Incidental Mutation 'R4237:Galnt11'
| ID |
321158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt11
|
| Ensembl Gene |
ENSMUSG00000038072 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 11 |
| Synonyms |
A430075I06Rik, E430002F06Rik |
| MMRRC Submission |
041054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R4237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
25427732-25470916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25470258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 569
(R569Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045737]
[ENSMUST00000114950]
[ENSMUST00000114952]
|
| AlphaFold |
Q921L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045737
AA Change: R569Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000036240
Gene: ENSMUSG00000038072
AA Change: R569Q
| 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 benign
Transcript: ENSMUST00000114950
AA Change: R569Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000110600
Gene: ENSMUSG00000038072
AA Change: R569Q
| 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: ENSMUST00000114952
AA Change: R569Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000110602
Gene: ENSMUSG00000038072
AA Change: R569Q
| 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 |
|
| Meta Mutation Damage Score |
0.1502 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| 6820408C15Rik |
C |
T |
2: 152,270,873 (GRCm39) |
T32I |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,384,188 (GRCm39) |
K3880R |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,979,147 (GRCm39) |
L144F |
probably benign |
Het |
| Antxr2 |
A |
T |
5: 98,086,266 (GRCm39) |
I447N |
probably damaging |
Het |
| Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,507,324 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,695,487 (GRCm39) |
V148A |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Gpr6 |
T |
C |
10: 40,946,604 (GRCm39) |
N326S |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| L3mbtl3 |
G |
A |
10: 26,216,846 (GRCm39) |
A181V |
unknown |
Het |
| Lrrc37a |
G |
A |
11: 103,393,115 (GRCm39) |
T770I |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,597 (GRCm39) |
S270P |
probably damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,536 (GRCm39) |
N177S |
probably damaging |
Het |
| Or7g32 |
C |
T |
9: 19,388,893 (GRCm39) |
V215I |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,805,170 (GRCm39) |
T181A |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,752 (GRCm39) |
N128S |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,876,546 (GRCm39) |
P155L |
probably damaging |
Het |
| Rad54l |
A |
G |
4: 115,956,646 (GRCm39) |
V500A |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Tdrd9 |
C |
T |
12: 112,034,059 (GRCm39) |
R1334* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,761,838 (GRCm39) |
H268Q |
possibly damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,879,740 (GRCm39) |
I187L |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,486,802 (GRCm39) |
R160* |
probably null |
Het |
| Wnt5a |
T |
C |
14: 28,244,823 (GRCm39) |
C357R |
probably damaging |
Het |
| Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
probably damaging |
Het |
| Zfp184 |
G |
A |
13: 22,142,948 (GRCm39) |
R218H |
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 |
|
IGL01748:Galnt11
|
APN |
5 |
25,452,513 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAAGTGCCATGGGTCAGG -3'
(R):5'- CCTTAAAGCACCTTGATTTATGGC -3'
Sequencing Primer
(F):5'- TCAGGAGGATCCCAGCAGTG -3'
(R):5'- CACCTTGATTTATGGCAGGCATGAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation