Incidental Mutation 'R9640:Ndst4'
| ID |
725904 |
| 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 # |
R9640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125232196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 255
(T255K)
|
| 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 |
probably damaging
Transcript: ENSMUST00000173932
AA Change: T255K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: T255K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
C |
16: 14,436,589 (GRCm39) |
V214A |
|
Het |
| A830018L16Rik |
A |
G |
1: 12,021,200 (GRCm39) |
K403R |
probably damaging |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,412,809 (GRCm39) |
R44W |
possibly damaging |
Het |
| Abhd17c |
A |
T |
7: 83,800,814 (GRCm39) |
L80Q |
probably damaging |
Het |
| Adam30 |
T |
A |
3: 98,069,620 (GRCm39) |
D484E |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,010 (GRCm39) |
V2299E |
possibly damaging |
Het |
| Atp6v1c1 |
C |
T |
15: 38,689,381 (GRCm39) |
R281W |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,201,553 (GRCm39) |
|
probably null |
Het |
| Ccdc50 |
T |
C |
16: 27,225,461 (GRCm39) |
V58A |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,126,352 (GRCm39) |
S187P |
probably benign |
Het |
| Clip4 |
C |
T |
17: 72,163,264 (GRCm39) |
T612M |
possibly damaging |
Het |
| Corin |
C |
T |
5: 72,592,597 (GRCm39) |
V267I |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 40,000,180 (GRCm39) |
I434K |
probably benign |
Het |
| Ddx43 |
T |
G |
9: 78,303,389 (GRCm39) |
D76E |
probably benign |
Het |
| Dusp5 |
A |
G |
19: 53,526,051 (GRCm39) |
E231G |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,166,394 (GRCm39) |
V242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,831,896 (GRCm39) |
R1973S |
probably benign |
Het |
| Gas2l3 |
A |
T |
10: 89,266,774 (GRCm39) |
D55E |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,477,303 (GRCm39) |
I195V |
probably benign |
Het |
| H2-M1 |
G |
T |
17: 36,983,031 (GRCm39) |
T20K |
probably benign |
Het |
| H2-Q2 |
T |
G |
17: 35,562,206 (GRCm39) |
L151R |
probably damaging |
Het |
| Hbegf |
T |
C |
18: 36,640,643 (GRCm39) |
Y138C |
probably damaging |
Het |
| Hectd1 |
C |
A |
12: 51,795,197 (GRCm39) |
E2411* |
probably null |
Het |
| Igkv11-125 |
T |
A |
6: 67,890,783 (GRCm39) |
S34T |
possibly damaging |
Het |
| Jam2 |
A |
T |
16: 84,609,960 (GRCm39) |
T191S |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,185,089 (GRCm39) |
I457T |
probably damaging |
Het |
| Khk |
A |
G |
5: 31,079,303 (GRCm39) |
D15G |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,526,875 (GRCm39) |
Y2244* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,078,929 (GRCm39) |
N1841S |
|
Het |
| Lrp4 |
A |
G |
2: 91,316,296 (GRCm39) |
T805A |
probably benign |
Het |
| Lrp6 |
C |
T |
6: 134,441,414 (GRCm39) |
R1184Q |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,900,699 (GRCm39) |
L442* |
probably null |
Het |
| Mapk8ip3 |
T |
C |
17: 25,155,647 (GRCm39) |
N61S |
possibly damaging |
Het |
| Matcap2 |
A |
T |
9: 22,351,228 (GRCm39) |
I457L |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,754,539 (GRCm39) |
V4685E |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,745,325 (GRCm39) |
E134G |
possibly damaging |
Het |
| Mtss2 |
T |
C |
8: 111,464,575 (GRCm39) |
V403A |
probably benign |
Het |
| Or1i2 |
G |
C |
10: 78,448,311 (GRCm39) |
L55V |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,761 (GRCm39) |
M58L |
probably damaging |
Het |
| Or5ae2 |
G |
A |
7: 84,506,114 (GRCm39) |
C181Y |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,396 (GRCm39) |
L51P |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,515,355 (GRCm39) |
D126E |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,397,142 (GRCm39) |
T675A |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,121,116 (GRCm39) |
D185G |
probably damaging |
Het |
| Rnase2a |
G |
A |
14: 51,493,117 (GRCm39) |
R83C |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,583,994 (GRCm39) |
T784A |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,189 (GRCm39) |
T272S |
|
Het |
| Sorcs2 |
G |
T |
5: 36,222,765 (GRCm39) |
S330* |
probably null |
Het |
| Spdef |
G |
T |
17: 27,936,183 (GRCm39) |
H253Q |
|
Het |
| Tas2r144 |
A |
G |
6: 42,192,428 (GRCm39) |
E56G |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,074,825 (GRCm39) |
C479R |
probably damaging |
Het |
| Ttc36 |
A |
T |
9: 44,714,034 (GRCm39) |
L28Q |
probably benign |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,098 (GRCm39) |
S109P |
possibly damaging |
Het |
| Vamp5 |
G |
A |
6: 72,347,276 (GRCm39) |
|
probably benign |
Het |
| Wwox |
A |
G |
8: 115,166,540 (GRCm39) |
D10G |
possibly damaging |
Het |
| Zfp40 |
T |
C |
17: 23,394,493 (GRCm39) |
Y698C |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,106,458 (GRCm39) |
D183G |
probably benign |
Het |
| Zfp932 |
T |
C |
5: 110,157,064 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,209,899 (GRCm39) |
L57H |
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 |
|
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 |
|
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'- CTACACAACTGAAAGGGTTTCC -3'
(R):5'- TCCCCACAAATATGTCATCAATGTC -3'
Sequencing Primer
(F):5'- TAACGTAGCTCTGAAGGACTGCTC -3'
(R):5'- CAAATATGTCATCAATGTCCACAAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation