Incidental Mutation 'R4496:Ndst4'
ID |
330968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ndst4
|
Ensembl Gene |
ENSMUSG00000027971 |
Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
Synonyms |
4930439H17Rik |
MMRRC Submission |
041749-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R4496 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 125476922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 49
(A49D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
[ENSMUST00000174648]
|
AlphaFold |
Q9EQW8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172632
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173932
AA Change: A557D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133341 Gene: ENSMUSG00000027971 AA Change: A557D
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: A49D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133575 Gene: ENSMUSG00000027971 AA Change: A49D
Domain | Start | End | E-Value | Type |
Pfam:Sulfotransfer_1
|
86 |
349 |
6.6e-44 |
PFAM |
|
Meta Mutation Damage Score |
0.3947 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (50/50) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,602,947 (GRCm39) |
L514H |
possibly damaging |
Het |
Abca7 |
T |
C |
10: 79,838,768 (GRCm39) |
F647S |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,841,444 (GRCm39) |
K244E |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,693,839 (GRCm39) |
D17N |
probably damaging |
Het |
Arvcf |
G |
T |
16: 18,223,932 (GRCm39) |
K890N |
probably damaging |
Het |
Atosa |
T |
A |
9: 74,938,813 (GRCm39) |
S1038T |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,326,104 (GRCm39) |
D478G |
probably damaging |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
C |
T |
3: 144,797,926 (GRCm39) |
D180N |
possibly damaging |
Het |
Comt |
T |
C |
16: 18,230,437 (GRCm39) |
|
probably null |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Cyp2d11 |
C |
T |
15: 82,276,149 (GRCm39) |
|
probably benign |
Het |
Fam169b |
G |
T |
7: 68,007,954 (GRCm39) |
C289F |
possibly damaging |
Het |
Fastkd5 |
T |
C |
2: 130,458,501 (GRCm39) |
T30A |
probably benign |
Het |
Fchsd2 |
A |
C |
7: 100,931,702 (GRCm39) |
T753P |
probably benign |
Het |
Gatd3a |
T |
C |
10: 77,999,377 (GRCm39) |
I145V |
probably damaging |
Het |
Glis3 |
G |
A |
19: 28,643,527 (GRCm39) |
S5L |
possibly damaging |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Gpt |
A |
T |
15: 76,582,663 (GRCm39) |
Q276L |
probably damaging |
Het |
Gtf3c3 |
G |
T |
1: 54,463,291 (GRCm39) |
S302R |
probably benign |
Het |
Hnrnpc |
A |
G |
14: 52,312,888 (GRCm39) |
S229P |
probably benign |
Het |
Ikzf5 |
T |
C |
7: 130,998,393 (GRCm39) |
|
probably null |
Het |
Mal2 |
T |
C |
15: 54,461,835 (GRCm39) |
V110A |
probably damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,084,748 (GRCm39) |
D702G |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nat10 |
T |
A |
2: 103,588,084 (GRCm39) |
I14F |
probably damaging |
Het |
Nat14 |
C |
T |
7: 4,926,918 (GRCm39) |
T30M |
probably damaging |
Het |
Nnt |
A |
T |
13: 119,518,301 (GRCm39) |
M292K |
probably damaging |
Het |
Obox7 |
C |
T |
7: 14,399,299 (GRCm39) |
T175I |
probably benign |
Het |
Or2t26 |
T |
A |
11: 49,039,214 (GRCm39) |
N43K |
possibly damaging |
Het |
Or6c5c |
T |
G |
10: 129,299,430 (GRCm39) |
V295G |
possibly damaging |
Het |
Plekhm3 |
T |
C |
1: 64,900,395 (GRCm39) |
E634G |
probably damaging |
Het |
Plxdc2 |
T |
A |
2: 16,517,040 (GRCm39) |
I107K |
probably damaging |
Het |
Psmb10 |
T |
A |
8: 106,662,660 (GRCm39) |
R226S |
probably damaging |
Het |
Ptprr |
T |
A |
10: 116,065,407 (GRCm39) |
V160E |
possibly damaging |
Het |
Sema5a |
T |
A |
15: 32,641,133 (GRCm39) |
L649H |
probably damaging |
Het |
Sephs1 |
T |
A |
2: 4,911,494 (GRCm39) |
I356K |
probably benign |
Het |
Serpinb3d |
C |
T |
1: 107,007,022 (GRCm39) |
V229M |
probably damaging |
Het |
Slc7a4 |
T |
C |
16: 17,393,676 (GRCm39) |
D41G |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,217,461 (GRCm39) |
V121A |
probably benign |
Het |
Tcf20 |
C |
A |
15: 82,739,185 (GRCm39) |
Q755H |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttll13 |
A |
T |
7: 79,906,667 (GRCm39) |
Y445F |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,923,459 (GRCm39) |
I271V |
possibly damaging |
Het |
Vmn1r72 |
A |
G |
7: 11,403,791 (GRCm39) |
I219T |
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 |
|
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'- GTATGCTTATGAGACTGAGGGATC -3'
(R):5'- GGCACTATGCTAGCTGGAAAAG -3'
Sequencing Primer
(F):5'- TGAGACTGAGGGATCATTTTTATTTC -3'
(R):5'- TGCTAGCTGGAAAAGGGAATAGTTTG -3'
|
Posted On |
2015-07-21 |