Incidental Mutation 'R9475:Ndst4'
| ID |
715688 |
| 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 # |
R9475 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 125508296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 287
(S287*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
[ENSMUST00000174648]
[ENSMUST00000198101]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000173932
AA Change: S795*
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: S795*
| 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 null
Transcript: ENSMUST00000174648
AA Change: S287*
|
| SMART Domains |
Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: S287*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
86 |
349 |
6.6e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198101
AA Change: S136*
|
| SMART Domains |
Protein: ENSMUSP00000142414
Gene: ENSMUSG00000027971
AA Change: S136*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
3 |
148 |
7e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
T |
7: 45,665,892 (GRCm39) |
W243R |
probably damaging |
Het |
| Ablim1 |
T |
G |
19: 57,227,612 (GRCm39) |
K18Q |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,504,570 (GRCm39) |
N174Y |
possibly damaging |
Het |
| Afg2a |
T |
C |
3: 37,486,058 (GRCm39) |
V260A |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,614,437 (GRCm39) |
H23R |
probably benign |
Het |
| Akap6 |
T |
G |
12: 53,057,335 (GRCm39) |
Y934D |
probably damaging |
Het |
| Alas1 |
C |
T |
9: 106,111,261 (GRCm39) |
S635N |
probably benign |
Het |
| Ankrd24 |
A |
G |
10: 81,478,133 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
A |
G |
6: 38,037,917 (GRCm39) |
L560P |
probably damaging |
Het |
| Cacng1 |
C |
T |
11: 107,607,118 (GRCm39) |
V34M |
possibly damaging |
Het |
| Clcn3 |
C |
T |
8: 61,387,551 (GRCm39) |
A233T |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,946,949 (GRCm39) |
F160S |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,881,276 (GRCm39) |
S719G |
probably damaging |
Het |
| Exosc2 |
G |
A |
2: 31,564,755 (GRCm39) |
V107I |
probably benign |
Het |
| Fam83b |
C |
A |
9: 76,399,085 (GRCm39) |
V673F |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,927,929 (GRCm39) |
F3781L |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,660 (GRCm39) |
L289H |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,370 (GRCm39) |
I329V |
probably benign |
Het |
| Gli3 |
G |
A |
13: 15,900,296 (GRCm39) |
G1228S |
possibly damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,431,558 (GRCm39) |
F72S |
possibly damaging |
Het |
| Hao1 |
T |
A |
2: 134,390,181 (GRCm39) |
M53L |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Iqcm |
A |
G |
8: 76,480,083 (GRCm39) |
E347G |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnrg |
A |
G |
14: 61,845,106 (GRCm39) |
I49V |
possibly damaging |
Het |
| Lrrc8e |
G |
A |
8: 4,285,346 (GRCm39) |
G524S |
probably benign |
Het |
| Lrrn1 |
A |
T |
6: 107,545,261 (GRCm39) |
Y353F |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,739,849 (GRCm39) |
D3701G |
possibly damaging |
Het |
| Mtmr2 |
A |
G |
9: 13,716,767 (GRCm39) |
T623A |
probably benign |
Het |
| Ntrk3 |
A |
C |
7: 77,952,480 (GRCm39) |
M579R |
probably benign |
Het |
| Oas1a |
G |
A |
5: 121,037,317 (GRCm39) |
L237F |
probably damaging |
Het |
| Or2aj4 |
T |
C |
16: 19,385,270 (GRCm39) |
D121G |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,939 (GRCm39) |
M272T |
probably benign |
Het |
| Paqr5 |
T |
A |
9: 61,863,507 (GRCm39) |
I272F |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,140,591 (GRCm39) |
V740E |
probably damaging |
Het |
| Pdgfra |
A |
C |
5: 75,328,588 (GRCm39) |
N240T |
possibly damaging |
Het |
| Plbd2 |
G |
A |
5: 120,632,445 (GRCm39) |
Q186* |
probably null |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Ppargc1a |
C |
A |
5: 51,653,080 (GRCm39) |
G161C |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,210,476 (GRCm39) |
I166T |
possibly damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Rpap2 |
T |
A |
5: 107,768,455 (GRCm39) |
L431Q |
probably damaging |
Het |
| Rslcan18 |
T |
A |
13: 67,250,128 (GRCm39) |
K160* |
probably null |
Het |
| Sema7a |
T |
C |
9: 57,862,188 (GRCm39) |
F180L |
probably benign |
Het |
| Sh2d3c |
C |
T |
2: 32,643,039 (GRCm39) |
L741F |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skic2 |
A |
T |
17: 35,060,078 (GRCm39) |
D897E |
probably benign |
Het |
| Skint6 |
C |
T |
4: 112,664,037 (GRCm39) |
|
probably null |
Het |
| Slc35f3 |
T |
C |
8: 127,108,993 (GRCm39) |
S181P |
probably damaging |
Het |
| Slc4a9 |
A |
T |
18: 36,662,269 (GRCm39) |
E127V |
probably null |
Het |
| Speg |
C |
T |
1: 75,364,735 (GRCm39) |
T372I |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,735 (GRCm39) |
T204A |
probably benign |
Het |
| Tas2r138 |
T |
A |
6: 40,589,392 (GRCm39) |
M285L |
probably benign |
Het |
| Tbc1d10a |
G |
C |
11: 4,163,604 (GRCm39) |
K285N |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,393,228 (GRCm39) |
M239L |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,039,761 (GRCm39) |
S1293P |
probably benign |
Het |
| Uaca |
C |
T |
9: 60,779,498 (GRCm39) |
T1295M |
possibly damaging |
Het |
| Ubald1 |
G |
T |
16: 4,693,433 (GRCm39) |
Q161K |
possibly damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
| Vps45 |
T |
G |
3: 95,950,237 (GRCm39) |
T231P |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,088,512 (GRCm39) |
D1186E |
probably benign |
Het |
| Zfp534 |
G |
A |
4: 147,766,731 (GRCm39) |
T8I |
probably benign |
Het |
| Zfp68 |
T |
C |
5: 138,605,517 (GRCm39) |
N269D |
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 |
|
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 |
|
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'- TGTTTTCTTCTCAAAGTGACCGG -3'
(R):5'- CCTGTTATTCAGAAGGAGACACC -3'
Sequencing Primer
(F):5'- CCGGACTTATTAATGCCATACAGGTC -3'
(R):5'- GGTCTGAGTAGCAGAATGA -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation