Incidental Mutation 'R5575:Ndst4'
| ID |
437155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
043130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5575 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125231479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 16
(V16D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144344
|
| SMART Domains |
Protein: ENSMUSP00000120687
Gene: ENSMUSG00000027971
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
19 |
505 |
1.3e-270 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147016
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173932
AA Change: V16D
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: V16D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
20 |
505 |
1.2e-251 |
PFAM |
|
Pfam:Sulfotransfer_1
|
594 |
857 |
1.2e-43 |
PFAM |
|
| Meta Mutation Damage Score |
0.1094 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (57/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,916,195 (GRCm39) |
|
probably null |
Het |
| Adrm1 |
T |
G |
2: 179,817,509 (GRCm39) |
D325E |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,013,213 (GRCm39) |
V433E |
probably damaging |
Het |
| Aplf |
A |
C |
6: 87,623,129 (GRCm39) |
C338G |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,991,149 (GRCm39) |
T681A |
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,405,015 (GRCm39) |
K81R |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,702,066 (GRCm39) |
H286Q |
probably damaging |
Het |
| Cfap61 |
G |
A |
2: 145,859,313 (GRCm39) |
V434I |
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,417,642 (GRCm39) |
I1311N |
probably damaging |
Het |
| Col9a3 |
A |
T |
2: 180,240,639 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,168,447 (GRCm39) |
C671S |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,508,740 (GRCm39) |
V245A |
probably damaging |
Het |
| Epha5 |
G |
A |
5: 84,564,361 (GRCm39) |
R2W |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,420,365 (GRCm39) |
|
probably benign |
Het |
| Gm3453 |
A |
G |
14: 5,978,205 (GRCm38) |
V66A |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,359,707 (GRCm39) |
I28V |
probably damaging |
Het |
| Hk3 |
A |
T |
13: 55,162,583 (GRCm39) |
D88E |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,060,613 (GRCm39) |
T375A |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,457,925 (GRCm39) |
E154V |
possibly damaging |
Het |
| Il7r |
A |
G |
15: 9,508,273 (GRCm39) |
S350P |
probably benign |
Het |
| Isx |
T |
C |
8: 75,619,429 (GRCm39) |
L207P |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,985,450 (GRCm39) |
E197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,855,787 (GRCm39) |
Q675* |
probably null |
Het |
| Marchf1 |
T |
A |
8: 66,920,962 (GRCm39) |
V217E |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,578,485 (GRCm39) |
I157T |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,574,832 (GRCm39) |
L147Q |
probably damaging |
Het |
| Niban1 |
A |
T |
1: 151,593,991 (GRCm39) |
H892L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,047,804 (GRCm39) |
L18P |
possibly damaging |
Het |
| Pikfyve |
A |
C |
1: 65,312,889 (GRCm39) |
H2089P |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,301,523 (GRCm39) |
L1501Q |
possibly damaging |
Het |
| Ppp2r5c |
T |
C |
12: 110,519,266 (GRCm39) |
F246S |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,432 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
G |
A |
3: 119,514,438 (GRCm39) |
P463L |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 118,964,914 (GRCm39) |
D274G |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,328,405 (GRCm39) |
V2807A |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
C |
T |
14: 64,268,433 (GRCm39) |
H1340Y |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,778,118 (GRCm39) |
H2133L |
possibly damaging |
Het |
| Scgb1c1 |
G |
A |
7: 140,426,024 (GRCm39) |
G40E |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,871 (GRCm39) |
I703T |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,961,138 (GRCm39) |
A975T |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,787 (GRCm39) |
D400G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,378 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
C |
17: 84,723,827 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
G |
17: 66,862,321 (GRCm39) |
S546P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,631 (GRCm39) |
D286G |
probably benign |
Het |
| Tmem67 |
A |
T |
4: 12,047,886 (GRCm39) |
V815D |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,870,018 (GRCm39) |
L441P |
possibly damaging |
Het |
| Vapa |
A |
G |
17: 65,920,247 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,635 (GRCm39) |
Y582* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,930,065 (GRCm39) |
K3934I |
probably damaging |
Het |
| Wrn |
G |
A |
8: 33,826,158 (GRCm39) |
T168I |
probably benign |
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 |
|
|
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 |
|
R9588: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'- TCTCCCATGATTTGCAATGGTTAC -3'
(R):5'- GACCAAGTTGCGAATACTGGC -3'
Sequencing Primer
(F):5'- CAATGGTTACATGAATGTTTGGGAAG -3'
(R):5'- GTTGCGAATACTGGCTCTCTACAAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation