Incidental Mutation 'IGL01748:Galnt11'
ID |
153071 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galnt11
|
Ensembl Gene |
ENSMUSG00000038072 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 11 |
Synonyms |
A430075I06Rik, E430002F06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
IGL01748
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
25427732-25470916 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 25452513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 8
(Y8*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045737]
[ENSMUST00000114950]
[ENSMUST00000114952]
[ENSMUST00000144971]
|
AlphaFold |
Q921L8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045737
AA Change: Y8*
|
SMART Domains |
Protein: ENSMUSP00000036240 Gene: ENSMUSG00000038072 AA Change: Y8*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
151 |
386 |
5.3e-9 |
PFAM |
Pfam:Glycos_transf_2
|
154 |
337 |
3.7e-33 |
PFAM |
Pfam:Glyco_transf_7C
|
315 |
383 |
2.1e-9 |
PFAM |
RICIN
|
476 |
607 |
7.09e-23 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114950
AA Change: Y8*
|
SMART Domains |
Protein: ENSMUSP00000110600 Gene: ENSMUSG00000038072 AA Change: Y8*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
151 |
385 |
1.7e-10 |
PFAM |
Pfam:Glycos_transf_2
|
154 |
337 |
4.8e-29 |
PFAM |
Pfam:Glyco_transf_7C
|
314 |
383 |
3.5e-9 |
PFAM |
RICIN
|
476 |
607 |
7.09e-23 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114952
AA Change: Y8*
|
SMART Domains |
Protein: ENSMUSP00000110602 Gene: ENSMUSG00000038072 AA Change: Y8*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
151 |
385 |
1.7e-10 |
PFAM |
Pfam:Glycos_transf_2
|
154 |
337 |
4.8e-29 |
PFAM |
Pfam:Glyco_transf_7C
|
314 |
383 |
3.5e-9 |
PFAM |
RICIN
|
476 |
607 |
7.09e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144971
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
C |
15: 74,420,206 (GRCm39) |
|
probably benign |
Het |
Asb1 |
G |
A |
1: 91,480,008 (GRCm39) |
V236I |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,974,304 (GRCm39) |
R2337C |
probably benign |
Het |
Fermt3 |
A |
T |
19: 6,980,834 (GRCm39) |
|
probably null |
Het |
Foxred2 |
T |
C |
15: 77,836,546 (GRCm39) |
D323G |
probably damaging |
Het |
Fry |
A |
G |
5: 150,269,116 (GRCm39) |
|
probably benign |
Het |
Gm42688 |
T |
A |
6: 83,080,001 (GRCm39) |
S275T |
possibly damaging |
Het |
Grip2 |
C |
T |
6: 91,741,724 (GRCm39) |
G934R |
probably damaging |
Het |
Igkv1-122 |
G |
T |
6: 67,994,456 (GRCm39) |
V115F |
possibly damaging |
Het |
Iglon5 |
C |
T |
7: 43,125,953 (GRCm39) |
|
probably benign |
Het |
Nbl1 |
G |
T |
4: 138,810,921 (GRCm39) |
|
probably benign |
Het |
Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
Or4k41 |
T |
C |
2: 111,279,875 (GRCm39) |
L130P |
probably damaging |
Het |
Psg18 |
T |
C |
7: 18,087,476 (GRCm39) |
N61D |
probably benign |
Het |
Rfng |
A |
G |
11: 120,674,569 (GRCm39) |
M104T |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,456,150 (GRCm39) |
F1224S |
probably damaging |
Het |
Strn4 |
C |
T |
7: 16,572,227 (GRCm39) |
P647S |
probably damaging |
Het |
Tbc1d2 |
A |
G |
4: 46,616,306 (GRCm39) |
V474A |
probably damaging |
Het |
Trav13n-4 |
A |
T |
14: 53,601,470 (GRCm39) |
T80S |
probably benign |
Het |
Trrap |
A |
G |
5: 144,770,150 (GRCm39) |
E2757G |
probably damaging |
Het |
Vmn1r43 |
G |
T |
6: 89,847,294 (GRCm39) |
T64N |
probably damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,683,476 (GRCm39) |
I576N |
probably benign |
Het |
Vmn2r65 |
A |
T |
7: 84,589,507 (GRCm39) |
I803N |
probably damaging |
Het |
Zfp341 |
T |
C |
2: 154,470,847 (GRCm39) |
V288A |
probably damaging |
Het |
|
Other mutations in Galnt11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00326:Galnt11
|
APN |
5 |
25,453,829 (GRCm39) |
splice site |
probably benign |
|
IGL01553:Galnt11
|
APN |
5 |
25,452,718 (GRCm39) |
missense |
probably benign |
0.13 |
R0021:Galnt11
|
UTSW |
5 |
25,453,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R0021:Galnt11
|
UTSW |
5 |
25,453,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R0666:Galnt11
|
UTSW |
5 |
25,457,145 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0784:Galnt11
|
UTSW |
5 |
25,463,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R1136:Galnt11
|
UTSW |
5 |
25,463,943 (GRCm39) |
missense |
probably damaging |
0.98 |
R1168:Galnt11
|
UTSW |
5 |
25,455,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Galnt11
|
UTSW |
5 |
25,463,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R2033:Galnt11
|
UTSW |
5 |
25,452,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R2507:Galnt11
|
UTSW |
5 |
25,452,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Galnt11
|
UTSW |
5 |
25,452,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R4237:Galnt11
|
UTSW |
5 |
25,470,258 (GRCm39) |
missense |
probably benign |
0.02 |
R4944:Galnt11
|
UTSW |
5 |
25,470,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R5653:Galnt11
|
UTSW |
5 |
25,453,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R5917:Galnt11
|
UTSW |
5 |
25,452,670 (GRCm39) |
splice site |
probably null |
|
R6489:Galnt11
|
UTSW |
5 |
25,469,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R6696:Galnt11
|
UTSW |
5 |
25,460,112 (GRCm39) |
missense |
probably benign |
|
R6709:Galnt11
|
UTSW |
5 |
25,453,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R6881:Galnt11
|
UTSW |
5 |
25,455,097 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7034:Galnt11
|
UTSW |
5 |
25,463,811 (GRCm39) |
missense |
probably damaging |
0.99 |
R7036:Galnt11
|
UTSW |
5 |
25,463,811 (GRCm39) |
missense |
probably damaging |
0.99 |
R8734:Galnt11
|
UTSW |
5 |
25,455,222 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8992:Galnt11
|
UTSW |
5 |
25,469,983 (GRCm39) |
missense |
possibly damaging |
0.81 |
X0038:Galnt11
|
UTSW |
5 |
25,462,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |