Incidental Mutation 'R1502:Ndst4'
| ID |
169337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
039552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1502 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 125231407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
G |
11: 109,865,471 (GRCm39) |
T329P |
probably damaging |
Het |
| Adamts4 |
C |
A |
1: 171,086,559 (GRCm39) |
P784T |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,630,145 (GRCm39) |
L1096P |
probably damaging |
Het |
| Ap1b1 |
A |
G |
11: 4,990,290 (GRCm39) |
S849G |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,761,747 (GRCm39) |
S1660G |
probably benign |
Het |
| Atp10b |
A |
C |
11: 43,121,174 (GRCm39) |
T946P |
probably damaging |
Het |
| Brpf1 |
A |
G |
6: 113,299,381 (GRCm39) |
D1103G |
probably damaging |
Het |
| Bub1 |
A |
G |
2: 127,669,339 (GRCm39) |
Y102H |
probably damaging |
Het |
| Ccdc182 |
A |
G |
11: 88,185,193 (GRCm39) |
E91G |
probably benign |
Het |
| Cd200r4 |
C |
T |
16: 44,653,803 (GRCm39) |
T154M |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,881,755 (GRCm39) |
T407A |
probably benign |
Het |
| Col6a2 |
T |
C |
10: 76,450,512 (GRCm39) |
I140V |
probably benign |
Het |
| Csn3 |
C |
A |
5: 88,077,983 (GRCm39) |
T163K |
probably damaging |
Het |
| Dars2 |
A |
T |
1: 160,874,375 (GRCm39) |
L438* |
probably null |
Het |
| Dbr1 |
T |
C |
9: 99,464,440 (GRCm39) |
L289P |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,811,122 (GRCm39) |
R573G |
possibly damaging |
Het |
| Defb10 |
T |
C |
8: 22,348,972 (GRCm39) |
I10T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,233,069 (GRCm39) |
E136G |
possibly damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,668 (GRCm39) |
Q136R |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,214 (GRCm39) |
S625R |
probably damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,209 (GRCm39) |
D94G |
probably damaging |
Het |
| Dynlt2a2 |
A |
G |
17: 15,187,876 (GRCm39) |
F133L |
probably benign |
Het |
| E130311K13Rik |
A |
C |
3: 63,822,968 (GRCm39) |
Y225* |
probably null |
Het |
| Etnppl |
A |
G |
3: 130,422,438 (GRCm39) |
I222V |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,550,440 (GRCm39) |
L818P |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,205,626 (GRCm39) |
C1083* |
probably null |
Het |
| Flnc |
G |
A |
6: 29,438,693 (GRCm39) |
V196I |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,435,622 (GRCm39) |
D415G |
probably benign |
Het |
| Gm4861 |
A |
C |
3: 137,256,381 (GRCm39) |
V75G |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,155,399 (GRCm39) |
T345S |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,432,169 (GRCm39) |
S943G |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,502,743 (GRCm39) |
R460Q |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,556,872 (GRCm39) |
L629R |
possibly damaging |
Het |
| Ift52 |
G |
A |
2: 162,871,782 (GRCm39) |
|
probably null |
Het |
| Insl3 |
A |
G |
8: 72,142,876 (GRCm39) |
D79G |
probably damaging |
Het |
| Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
| Lag3 |
T |
C |
6: 124,886,206 (GRCm39) |
Y249C |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,097,572 (GRCm39) |
N124D |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,791,906 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,294,235 (GRCm39) |
Y299H |
probably benign |
Het |
| Lypd4 |
T |
C |
7: 24,566,253 (GRCm39) |
T24A |
probably benign |
Het |
| Magi1 |
T |
A |
6: 93,671,151 (GRCm39) |
I805F |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,418,975 (GRCm39) |
L45P |
probably benign |
Het |
| Nbea |
G |
A |
3: 55,912,310 (GRCm39) |
P1159L |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,374,335 (GRCm39) |
N229K |
possibly damaging |
Het |
| Nova1 |
A |
G |
12: 46,767,615 (GRCm39) |
I102T |
unknown |
Het |
| Npepps |
T |
C |
11: 97,109,401 (GRCm39) |
E725G |
possibly damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,234 (GRCm39) |
M122L |
possibly damaging |
Het |
| Or13a1 |
T |
C |
6: 116,471,242 (GRCm39) |
I224T |
probably damaging |
Het |
| Or5l14 |
T |
C |
2: 87,792,379 (GRCm39) |
N286D |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,910,741 (GRCm39) |
I154T |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,784,858 (GRCm39) |
W51R |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,942,007 (GRCm39) |
S149P |
probably damaging |
Het |
| Pgap6 |
A |
G |
17: 26,339,290 (GRCm39) |
T535A |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,785,968 (GRCm39) |
L1052Q |
possibly damaging |
Het |
| Pou5f2 |
T |
A |
13: 78,173,370 (GRCm39) |
L104Q |
probably benign |
Het |
| Pramel32 |
T |
A |
4: 88,546,269 (GRCm39) |
I358F |
probably benign |
Het |
| Psme2b |
A |
T |
11: 48,836,576 (GRCm39) |
W124R |
probably damaging |
Het |
| Ptk2b |
G |
A |
14: 66,400,529 (GRCm39) |
S762L |
possibly damaging |
Het |
| Ptprs |
T |
C |
17: 56,744,992 (GRCm39) |
N248S |
probably benign |
Het |
| Rgs22 |
G |
A |
15: 36,080,997 (GRCm39) |
T705I |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,945,709 (GRCm39) |
|
probably null |
Het |
| Sel1l2 |
A |
T |
2: 140,231,515 (GRCm39) |
I13N |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,500,793 (GRCm39) |
T57A |
probably benign |
Het |
| Smpdl3a |
T |
G |
10: 57,685,187 (GRCm39) |
V319G |
probably damaging |
Het |
| Syt9 |
T |
C |
7: 107,035,694 (GRCm39) |
L237P |
probably damaging |
Het |
| Tbc1d16 |
G |
T |
11: 119,044,830 (GRCm39) |
A536E |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,777 (GRCm39) |
D558G |
probably damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,453 (GRCm39) |
M173K |
probably benign |
Het |
| Tek |
A |
G |
4: 94,669,339 (GRCm39) |
I113M |
probably damaging |
Het |
| Tmem50a |
A |
T |
4: 134,636,980 (GRCm39) |
D50E |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,983,862 (GRCm39) |
V10E |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,681 (GRCm39) |
R189* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,578,015 (GRCm39) |
D174E |
possibly damaging |
Het |
| Zc3h10 |
A |
T |
10: 128,380,151 (GRCm39) |
M402K |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,588 (GRCm39) |
H615R |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,126 (GRCm39) |
H161P |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,917,992 (GRCm39) |
F85L |
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 |
|
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 |
|
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'- TGCAGCAGTTCTTGGTATTGGACATAG -3'
(R):5'- AGTTGCGAATACTGGCTCTCTACAAAG -3'
Sequencing Primer
(F):5'- GGTATTGGACATAGCATCTCAGC -3'
(R):5'- TACTGGCTCTCTACAAAGAGAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation