Incidental Mutation 'R5233:Ndst4'
ID |
398086 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ndst4
|
Ensembl Gene |
ENSMUSG00000027971 |
Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
Synonyms |
4930439H17Rik |
MMRRC Submission |
042805-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5233 (G1)
|
Quality Score |
197 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125503766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 11
(Y11C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142414
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
[ENSMUST00000174648]
[ENSMUST00000198101]
|
AlphaFold |
Q9EQW8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173932
AA Change: Y670C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133341 Gene: ENSMUSG00000027971 AA Change: Y670C
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 damaging
Transcript: ENSMUST00000174648
AA Change: Y162C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133575 Gene: ENSMUSG00000027971 AA Change: Y162C
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
86 |
349 |
6.6e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198101
AA Change: Y11C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142414 Gene: ENSMUSG00000027971 AA Change: Y11C
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
3 |
148 |
7e-22 |
PFAM |
|
Meta Mutation Damage Score |
0.9125 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
100% (56/56) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030619P08Rik |
T |
A |
15: 75,301,801 (GRCm39) |
|
noncoding transcript |
Het |
Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
Acsl6 |
G |
A |
11: 54,216,432 (GRCm39) |
V200I |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,633,353 (GRCm39) |
|
probably null |
Het |
Arhgef17 |
A |
T |
7: 100,530,576 (GRCm39) |
D1403E |
possibly damaging |
Het |
Atp10b |
A |
G |
11: 43,121,387 (GRCm39) |
T1017A |
probably benign |
Het |
Capg |
C |
T |
6: 72,532,509 (GRCm39) |
R25C |
probably damaging |
Het |
Cd22 |
A |
G |
7: 30,576,959 (GRCm39) |
I116T |
probably damaging |
Het |
Cep135 |
AGTCTGCCTTTGG |
A |
5: 76,739,690 (GRCm39) |
|
probably benign |
Het |
Ciita |
A |
T |
16: 10,327,265 (GRCm39) |
I277F |
possibly damaging |
Het |
Col15a1 |
T |
C |
4: 47,296,112 (GRCm39) |
V943A |
possibly damaging |
Het |
Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
Csn3 |
C |
T |
5: 88,077,694 (GRCm39) |
P67S |
probably benign |
Het |
Csrnp3 |
A |
G |
2: 65,852,684 (GRCm39) |
T359A |
possibly damaging |
Het |
Cttnbp2nl |
A |
G |
3: 104,912,357 (GRCm39) |
L509P |
probably damaging |
Het |
Dclk3 |
A |
G |
9: 111,297,749 (GRCm39) |
D431G |
probably benign |
Het |
Dtx3l |
A |
T |
16: 35,753,608 (GRCm39) |
C333S |
possibly damaging |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Fam171a1 |
G |
C |
2: 3,179,390 (GRCm39) |
G72A |
probably damaging |
Het |
Fbxw17 |
T |
C |
13: 50,586,390 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
G |
5: 150,393,185 (GRCm39) |
D605G |
possibly damaging |
Het |
Fyn |
T |
C |
10: 39,405,936 (GRCm39) |
F240S |
probably benign |
Het |
Gcfc2 |
T |
C |
6: 81,930,271 (GRCm39) |
L646P |
probably damaging |
Het |
Gm5087 |
C |
T |
14: 13,158,788 (GRCm38) |
|
noncoding transcript |
Het |
Got2 |
T |
A |
8: 96,602,477 (GRCm39) |
N91I |
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,177,802 (GRCm39) |
V103I |
possibly damaging |
Het |
Itgad |
A |
G |
7: 127,792,600 (GRCm39) |
|
probably null |
Het |
Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
Mcph1 |
T |
C |
8: 18,721,254 (GRCm39) |
I694T |
probably damaging |
Het |
Mmp15 |
T |
C |
8: 96,097,696 (GRCm39) |
V502A |
probably benign |
Het |
Mov10l1 |
T |
C |
15: 88,867,235 (GRCm39) |
V23A |
probably benign |
Het |
Myo9a |
T |
A |
9: 59,817,900 (GRCm39) |
N2322K |
probably damaging |
Het |
Nell1 |
T |
C |
7: 49,826,062 (GRCm39) |
F199S |
probably damaging |
Het |
Nup210 |
C |
T |
6: 91,003,951 (GRCm39) |
V646M |
probably damaging |
Het |
Nup98 |
A |
T |
7: 101,845,029 (GRCm39) |
S13R |
unknown |
Het |
Nxf1 |
T |
C |
19: 8,741,293 (GRCm39) |
I54T |
possibly damaging |
Het |
Or8b38 |
A |
G |
9: 37,973,446 (GRCm39) |
T277A |
probably damaging |
Het |
Pcdh10 |
C |
A |
3: 45,338,626 (GRCm39) |
R928S |
probably damaging |
Het |
Pou3f3 |
A |
G |
1: 42,737,438 (GRCm39) |
N378S |
probably benign |
Het |
Rfx6 |
T |
A |
10: 51,588,187 (GRCm39) |
Y109* |
probably null |
Het |
Rorc |
T |
A |
3: 94,304,632 (GRCm39) |
V339D |
probably benign |
Het |
Scin |
T |
A |
12: 40,127,558 (GRCm39) |
I411F |
probably benign |
Het |
Serpind1 |
A |
G |
16: 17,154,758 (GRCm39) |
Y195C |
probably damaging |
Het |
Tas2r117 |
T |
C |
6: 132,780,585 (GRCm39) |
V241A |
possibly damaging |
Het |
Tet3 |
T |
A |
6: 83,363,045 (GRCm39) |
E709V |
probably damaging |
Het |
Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
Vmn1r212 |
C |
A |
13: 23,067,304 (GRCm39) |
G343V |
unknown |
Het |
Vmn2r42 |
T |
A |
7: 8,197,837 (GRCm39) |
K261* |
probably null |
Het |
Xrcc5 |
T |
A |
1: 72,379,209 (GRCm39) |
L438Q |
probably damaging |
Het |
Zfp142 |
T |
C |
1: 74,624,608 (GRCm39) |
N72S |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,809,755 (GRCm39) |
S1096R |
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 |
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'- ACAGCATGGTGACTATGTGGC -3'
(R):5'- TGAAATTCCTTGACCAATTCGG -3'
Sequencing Primer
(F):5'- GGCTGATTTTATAACACACTAATCCC -3'
(R):5'- GATAGCTGATAGACACACTTGTAAC -3'
|
Posted On |
2016-07-06 |