Incidental Mutation 'R2249:Ndst4'
| ID |
240772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
040249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125231823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 131
(I131F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
|
| 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: I131F
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: I131F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
20 |
505 |
1.2e-251 |
PFAM |
|
Pfam:Sulfotransfer_1
|
594 |
857 |
1.2e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
G |
A |
15: 101,100,975 (GRCm39) |
R379Q |
probably null |
Het |
| Adam23 |
C |
T |
1: 63,574,335 (GRCm39) |
Q276* |
probably null |
Het |
| Apob |
A |
T |
12: 8,057,499 (GRCm39) |
S1961C |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,408,839 (GRCm39) |
P334S |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,827 (GRCm39) |
M258V |
possibly damaging |
Het |
| Cd34 |
A |
C |
1: 194,630,260 (GRCm39) |
T65P |
possibly damaging |
Het |
| Cog6 |
A |
G |
3: 52,907,900 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
C |
3: 20,041,734 (GRCm39) |
M953T |
probably damaging |
Het |
| Cwc27 |
C |
T |
13: 104,768,130 (GRCm39) |
R455Q |
unknown |
Het |
| Dhx57 |
A |
T |
17: 80,588,663 (GRCm39) |
D63E |
probably damaging |
Het |
| Elapor1 |
A |
T |
3: 108,378,726 (GRCm39) |
Y409* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,536,786 (GRCm39) |
M1252K |
possibly damaging |
Het |
| Gfral |
C |
T |
9: 76,100,631 (GRCm39) |
C269Y |
probably damaging |
Het |
| Itih4 |
C |
T |
14: 30,621,351 (GRCm39) |
Q788* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,214 (GRCm39) |
S499P |
probably benign |
Het |
| Map1a |
G |
C |
2: 121,130,768 (GRCm39) |
R528P |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 20,003,443 (GRCm39) |
F1152L |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,599 (GRCm39) |
D160G |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,882,013 (GRCm39) |
C680S |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,847,469 (GRCm39) |
M616L |
probably benign |
Het |
| Neto1 |
G |
T |
18: 86,479,399 (GRCm39) |
A196S |
probably benign |
Het |
| Notum |
A |
G |
11: 120,545,237 (GRCm39) |
F441L |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,140,769 (GRCm39) |
I239T |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,647 (GRCm39) |
N241K |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,943 (GRCm39) |
D27E |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,707 (GRCm39) |
I214F |
probably damaging |
Het |
| Or6s1 |
T |
A |
14: 51,307,870 (GRCm39) |
K327* |
probably null |
Het |
| Or6x1 |
A |
T |
9: 40,098,980 (GRCm39) |
T190S |
possibly damaging |
Het |
| Or8k40 |
A |
G |
2: 86,584,398 (GRCm39) |
M228T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,700,841 (GRCm39) |
V221D |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,808,545 (GRCm39) |
Y474C |
probably damaging |
Het |
| Ptk6 |
A |
C |
2: 180,838,173 (GRCm39) |
H363Q |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,342,948 (GRCm39) |
W187R |
probably damaging |
Het |
| Rbfox3 |
A |
T |
11: 118,394,564 (GRCm39) |
F132L |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,099,268 (GRCm39) |
I188F |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,462,299 (GRCm39) |
S385T |
possibly damaging |
Het |
| Sema6d |
A |
G |
2: 124,501,508 (GRCm39) |
E483G |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,943,015 (GRCm39) |
I322V |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,388,890 (GRCm39) |
V372A |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,317,654 (GRCm39) |
G429D |
probably damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,774,532 (GRCm39) |
V151A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,936,787 (GRCm39) |
D106G |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,974,778 (GRCm39) |
T366S |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,710,398 (GRCm39) |
M281T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,485 (GRCm39) |
V917A |
probably damaging |
Het |
| Tubgcp4 |
A |
T |
2: 121,014,110 (GRCm39) |
D221V |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,176,232 (GRCm39) |
R3153W |
probably damaging |
Het |
| Vmn1r89 |
A |
C |
7: 12,954,187 (GRCm39) |
T308P |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,326 (GRCm39) |
I27T |
probably benign |
Het |
| Vps13c |
T |
G |
9: 67,895,335 (GRCm39) |
|
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,606,191 (GRCm39) |
V1793A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,109 (GRCm39) |
C395S |
possibly 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 |
|
|
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 |
|
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'- GAGCTGAGAACCATCAAGCC -3'
(R):5'- GGTTCACAGAGCAGTCCTTC -3'
Sequencing Primer
(F):5'- GAGCTGAGAACCATCAAGCCTATTG -3'
(R):5'- AGCAGTCCTTCAGAGCTACGTTATTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation