Incidental Mutation 'IGL01412:Galntl6'
ID |
80068 |
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: 0.079)
|
Stock # |
IGL01412
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
58227086-59365674 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58230328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 30
(E30V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204067]
[ENSMUST00000204128]
|
AlphaFold |
E5D8G1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000098757
AA Change: E380V
|
SMART Domains |
Protein: ENSMUSP00000096353 Gene: ENSMUSG00000096914 AA Change: E380V
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: ENSMUST00000204067
AA Change: E30V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000145016 Gene: ENSMUSG00000096914 AA Change: E30V
Domain | Start | End | E-Value | Type |
Pfam:Ricin_B_lectin
|
1 |
47 |
6.2e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204128
AA Change: E565V
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000145321 Gene: ENSMUSG00000096914 AA Change: E565V
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
G |
A |
15: 12,815,958 (GRCm39) |
Q222* |
probably null |
Het |
Adamts2 |
A |
G |
11: 50,686,230 (GRCm39) |
E1016G |
probably benign |
Het |
Agmo |
G |
A |
12: 37,452,140 (GRCm39) |
E269K |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,255,491 (GRCm39) |
|
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,473,621 (GRCm39) |
L794Q |
possibly damaging |
Het |
Asb14 |
T |
A |
14: 26,637,022 (GRCm39) |
L588H |
probably damaging |
Het |
Btbd16 |
A |
T |
7: 130,407,549 (GRCm39) |
|
probably null |
Het |
Cacna1h |
T |
C |
17: 25,610,924 (GRCm39) |
K625E |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,150,473 (GRCm39) |
D2499G |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,873,707 (GRCm39) |
D687V |
probably damaging |
Het |
Cops8 |
G |
T |
1: 90,532,153 (GRCm39) |
L45F |
possibly damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,071,843 (GRCm39) |
H929R |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,492,962 (GRCm39) |
E1241G |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,780,040 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,380,518 (GRCm39) |
I8V |
probably benign |
Het |
Dst |
T |
C |
1: 34,281,701 (GRCm39) |
V5435A |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,945,330 (GRCm39) |
I1408V |
probably benign |
Het |
Fhit |
G |
T |
14: 9,870,065 (GRCm38) |
H72N |
probably damaging |
Het |
Foxp2 |
C |
A |
6: 15,376,757 (GRCm39) |
|
probably benign |
Het |
Fpgt |
T |
C |
3: 154,792,359 (GRCm39) |
Q556R |
probably benign |
Het |
Gemin4 |
A |
T |
11: 76,104,311 (GRCm39) |
V150D |
probably benign |
Het |
Grm8 |
C |
T |
6: 27,762,460 (GRCm39) |
R255H |
probably damaging |
Het |
Hapln3 |
G |
A |
7: 78,767,184 (GRCm39) |
|
probably null |
Het |
Htt |
T |
A |
5: 35,055,916 (GRCm39) |
L2609Q |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,021,731 (GRCm39) |
|
probably benign |
Het |
Isx |
T |
C |
8: 75,619,306 (GRCm39) |
L166P |
probably benign |
Het |
Kcnt2 |
G |
A |
1: 140,498,155 (GRCm39) |
M884I |
probably benign |
Het |
Leo1 |
A |
G |
9: 75,373,524 (GRCm39) |
N650D |
probably benign |
Het |
Man1a |
A |
G |
10: 53,950,810 (GRCm39) |
V195A |
probably benign |
Het |
Map2k5 |
A |
T |
9: 63,200,988 (GRCm39) |
I215N |
probably damaging |
Het |
Mier2 |
A |
G |
10: 79,377,014 (GRCm39) |
*542R |
probably null |
Het |
Mrgbp |
T |
A |
2: 180,225,209 (GRCm39) |
F55Y |
probably damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,362,527 (GRCm39) |
|
probably null |
Het |
Nedd9 |
A |
T |
13: 41,469,262 (GRCm39) |
Y630* |
probably null |
Het |
Nrp1 |
T |
C |
8: 129,145,188 (GRCm39) |
|
probably benign |
Het |
Or4k15b |
A |
G |
14: 50,272,770 (GRCm39) |
I30T |
probably benign |
Het |
Or51q1c |
T |
A |
7: 103,652,842 (GRCm39) |
M120K |
probably damaging |
Het |
Or52z12 |
A |
G |
7: 103,234,114 (GRCm39) |
N295S |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,461 (GRCm39) |
L292Q |
probably damaging |
Het |
Or7g21 |
T |
A |
9: 19,032,895 (GRCm39) |
C212S |
probably benign |
Het |
Pcnx1 |
A |
T |
12: 81,953,239 (GRCm39) |
I127F |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,364,329 (GRCm39) |
E130G |
possibly damaging |
Het |
Pkd1l1 |
G |
T |
11: 8,900,409 (GRCm39) |
T44N |
possibly damaging |
Het |
Polr1c |
A |
G |
17: 46,555,135 (GRCm39) |
S226P |
probably damaging |
Het |
Pramel28 |
A |
C |
4: 143,691,565 (GRCm39) |
V386G |
probably damaging |
Het |
Prep |
A |
G |
10: 45,029,208 (GRCm39) |
Y536C |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
Pwwp3a |
T |
A |
10: 80,070,163 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,756,922 (GRCm39) |
K1577N |
probably benign |
Het |
Selplg |
G |
T |
5: 113,957,529 (GRCm39) |
T33K |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,020,734 (GRCm39) |
I505L |
probably damaging |
Het |
Slc39a6 |
T |
C |
18: 24,718,413 (GRCm39) |
N548S |
probably damaging |
Het |
Sp7 |
T |
C |
15: 102,267,798 (GRCm39) |
T3A |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,545,131 (GRCm39) |
V998A |
probably benign |
Het |
Tas2r130 |
A |
T |
6: 131,607,473 (GRCm39) |
Y107* |
probably null |
Het |
Tjp2 |
T |
C |
19: 24,078,139 (GRCm39) |
E918G |
probably damaging |
Het |
Trim12a |
C |
T |
7: 103,956,202 (GRCm39) |
A113T |
probably benign |
Het |
Zan |
T |
A |
5: 137,391,294 (GRCm39) |
D4730V |
unknown |
Het |
Zfp607a |
A |
T |
7: 27,578,109 (GRCm39) |
D393V |
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 |
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 |
2013-11-05 |