Incidental Mutation 'R9311:Ndst4'
| ID |
705541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R9311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125518385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 354
(S354L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
[ENSMUST00000174648]
[ENSMUST00000198101]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173932
AA Change: S862L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: S862L
| 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 benign
Transcript: ENSMUST00000174648
AA Change: S354L
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: S354L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
86 |
349 |
6.6e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198101
|
| SMART Domains |
Protein: ENSMUSP00000142414
Gene: ENSMUSG00000027971
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
3 |
148 |
7e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.1106 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,495,816 (GRCm39) |
I84T |
possibly damaging |
Het |
| Adad2 |
G |
T |
8: 120,341,986 (GRCm39) |
R268L |
probably damaging |
Het |
| Agxt2 |
A |
T |
15: 10,380,733 (GRCm39) |
N208I |
probably damaging |
Het |
| Brsk1 |
G |
T |
7: 4,709,722 (GRCm39) |
|
probably null |
Het |
| Cd40 |
A |
T |
2: 164,912,667 (GRCm39) |
Q235L |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,859,490 (GRCm39) |
D1137V |
unknown |
Het |
| Cln6 |
T |
C |
9: 62,757,900 (GRCm39) |
Y220H |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,010,794 (GRCm39) |
|
probably null |
Het |
| Cpne1 |
A |
T |
2: 155,919,723 (GRCm39) |
V277E |
probably damaging |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,139 (GRCm39) |
T41A |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,369,463 (GRCm39) |
|
probably null |
Het |
| Eif4e1b |
C |
A |
13: 54,932,332 (GRCm39) |
H56N |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,823,788 (GRCm39) |
D78E |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Gabarap |
T |
A |
11: 69,882,549 (GRCm39) |
V4E |
probably benign |
Het |
| Gm5105 |
T |
A |
3: 137,755,418 (GRCm39) |
D56V |
unknown |
Het |
| Gosr2 |
G |
T |
11: 103,574,693 (GRCm39) |
H134Q |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,589,215 (GRCm39) |
V72A |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,416 (GRCm39) |
V422A |
probably benign |
Het |
| Kcne4 |
C |
A |
1: 78,795,824 (GRCm39) |
D157E |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,345 (GRCm39) |
N195S |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,123 (GRCm39) |
V75A |
probably benign |
Het |
| Klkb1 |
T |
C |
8: 45,722,983 (GRCm39) |
T625A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,275 (GRCm39) |
|
probably null |
Het |
| Lifr |
A |
G |
15: 7,208,418 (GRCm39) |
I599V |
possibly damaging |
Het |
| Lin52 |
A |
T |
12: 84,576,470 (GRCm39) |
E101V |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,802,680 (GRCm39) |
I130V |
probably benign |
Het |
| Liph |
C |
T |
16: 21,774,913 (GRCm39) |
R428Q |
probably damaging |
Het |
| Lrrc4c |
A |
C |
2: 97,461,080 (GRCm39) |
I569L |
possibly damaging |
Het |
| Mnat1 |
G |
A |
12: 73,214,916 (GRCm39) |
V78I |
probably benign |
Het |
| Msln |
C |
T |
17: 25,971,990 (GRCm39) |
D76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,463,253 (GRCm39) |
H495R |
probably damaging |
Het |
| Nfu1 |
T |
C |
6: 86,986,926 (GRCm39) |
V15A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,608,714 (GRCm39) |
S441P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,214,090 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
A |
T |
2: 36,760,405 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5h27 |
A |
T |
16: 59,006,106 (GRCm39) |
C247S |
unknown |
Het |
| Or5w22 |
A |
G |
2: 87,362,358 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,583,925 (GRCm39) |
S272P |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,978,189 (GRCm39) |
V1109A |
unknown |
Het |
| Pik3c3 |
G |
A |
18: 30,445,666 (GRCm39) |
R551H |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 135,189,385 (GRCm39) |
V838I |
probably benign |
Het |
| Plppr4 |
G |
T |
3: 117,119,518 (GRCm39) |
T297K |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,051,320 (GRCm39) |
I67T |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,539 (GRCm39) |
N312K |
probably damaging |
Het |
| Sh3glb1 |
A |
C |
3: 144,397,659 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
C |
T |
2: 130,916,013 (GRCm39) |
C1283Y |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,972,995 (GRCm39) |
I204V |
probably damaging |
Het |
| Sprr5 |
T |
G |
3: 92,440,397 (GRCm39) |
Q14P |
unknown |
Het |
| Supt6 |
T |
C |
11: 78,116,284 (GRCm39) |
Y693C |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,152 (GRCm39) |
V94A |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,846,877 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,863,029 (GRCm39) |
H678R |
possibly damaging |
Het |
| Tnr |
G |
C |
1: 159,677,663 (GRCm39) |
G16A |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,700,563 (GRCm39) |
|
probably null |
Het |
| Tpmt |
A |
G |
13: 47,185,892 (GRCm39) |
|
probably null |
Het |
| Treh |
G |
A |
9: 44,592,655 (GRCm39) |
V87I |
probably benign |
Het |
| Ttc4 |
T |
C |
4: 106,535,963 (GRCm39) |
D33G |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,703,257 (GRCm39) |
D1171G |
probably benign |
Het |
| Vmn2r61 |
G |
T |
7: 41,950,092 (GRCm39) |
L837F |
possibly damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,288,440 (GRCm39) |
N354Y |
probably damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Zscan4b |
C |
A |
7: 10,635,950 (GRCm39) |
V126F |
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 |
|
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'- AACTCTCCCAGGTACTCTACTGTAC -3'
(R):5'- ATTGCCAATGCGTGCATATATG -3'
Sequencing Primer
(F):5'- AAAAAGGTAAACTGTTTTGTCGATAC -3'
(R):5'- GCCAATGCGTGCATATATGTTTTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation