Incidental Mutation 'R0961:Galntl6'
| ID |
81885 |
| 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 |
039090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R0961 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
58227086-59365674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59364374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 45
(H45Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145321
(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 benign
Transcript: ENSMUST00000146513
AA Change: H45Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118306
Gene: ENSMUSG00000096914
AA Change: H45Q
| 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 |
probably benign
Transcript: ENSMUST00000203398
AA Change: H45Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145298
Gene: ENSMUSG00000096914
AA Change: H45Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204128
AA Change: H45Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
AA Change: H45Q
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.6%
- 20x: 89.7%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
C |
2: 151,314,686 (GRCm39) |
S331A |
probably benign |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4933412E24Rik |
T |
C |
15: 59,887,160 (GRCm39) |
I427V |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,960,208 (GRCm39) |
K664* |
probably null |
Het |
| Adcy8 |
A |
G |
15: 64,626,711 (GRCm39) |
V709A |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,349,230 (GRCm39) |
D665E |
probably benign |
Het |
| Arhgap22 |
C |
T |
14: 33,089,070 (GRCm39) |
T352M |
probably damaging |
Het |
| Atg9a |
G |
A |
1: 75,163,390 (GRCm39) |
L237F |
probably damaging |
Het |
| Ccdc178 |
T |
G |
18: 22,152,098 (GRCm39) |
K672T |
possibly damaging |
Het |
| Ccdc63 |
T |
G |
5: 122,249,009 (GRCm39) |
K440T |
possibly damaging |
Het |
| Cd55b |
A |
T |
1: 130,341,813 (GRCm39) |
W275R |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,686,297 (GRCm39) |
|
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,195 (GRCm39) |
D204E |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,812,964 (GRCm39) |
V148A |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,694,531 (GRCm39) |
V610E |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,577 (GRCm39) |
I842N |
probably damaging |
Het |
| Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
| Fzd6 |
C |
T |
15: 38,889,073 (GRCm39) |
L64F |
probably damaging |
Het |
| Gbp7 |
C |
A |
3: 142,247,318 (GRCm39) |
S276* |
probably null |
Het |
| Gnb5 |
A |
T |
9: 75,242,933 (GRCm39) |
I168F |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,805,403 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
C |
T |
8: 23,670,927 (GRCm39) |
C95Y |
probably damaging |
Het |
| Gstm7 |
T |
A |
3: 107,834,302 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,755,745 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kank4 |
G |
A |
4: 98,644,756 (GRCm39) |
R999W |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,379,219 (GRCm39) |
V92A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,639,974 (GRCm39) |
D89G |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,378 (GRCm39) |
T103A |
probably benign |
Het |
| Lamc1 |
CGCTGGC |
CGC |
1: 153,097,392 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
G |
T |
1: 153,097,446 (GRCm39) |
L1533I |
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,962,560 (GRCm39) |
H455R |
possibly damaging |
Het |
| Lmo7 |
C |
A |
14: 102,031,705 (GRCm39) |
T33K |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,640,895 (GRCm39) |
|
probably benign |
Het |
| Mep1b |
T |
A |
18: 21,221,786 (GRCm39) |
Y245* |
probably null |
Het |
| Mettl24 |
A |
G |
10: 40,686,615 (GRCm39) |
T331A |
possibly damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,422,271 (GRCm39) |
D2467E |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,773,280 (GRCm39) |
S1871P |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,165,193 (GRCm39) |
L502P |
possibly damaging |
Het |
| Npr1 |
T |
C |
3: 90,366,028 (GRCm39) |
N588D |
possibly damaging |
Het |
| Or2g7 |
T |
A |
17: 38,378,814 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or8k16 |
A |
T |
2: 85,519,790 (GRCm39) |
T6S |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,105,731 (GRCm39) |
S112P |
probably benign |
Het |
| R3hdm1 |
C |
T |
1: 128,121,333 (GRCm39) |
T279I |
probably benign |
Het |
| Rere |
A |
G |
4: 150,699,829 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,709,122 (GRCm39) |
E4779V |
unknown |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,399,484 (GRCm39) |
H392R |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,585,618 (GRCm39) |
T477A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,618 (GRCm39) |
V922A |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,870,075 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,523,920 (GRCm39) |
D705G |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,734,188 (GRCm39) |
S288T |
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,800,509 (GRCm39) |
|
probably null |
Het |
| Usp18 |
G |
A |
6: 121,238,452 (GRCm39) |
A200T |
probably benign |
Het |
| Zfp759 |
A |
T |
13: 67,287,927 (GRCm39) |
T493S |
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 |
|
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 |
|
|
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'- TCACCATTCACCGTGTCATGAGC -3'
(R):5'- CTTCCCAGGAAAGAGGAAAGGACTTTG -3'
Sequencing Primer
(F):5'- GTGTCATGAGCTGCAAACC -3'
(R):5'- GTAGTCTGGGAGACATCTCTAAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation