Incidental Mutation 'R9588:Ndst4'
| ID |
722875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9588 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 125476808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 11
(H11P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
[ENSMUST00000174648]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173932
AA Change: H519P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: H519P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
20 |
505 |
1.2e-251 |
PFAM |
|
Pfam:Sulfotransfer_1
|
594 |
857 |
1.2e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174648
AA Change: H11P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: H11P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
86 |
349 |
6.6e-44 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a phenotype restricted to the colonic epithelium that includes an increased number of colon goblet cells, a decreased number of colonocytes, and increased apoptosis of colonic epithelial cells in the proximal colon. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
T |
C |
2: 158,468,328 (GRCm39) |
F153L |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,342 (GRCm39) |
K491E |
possibly damaging |
Het |
| Arhgap21 |
C |
A |
2: 20,858,938 (GRCm39) |
C1252F |
possibly damaging |
Het |
| Bcat1 |
T |
C |
6: 144,950,126 (GRCm39) |
N424S |
probably benign |
Het |
| Ccdc61 |
A |
G |
7: 18,644,266 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,733,770 (GRCm39) |
S586P |
possibly damaging |
Het |
| Chd3 |
A |
G |
11: 69,241,046 (GRCm39) |
C1516R |
probably damaging |
Het |
| Cops5 |
C |
A |
1: 10,108,222 (GRCm39) |
R5L |
unknown |
Het |
| Cpne2 |
C |
A |
8: 95,286,781 (GRCm39) |
P369Q |
possibly damaging |
Het |
| Cyp3a25 |
G |
T |
5: 145,921,699 (GRCm39) |
Q412K |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,622,785 (GRCm39) |
V612A |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,012,783 (GRCm39) |
D426G |
probably benign |
Het |
| Dolpp1 |
T |
A |
2: 30,282,515 (GRCm39) |
Y23N |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,511,617 (GRCm39) |
M517V |
probably benign |
Het |
| Fbxw27 |
ATGT |
AT |
9: 109,602,322 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
T |
13: 31,992,587 (GRCm39) |
H466L |
unknown |
Het |
| Hsf2bp |
A |
G |
17: 32,241,810 (GRCm39) |
L78P |
probably damaging |
Het |
| Ikbkb |
G |
A |
8: 23,151,410 (GRCm39) |
A738V |
unknown |
Het |
| Itgb8 |
G |
T |
12: 119,140,754 (GRCm39) |
N374K |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,553,804 (GRCm39) |
Q998L |
possibly damaging |
Het |
| Krtap11-1 |
A |
C |
16: 89,368,062 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,494,832 (GRCm39) |
|
probably null |
Het |
| Lrrc43 |
A |
T |
5: 123,641,307 (GRCm39) |
H497L |
probably damaging |
Het |
| Mmp1a |
C |
T |
9: 7,467,225 (GRCm39) |
T267I |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,978,130 (GRCm39) |
D1299E |
probably benign |
Het |
| Oas1c |
A |
G |
5: 120,946,202 (GRCm39) |
F99L |
probably benign |
Het |
| Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
| Or14c39 |
T |
A |
7: 86,343,948 (GRCm39) |
C95S |
probably damaging |
Het |
| Or1j11 |
G |
T |
2: 36,311,784 (GRCm39) |
A125S |
probably damaging |
Het |
| Or5w15 |
G |
A |
2: 87,568,644 (GRCm39) |
T8I |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,564 (GRCm39) |
D339G |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,259,039 (GRCm39) |
N271I |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,100,870 (GRCm39) |
D160E |
probably benign |
Het |
| Psma4 |
A |
T |
9: 54,862,245 (GRCm39) |
Q123L |
probably damaging |
Het |
| Selenbp2 |
A |
T |
3: 94,605,368 (GRCm39) |
I127F |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,121,025 (GRCm39) |
N1078S |
probably damaging |
Het |
| Sorl1 |
A |
C |
9: 41,993,105 (GRCm39) |
Y306* |
probably null |
Het |
| Spata17 |
T |
C |
1: 186,849,471 (GRCm39) |
K255E |
possibly damaging |
Het |
| Surf4 |
C |
A |
2: 26,823,622 (GRCm39) |
|
probably benign |
Het |
| Tbc1d16 |
G |
T |
11: 119,101,335 (GRCm39) |
H58Q |
probably damaging |
Het |
| Tfdp2 |
A |
G |
9: 96,169,663 (GRCm39) |
T5A |
probably damaging |
Het |
| Thsd7b |
T |
G |
1: 130,108,223 (GRCm39) |
C1313G |
probably damaging |
Het |
| Trmt44 |
A |
T |
5: 35,727,256 (GRCm39) |
C320S |
probably damaging |
Het |
| Unc119b |
G |
A |
5: 115,272,827 (GRCm39) |
T48M |
probably benign |
Het |
| Vit |
T |
A |
17: 78,930,079 (GRCm39) |
I348N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,347 (GRCm39) |
M31K |
probably null |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,205 (GRCm39) |
T699A |
possibly damaging |
Het |
| Xrn1 |
A |
G |
9: 95,920,756 (GRCm39) |
T1339A |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,905,604 (GRCm39) |
H860Q |
probably damaging |
Het |
|
| Other mutations in Ndst4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00920:Ndst4
|
APN |
3 |
125,231,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00926:Ndst4
|
APN |
3 |
125,355,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01292:Ndst4
|
APN |
3 |
125,232,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01797:Ndst4
|
APN |
3 |
125,476,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0004:Ndst4
|
UTSW |
3 |
125,364,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0118:Ndst4
|
UTSW |
3 |
125,405,210 (GRCm39) |
nonsense |
probably null |
|
|
R0652:Ndst4
|
UTSW |
3 |
125,405,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1437:Ndst4
|
UTSW |
3 |
125,355,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1502:Ndst4
|
UTSW |
3 |
125,231,407 (GRCm39) |
start gained |
probably benign |
|
|
R1900:Ndst4
|
UTSW |
3 |
125,491,544 (GRCm39) |
splice site |
probably null |
|
|
R1960:Ndst4
|
UTSW |
3 |
125,232,331 (GRCm39) |
nonsense |
probably null |
|
|
R2249:Ndst4
|
UTSW |
3 |
125,231,823 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2334:Ndst4
|
UTSW |
3 |
125,501,825 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2345:Ndst4
|
UTSW |
3 |
125,501,769 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3617:Ndst4
|
UTSW |
3 |
125,231,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3713:Ndst4
|
UTSW |
3 |
125,355,154 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3715:Ndst4
|
UTSW |
3 |
125,355,154 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3954:Ndst4
|
UTSW |
3 |
125,231,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4013:Ndst4
|
UTSW |
3 |
125,476,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4035:Ndst4
|
UTSW |
3 |
125,232,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4085:Ndst4
|
UTSW |
3 |
125,403,131 (GRCm39) |
missense |
probably benign |
|
|
R4496:Ndst4
|
UTSW |
3 |
125,476,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4498:Ndst4
|
UTSW |
3 |
125,232,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Ndst4
|
UTSW |
3 |
125,231,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5233:Ndst4
|
UTSW |
3 |
125,503,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Ndst4
|
UTSW |
3 |
125,232,105 (GRCm39) |
missense |
probably benign |
|
|
R5575:Ndst4
|
UTSW |
3 |
125,231,479 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5687:Ndst4
|
UTSW |
3 |
125,232,258 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5940:Ndst4
|
UTSW |
3 |
125,355,068 (GRCm39) |
splice site |
probably benign |
|
|
R6027:Ndst4
|
UTSW |
3 |
125,507,025 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6406:Ndst4
|
UTSW |
3 |
125,232,150 (GRCm39) |
missense |
probably benign |
|
|
R6540:Ndst4
|
UTSW |
3 |
125,515,801 (GRCm39) |
nonsense |
probably null |
|
|
R6941:Ndst4
|
UTSW |
3 |
125,403,160 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7108:Ndst4
|
UTSW |
3 |
125,355,120 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7269:Ndst4
|
UTSW |
3 |
125,232,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:Ndst4
|
UTSW |
3 |
125,231,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7345:Ndst4
|
UTSW |
3 |
125,508,308 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7405:Ndst4
|
UTSW |
3 |
125,476,865 (GRCm39) |
missense |
probably benign |
|
|
R7418:Ndst4
|
UTSW |
3 |
125,501,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7592:Ndst4
|
UTSW |
3 |
125,364,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7714:Ndst4
|
UTSW |
3 |
125,364,493 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7955:Ndst4
|
UTSW |
3 |
125,231,831 (GRCm39) |
nonsense |
probably null |
|
|
R8070:Ndst4
|
UTSW |
3 |
125,508,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Ndst4
|
UTSW |
3 |
125,364,439 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8553:Ndst4
|
UTSW |
3 |
125,503,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Ndst4
|
UTSW |
3 |
125,506,989 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8933:Ndst4
|
UTSW |
3 |
125,405,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8940:Ndst4
|
UTSW |
3 |
125,474,802 (GRCm39) |
start gained |
probably benign |
|
|
R8984:Ndst4
|
UTSW |
3 |
125,515,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Ndst4
|
UTSW |
3 |
125,231,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Ndst4
|
UTSW |
3 |
125,231,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9194:Ndst4
|
UTSW |
3 |
125,518,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9196:Ndst4
|
UTSW |
3 |
125,518,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9202:Ndst4
|
UTSW |
3 |
125,518,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9203:Ndst4
|
UTSW |
3 |
125,518,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9217:Ndst4
|
UTSW |
3 |
125,518,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9311:Ndst4
|
UTSW |
3 |
125,518,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9355:Ndst4
|
UTSW |
3 |
125,403,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Ndst4
|
UTSW |
3 |
125,518,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9415:Ndst4
|
UTSW |
3 |
125,518,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9475:Ndst4
|
UTSW |
3 |
125,508,296 (GRCm39) |
nonsense |
probably null |
|
|
R9544:Ndst4
|
UTSW |
3 |
125,476,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Ndst4
|
UTSW |
3 |
125,476,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9640:Ndst4
|
UTSW |
3 |
125,232,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9691:Ndst4
|
UTSW |
3 |
125,518,344 (GRCm39) |
missense |
unknown |
|
|
R9716:Ndst4
|
UTSW |
3 |
125,232,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Ndst4
|
UTSW |
3 |
125,231,595 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ndst4
|
UTSW |
3 |
125,364,389 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTAGCAAGGCACTAGTG -3'
(R):5'- AATATTACCTGCCAGAGAGGGTC -3'
Sequencing Primer
(F):5'- CTAGTGCCAAACTCTAATTCAGTC -3'
(R):5'- CCAGAGAGGGTCTTTCTGCTCAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation