Incidental Mutation 'R0021:Galnt11'
| ID |
64757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt11
|
| Ensembl Gene |
ENSMUSG00000038072 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 11 |
| Synonyms |
A430075I06Rik, E430002F06Rik |
| MMRRC Submission |
038316-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R0021 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
25427732-25470916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25453855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 27
(D27V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045737]
[ENSMUST00000114950]
[ENSMUST00000114952]
[ENSMUST00000144971]
|
| AlphaFold |
Q921L8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045737
AA Change: D106V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036240
Gene: ENSMUSG00000038072
AA Change: D106V
| 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 damaging
Transcript: ENSMUST00000114950
AA Change: D106V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110600
Gene: ENSMUSG00000038072
AA Change: D106V
| 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 damaging
Transcript: ENSMUST00000114952
AA Change: D106V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110602
Gene: ENSMUSG00000038072
AA Change: D106V
| 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 damaging
Transcript: ENSMUST00000144971
AA Change: D27V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5509 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,025,423 (GRCm39) |
I43T |
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| C5ar2 |
A |
G |
7: 15,971,601 (GRCm39) |
F109L |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
| Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,140,411 (GRCm39) |
I1317T |
probably benign |
Het |
| Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
| Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,317,479 (GRCm39) |
L36Q |
probably damaging |
Het |
| Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,866,298 (GRCm39) |
Y1148H |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
| Mef2c |
C |
A |
13: 83,804,359 (GRCm39) |
L282M |
probably damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
| Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,703,587 (GRCm39) |
T654M |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,316 (GRCm39) |
S376T |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
| Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
| Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
| Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
| Trim45 |
A |
T |
3: 100,832,736 (GRCm39) |
D323V |
probably damaging |
Het |
| Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
| Uqcc4 |
A |
G |
17: 25,403,957 (GRCm39) |
E99G |
possibly damaging |
Het |
| V1rd19 |
A |
T |
7: 23,703,029 (GRCm39) |
D165V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTGAACCTACAGTCAAGTTGAAAA -3'
(R):5'- AGTGGCTTTGACCAACAACAGTTATCA -3'
Sequencing Primer
(F):5'- ACTGTGGTTGTGTAGTGTGATG -3'
(R):5'- gcacacgggagaagatgg -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation