Incidental Mutation 'PIT4677001:Galntl6'
| ID |
556556 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
PIT4677001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
58227086-59365674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58310621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 360
(C360Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204128]
|
| AlphaFold |
E5D8G1 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000096353
Gene: ENSMUSG00000096914
AA Change: C175Y
| 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: C360Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
AA Change: C360Y
| 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: 93.3%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 71.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
A |
2: 127,028,933 (GRCm39) |
T89S |
probably benign |
Het |
| 4921517D22Rik |
A |
T |
13: 59,838,305 (GRCm39) |
F176I |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,374,340 (GRCm39) |
D264G |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,286,896 (GRCm39) |
F834I |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,856,583 (GRCm39) |
M171L |
probably benign |
Het |
| Arid5b |
A |
T |
10: 67,933,841 (GRCm39) |
M687K |
probably damaging |
Het |
| AU040320 |
A |
T |
4: 126,686,030 (GRCm39) |
Q202L |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,099,034 (GRCm39) |
L219P |
probably damaging |
Het |
| Cfhr2 |
T |
G |
1: 139,733,117 (GRCm39) |
S301R |
unknown |
Het |
| Cog2 |
T |
A |
8: 125,272,010 (GRCm39) |
V508E |
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,493,463 (GRCm39) |
T47A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,425,288 (GRCm39) |
K692I |
possibly damaging |
Het |
| Defb34 |
A |
T |
8: 19,176,412 (GRCm39) |
R34S |
possibly damaging |
Het |
| Fads2 |
A |
T |
19: 10,047,694 (GRCm39) |
I275N |
probably damaging |
Het |
| Fmn2 |
T |
G |
1: 174,474,699 (GRCm39) |
S1221A |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,812,035 (GRCm39) |
V302E |
probably benign |
Het |
| Gm16519 |
A |
T |
17: 71,236,506 (GRCm39) |
I152F |
probably benign |
Het |
| Hnrnpr |
T |
A |
4: 136,056,750 (GRCm39) |
V250D |
probably damaging |
Het |
| Hs3st6 |
A |
G |
17: 24,977,285 (GRCm39) |
D255G |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,113 (GRCm39) |
Y657H |
possibly damaging |
Het |
| Ino80 |
C |
T |
2: 119,208,026 (GRCm39) |
V1422M |
probably benign |
Het |
| Insyn2b |
A |
T |
11: 34,353,122 (GRCm39) |
N388I |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,396,021 (GRCm39) |
I669V |
probably benign |
Het |
| Layn |
A |
T |
9: 50,968,711 (GRCm39) |
V344E |
probably damaging |
Het |
| Mgll |
A |
T |
6: 88,802,663 (GRCm39) |
R273W |
possibly damaging |
Het |
| Myh2 |
G |
A |
11: 67,072,818 (GRCm39) |
S636N |
probably benign |
Het |
| Nmur2 |
A |
T |
11: 55,923,835 (GRCm39) |
S240T |
probably benign |
Het |
| Pkd1 |
T |
G |
17: 24,793,003 (GRCm39) |
S1563R |
possibly damaging |
Het |
| Ppp4r3b |
G |
A |
11: 29,137,978 (GRCm39) |
V109I |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,648 (GRCm39) |
D547E |
probably damaging |
Het |
| Prss46 |
A |
T |
9: 110,685,098 (GRCm39) |
M241L |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,070,809 (GRCm39) |
I1397F |
probably damaging |
Het |
| Pus10 |
A |
T |
11: 23,670,171 (GRCm39) |
T418S |
possibly damaging |
Het |
| Qsox2 |
T |
C |
2: 26,112,320 (GRCm39) |
D74G |
probably damaging |
Het |
| Sctr |
T |
C |
1: 119,989,634 (GRCm39) |
V383A |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,914,677 (GRCm39) |
N1480Y |
probably damaging |
Het |
| Skint2 |
T |
C |
4: 112,483,135 (GRCm39) |
I180T |
probably benign |
Het |
| Snd1 |
A |
G |
6: 28,880,295 (GRCm39) |
I690V |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,624,435 (GRCm39) |
T575A |
probably damaging |
Het |
| Srbd1 |
G |
A |
17: 86,422,640 (GRCm39) |
R459* |
probably null |
Het |
| Tll2 |
C |
A |
19: 41,118,997 (GRCm39) |
V244L |
probably benign |
Het |
| Tmem60 |
A |
G |
5: 21,091,366 (GRCm39) |
I44V |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,542,448 (GRCm39) |
I1846F |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,880,636 (GRCm39) |
D430G |
|
Het |
| Vps8 |
T |
C |
16: 21,319,084 (GRCm39) |
F641S |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGACAGTGTCTTAGCTT -3'
(R):5'- TGTTGACTTCACTGTTTGGAAAATT -3'
Sequencing Primer
(F):5'- AGACAGTGTCTTAGCTTATCCCATG -3'
(R):5'- TGGAACATGATCATCTGGCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation