
Papola |
C |
A |
12: 105,775,856 (GRCm39) |
C7* |
probably null |
Het |
Pld1 |
C |
A |
3: 28,132,386 (GRCm39) |
L525I |
probably benign |
Het |
Prom2 |
T |
C |
2: 127,373,125 (GRCm39) |
|
probably benign |
Het |
Psmb5 |
G |
A |
14: 54,855,264 (GRCm39) |
T62I |
possibly damaging |
Het |
Sag |
A |
G |
1: 87,751,086 (GRCm39) |
E184G |
probably benign |
Het |
Slc16a10 |
T |
C |
10: 39,952,921 (GRCm39) |
Y191C |
probably damaging |
Het |
Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
Ssx2ip |
A |
G |
3: 146,133,598 (GRCm39) |
Y231C |
probably benign |
Het |
Trib1 |
A |
G |
15: 59,523,476 (GRCm39) |
Y170C |
probably damaging |
Het |
Trmt10a |
G |
A |
3: 137,862,459 (GRCm39) |
|
probably benign |
Het |
Troap |
G |
T |
15: 98,980,027 (GRCm39) |
Q402H |
probably damaging |
Het |
Vmn2r70 |
G |
A |
7: 85,214,379 (GRCm39) |
Q258* |
probably null |
Het |
Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
Zmym1 |
A |
G |
4: 126,943,435 (GRCm39) |
F318L |
probably damaging |
Het |
Zswim2 |
A |
G |
2: 83,745,672 (GRCm39) |
S589P |
probably benign |
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 |
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 |
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 |
2013-06-21 |