Incidental Mutation 'R5518:Ndst4'
| ID |
431383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
043077-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5518 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125232105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 225
(Y225H)
|
| 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: Y225H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: Y225H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
20 |
505 |
1.2e-251 |
PFAM |
|
Pfam:Sulfotransfer_1
|
594 |
857 |
1.2e-43 |
PFAM |
|
| Meta Mutation Damage Score |
0.0608 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.4%
- 10x: 94.2%
- 20x: 86.3%
|
| Validation Efficiency |
100% (75/75) |
| 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 |
|---|
| Abcc8 |
C |
T |
7: 45,769,873 (GRCm39) |
E881K |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Abl1 |
T |
A |
2: 31,680,754 (GRCm39) |
C349S |
probably damaging |
Het |
| Acot11 |
C |
A |
4: 106,607,207 (GRCm39) |
V459L |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,753,348 (GRCm39) |
V311D |
probably damaging |
Het |
| Ankrd11 |
C |
G |
8: 123,617,733 (GRCm39) |
E2040Q |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,525,869 (GRCm39) |
I359V |
probably benign |
Het |
| Armc3 |
T |
G |
2: 19,302,739 (GRCm39) |
L684V |
probably benign |
Het |
| Asb10 |
G |
A |
5: 24,744,643 (GRCm39) |
P184S |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,042,463 (GRCm39) |
S8P |
possibly damaging |
Het |
| Blk |
G |
T |
14: 63,615,956 (GRCm39) |
S324R |
possibly damaging |
Het |
| C4b |
G |
C |
17: 34,953,416 (GRCm39) |
N1022K |
probably benign |
Het |
| Card6 |
G |
T |
15: 5,134,696 (GRCm39) |
T169K |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,236,844 (GRCm39) |
T268A |
possibly damaging |
Het |
| Cbx3 |
C |
T |
6: 51,458,726 (GRCm39) |
P64S |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,544,567 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,212,534 (GRCm39) |
E899K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,949,387 (GRCm39) |
S749R |
possibly damaging |
Het |
| Cpne3 |
T |
G |
4: 19,553,779 (GRCm39) |
N84T |
probably benign |
Het |
| Dcxr |
A |
C |
11: 120,617,025 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Emsy |
T |
C |
7: 98,242,818 (GRCm39) |
Q1107R |
possibly damaging |
Het |
| Erbb2 |
G |
T |
11: 98,313,596 (GRCm39) |
C221F |
probably damaging |
Het |
| Exoc3l |
T |
C |
8: 106,019,795 (GRCm39) |
N353D |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| G3bp2 |
T |
A |
5: 92,216,347 (GRCm39) |
H63L |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 130,929,428 (GRCm39) |
Y460H |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,865,004 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv5-12-4 |
A |
G |
12: 113,726,154 (GRCm39) |
L23P |
probably damaging |
Het |
| Ins1 |
T |
C |
19: 52,253,177 (GRCm39) |
L39P |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,306,566 (GRCm39) |
V210G |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,683,488 (GRCm39) |
T210S |
probably benign |
Het |
| Krtap24-1 |
A |
T |
16: 88,408,596 (GRCm39) |
F177I |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,506,079 (GRCm39) |
I1963K |
probably benign |
Het |
| Mcat |
A |
G |
15: 83,431,875 (GRCm39) |
|
probably null |
Het |
| Mknk2 |
A |
T |
10: 80,504,475 (GRCm39) |
C229S |
possibly damaging |
Het |
| Mta2 |
C |
A |
19: 8,925,456 (GRCm39) |
Q362K |
probably benign |
Het |
| Or4d11 |
T |
C |
19: 12,013,429 (GRCm39) |
R226G |
probably damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,065,415 (GRCm39) |
D693G |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,368,294 (GRCm39) |
D100N |
possibly damaging |
Het |
| Pld3 |
T |
C |
7: 27,231,796 (GRCm39) |
D465G |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,496,172 (GRCm39) |
Y788H |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 162,120,143 (GRCm39) |
D108V |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,823,354 (GRCm39) |
M475K |
probably benign |
Het |
| Rbak |
A |
G |
5: 143,159,064 (GRCm39) |
L663P |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,719,590 (GRCm39) |
N947D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,702,795 (GRCm39) |
S2898G |
probably benign |
Het |
| Serpina1e |
A |
C |
12: 103,917,087 (GRCm39) |
L194R |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,944,724 (GRCm39) |
S158P |
probably damaging |
Het |
| Smtnl2 |
A |
T |
11: 72,292,342 (GRCm39) |
V269E |
possibly damaging |
Het |
| Snx14 |
G |
T |
9: 88,265,855 (GRCm39) |
P760Q |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,948,508 (GRCm39) |
E759G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,473,588 (GRCm39) |
T4906M |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 75,991,944 (GRCm39) |
F1970I |
possibly damaging |
Het |
| Tekt3 |
C |
A |
11: 62,974,768 (GRCm39) |
H362Q |
probably benign |
Het |
| Tmem121 |
T |
C |
12: 113,152,547 (GRCm39) |
V255A |
possibly damaging |
Het |
| Tmem201 |
T |
C |
4: 149,802,534 (GRCm39) |
T614A |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,935,916 (GRCm39) |
D340G |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,373,794 (GRCm39) |
T1046S |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,952,238 (GRCm39) |
D8G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,937 (GRCm39) |
N850S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,231,417 (GRCm39) |
H451R |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,009,818 (GRCm39) |
C595R |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,583 (GRCm39) |
S182P |
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 |
|
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'- TCATGGAACCGGGAGCTTTTAG -3'
(R):5'- TGAGCTTGTGCAACCAAAAG -3'
Sequencing Primer
(F):5'- CCGGGAGCTTTTAGAAAAATACTG -3'
(R):5'- GCTTGTGCAACCAAAAGTTCAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation