Incidental Mutation 'R0682:Galnt18'
| ID |
61014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt18
|
| Ensembl Gene |
ENSMUSG00000038296 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 18 |
| Synonyms |
Galntl4, 2900011G21Rik |
| MMRRC Submission |
038867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0682 (G1)
|
| Quality Score |
96 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
111070868-111379184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111119222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 418
(Y418C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049430]
[ENSMUST00000106663]
|
| AlphaFold |
Q8K1B9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049430
AA Change: Y433C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043636
Gene: ENSMUSG00000038296
AA Change: Y433C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
141 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
157 |
345 |
1.1e-25 |
PFAM |
|
RICIN
|
485 |
614 |
8.3e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106663
AA Change: Y418C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102274
Gene: ENSMUSG00000038296
AA Change: Y418C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
141 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
157 |
344 |
1.4e-23 |
PFAM |
|
RICIN
|
470 |
599 |
8.3e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
| Abcd3 |
A |
C |
3: 121,563,216 (GRCm39) |
I471S |
possibly damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
| Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
| Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
| Ifit2 |
G |
A |
19: 34,551,012 (GRCm39) |
R184H |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,428,620 (GRCm39) |
N113K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
| Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
| Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
| Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
| Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
| Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,131,915 (GRCm39) |
M148T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,645,665 (GRCm39) |
S470P |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
| Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
| Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
| Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,710,930 (GRCm39) |
Y60C |
probably damaging |
Het |
|
| Other mutations in Galnt18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Galnt18
|
APN |
7 |
111,071,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03110:Galnt18
|
APN |
7 |
111,147,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03263:Galnt18
|
APN |
7 |
111,119,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Galnt18
|
UTSW |
7 |
111,153,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Galnt18
|
UTSW |
7 |
111,153,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Galnt18
|
UTSW |
7 |
111,198,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Galnt18
|
UTSW |
7 |
111,378,506 (GRCm39) |
splice site |
probably benign |
|
|
R0494:Galnt18
|
UTSW |
7 |
111,153,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Galnt18
|
UTSW |
7 |
111,107,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0938:Galnt18
|
UTSW |
7 |
111,119,206 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1321:Galnt18
|
UTSW |
7 |
111,378,639 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1457:Galnt18
|
UTSW |
7 |
111,378,635 (GRCm39) |
nonsense |
probably null |
|
|
R1656:Galnt18
|
UTSW |
7 |
111,215,699 (GRCm39) |
splice site |
probably benign |
|
|
R2077:Galnt18
|
UTSW |
7 |
111,153,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Galnt18
|
UTSW |
7 |
111,153,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3788:Galnt18
|
UTSW |
7 |
111,119,322 (GRCm39) |
nonsense |
probably null |
|
|
R4835:Galnt18
|
UTSW |
7 |
111,378,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4962:Galnt18
|
UTSW |
7 |
111,071,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6125:Galnt18
|
UTSW |
7 |
111,084,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6216:Galnt18
|
UTSW |
7 |
111,112,757 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7075:Galnt18
|
UTSW |
7 |
111,155,595 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7831:Galnt18
|
UTSW |
7 |
111,155,665 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8728:Galnt18
|
UTSW |
7 |
111,119,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Galnt18
|
UTSW |
7 |
111,119,198 (GRCm39) |
missense |
probably null |
0.90 |
|
R8888:Galnt18
|
UTSW |
7 |
111,378,709 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8895:Galnt18
|
UTSW |
7 |
111,378,709 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9330:Galnt18
|
UTSW |
7 |
111,071,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9448:Galnt18
|
UTSW |
7 |
111,153,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Galnt18
|
UTSW |
7 |
111,071,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF017:Galnt18
|
UTSW |
7 |
111,198,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Galnt18
|
UTSW |
7 |
111,084,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTCCTCCGAGCATGGATGTAG -3'
(R):5'- TGCCTCAGAGAGGAGCTGATGAAC -3'
Sequencing Primer
(F):5'- GAATCTCAGAGACTTCTGCCAG -3'
(R):5'- GAGGAGCTGATGAACACATCCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation