Incidental Mutation 'R6406:Ndst4'
| ID |
516291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
044551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125232150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 240
(S240P)
|
| 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: S240P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: S240P
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (48/50) |
| 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 |
|---|
| Aars2 |
C |
T |
17: 45,817,865 (GRCm39) |
P29L |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,261,484 (GRCm39) |
N567S |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,852,948 (GRCm39) |
N505K |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,825,874 (GRCm39) |
D356V |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bpifb6 |
C |
A |
2: 153,746,457 (GRCm39) |
T117K |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,097,835 (GRCm39) |
E418G |
possibly damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,364 (GRCm39) |
K84* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,852,079 (GRCm39) |
L90P |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,387,827 (GRCm39) |
D91G |
probably damaging |
Het |
| Dock1 |
C |
A |
7: 134,747,215 (GRCm39) |
Q1509K |
probably benign |
Het |
| Fzd1 |
T |
G |
5: 4,806,089 (GRCm39) |
T498P |
probably damaging |
Het |
| Galnt12 |
A |
G |
4: 47,122,534 (GRCm39) |
N271S |
probably benign |
Het |
| Gm12888 |
A |
G |
4: 121,176,654 (GRCm39) |
I49T |
possibly damaging |
Het |
| Gria4 |
A |
T |
9: 4,427,077 (GRCm39) |
W788R |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,307,540 (GRCm39) |
A379V |
probably damaging |
Het |
| Islr2 |
A |
G |
9: 58,107,263 (GRCm39) |
V43A |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,929,563 (GRCm39) |
N782I |
probably damaging |
Het |
| Klhl8 |
T |
A |
5: 104,010,981 (GRCm39) |
I539F |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,839,257 (GRCm39) |
C750* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,388,361 (GRCm39) |
T2355S |
unknown |
Het |
| Lrrc8a |
A |
G |
2: 30,147,103 (GRCm39) |
H639R |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,131,224 (GRCm39) |
D442V |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,846,343 (GRCm39) |
|
probably null |
Het |
| Msantd1 |
C |
A |
5: 35,080,665 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
C |
A |
6: 125,150,841 (GRCm39) |
A785S |
probably benign |
Het |
| Ncbp2 |
CTCGTCTGG |
C |
16: 31,775,159 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nek9 |
T |
C |
12: 85,385,946 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-1 |
C |
T |
5: 101,811,677 (GRCm39) |
A142T |
unknown |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,404 (GRCm39) |
H205R |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,184 (GRCm39) |
I205T |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,590,651 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,573,098 (GRCm39) |
M322T |
probably benign |
Het |
| Parp2 |
A |
G |
14: 51,056,934 (GRCm39) |
N353D |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,503,412 (GRCm39) |
N452S |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,762,586 (GRCm39) |
V1397A |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,535,665 (GRCm39) |
L1675Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,703 (GRCm39) |
I1157V |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,878,312 (GRCm39) |
C217F |
probably damaging |
Het |
| Spats1 |
T |
A |
17: 45,768,191 (GRCm39) |
H125L |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,269,595 (GRCm39) |
V330A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,069,846 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,977,963 (GRCm39) |
F301L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,032,924 (GRCm39) |
E221K |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,466,377 (GRCm39) |
T295A |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,101,093 (GRCm39) |
Q35R |
probably damaging |
Het |
| Tsnaxip1 |
C |
T |
8: 106,570,615 (GRCm39) |
T578I |
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 |
|
|
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 |
|
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'- ATGGAACCGGGAGCTTTTAG -3'
(R):5'- AGGACAGTGTCAACCTCTTCC -3'
Sequencing Primer
(F):5'- CCGGGAGCTTTTAGAAAAATACTG -3'
(R):5'- TCTTCCCCGACAAGAAGGAGATG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation