Incidental Mutation 'R6368:Galntl6'
ID |
512792 |
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 |
044518-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R6368 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
58227086-59365674 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 59364475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 12
(T12P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062978]
[ENSMUST00000146513]
[ENSMUST00000160055]
[ENSMUST00000203398]
[ENSMUST00000204128]
|
AlphaFold |
E5D8G1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062978
|
SMART Domains |
Protein: ENSMUSP00000131717 Gene: ENSMUSG00000049946
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
58 |
N/A |
INTRINSIC |
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
|
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 damaging
Transcript: ENSMUST00000146513
AA Change: T12P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118306 Gene: ENSMUSG00000096914 AA Change: T12P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160055
|
SMART Domains |
Protein: ENSMUSP00000130369 Gene: ENSMUSG00000049946
Domain | Start | End | E-Value | Type |
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
low complexity region
|
156 |
165 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203398
AA Change: T12P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145298 Gene: ENSMUSG00000096914 AA Change: T12P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204128
AA Change: T12P
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000145321 Gene: ENSMUSG00000096914 AA Change: T12P
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
C |
A |
9: 55,897,416 (GRCm39) |
E272D |
possibly damaging |
Het |
Abi2 |
A |
G |
1: 60,492,810 (GRCm39) |
T158A |
possibly damaging |
Het |
Acacb |
T |
C |
5: 114,354,884 (GRCm39) |
S1221P |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,069,578 (GRCm39) |
D370G |
probably benign |
Het |
Apeh |
A |
G |
9: 107,964,442 (GRCm39) |
I487T |
probably damaging |
Het |
Arid1b |
C |
A |
17: 5,382,808 (GRCm39) |
N1297K |
possibly damaging |
Het |
Ascc3 |
G |
A |
10: 50,576,081 (GRCm39) |
G779S |
probably damaging |
Het |
Atp7b |
A |
C |
8: 22,510,771 (GRCm39) |
|
probably null |
Het |
Bsn |
C |
T |
9: 107,988,513 (GRCm39) |
|
probably benign |
Het |
Caps2 |
C |
T |
10: 112,030,873 (GRCm39) |
Q268* |
probably null |
Het |
Cnfn |
C |
T |
7: 25,067,386 (GRCm39) |
|
probably null |
Het |
Cr2 |
A |
G |
1: 194,850,780 (GRCm39) |
S229P |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,435,806 (GRCm39) |
Y1050C |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,480,934 (GRCm39) |
E307G |
probably damaging |
Het |
Cyb5r3 |
A |
C |
15: 83,044,325 (GRCm39) |
Y182D |
possibly damaging |
Het |
Dclre1a |
A |
T |
19: 56,535,223 (GRCm39) |
H120Q |
probably benign |
Het |
Ddx6 |
T |
C |
9: 44,547,073 (GRCm39) |
I457T |
probably damaging |
Het |
E2f1 |
A |
T |
2: 154,406,396 (GRCm39) |
H93Q |
possibly damaging |
Het |
Fam186a |
T |
C |
15: 99,841,198 (GRCm39) |
K1682R |
possibly damaging |
Het |
Farsb |
A |
G |
1: 78,443,602 (GRCm39) |
|
probably null |
Het |
Flii |
A |
T |
11: 60,611,962 (GRCm39) |
L347Q |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm21680 |
T |
C |
5: 26,174,034 (GRCm39) |
N190S |
probably damaging |
Het |
Ifit1bl2 |
T |
C |
19: 34,596,525 (GRCm39) |
S364G |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,400,345 (GRCm39) |
I234T |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,526,945 (GRCm39) |
C356R |
probably damaging |
Het |
Kel |
A |
T |
6: 41,665,785 (GRCm39) |
C174* |
probably null |
Het |
Krt16 |
T |
A |
11: 100,137,502 (GRCm39) |
D401V |
probably damaging |
Het |
Ltb4r1 |
A |
C |
14: 56,005,200 (GRCm39) |
I168L |
probably benign |
Het |
Luzp1 |
T |
A |
4: 136,269,091 (GRCm39) |
M438K |
probably benign |
Het |
Mtf1 |
C |
T |
4: 124,718,145 (GRCm39) |
T281M |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,832,231 (GRCm39) |
S2587T |
probably benign |
Het |
Or13a21 |
G |
T |
7: 139,999,580 (GRCm39) |
Y35* |
probably null |
Het |
Or1ad1 |
T |
A |
11: 50,875,613 (GRCm39) |
F28L |
probably benign |
Het |
Or4f58 |
A |
T |
2: 111,851,896 (GRCm39) |
I101N |
probably damaging |
Het |
Or7e169 |
T |
C |
9: 19,757,705 (GRCm39) |
D70G |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,746,581 (GRCm39) |
F1221Y |
probably benign |
Het |
Pnldc1 |
A |
T |
17: 13,124,751 (GRCm39) |
N90K |
probably damaging |
Het |
Prickle2 |
A |
T |
6: 92,397,218 (GRCm39) |
L169Q |
probably damaging |
Het |
Ralgps2 |
A |
T |
1: 156,712,144 (GRCm39) |
L147I |
probably damaging |
Het |
Rfx3 |
A |
T |
19: 27,746,009 (GRCm39) |
L674Q |
possibly damaging |
Het |
Rpl3 |
C |
A |
15: 79,966,745 (GRCm39) |
L14F |
probably damaging |
Het |
Rrbp1 |
C |
T |
2: 143,831,475 (GRCm39) |
G231R |
probably damaging |
Het |
Sema3d |
C |
T |
5: 12,620,980 (GRCm39) |
L529F |
probably damaging |
Het |
Slain1 |
A |
T |
14: 103,894,391 (GRCm39) |
T193S |
probably benign |
Het |
Slc2a6 |
G |
T |
2: 26,914,599 (GRCm39) |
Q256K |
possibly damaging |
Het |
Slk |
A |
G |
19: 47,608,622 (GRCm39) |
E525G |
possibly damaging |
Het |
Spsb4 |
G |
T |
9: 96,826,698 (GRCm39) |
Q252K |
probably benign |
Het |
Taf1b |
A |
G |
12: 24,608,256 (GRCm39) |
T552A |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,802,945 (GRCm39) |
|
probably null |
Het |
Tph2 |
T |
C |
10: 115,015,231 (GRCm39) |
H177R |
probably damaging |
Het |
Ttll1 |
A |
G |
15: 83,373,818 (GRCm39) |
S332P |
probably damaging |
Het |
Twf2 |
T |
G |
9: 106,090,032 (GRCm39) |
N128K |
probably benign |
Het |
Vegfc |
T |
A |
8: 54,634,265 (GRCm39) |
C315S |
probably damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,790,889 (GRCm39) |
K136N |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,214,814 (GRCm39) |
E496G |
probably damaging |
Het |
Zfp148 |
C |
A |
16: 33,317,568 (GRCm39) |
Q705K |
probably damaging |
Het |
Zw10 |
C |
T |
9: 48,984,535 (GRCm39) |
A539V |
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 |
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'- GTCCCTGTATTCAGTCCTATGAGG -3'
(R):5'- TGAACCCTGCAGATTGGTGC -3'
Sequencing Primer
(F):5'- TCCTATGAGGACTTGGGAGAAACTC -3'
(R):5'- CCTGCAGATTGGTGCTGAGC -3'
|
Posted On |
2018-04-27 |