Incidental Mutation 'R7592:Ndst4'
| ID |
587438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
045639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125364436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 371
(V371E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120687
Gene: ENSMUSG00000027971
AA Change: V61E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
19 |
505 |
1.3e-270 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173932
AA Change: V371E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: V371E
| 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 |
0.2251 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (56/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,667,138 (GRCm39) |
T204A |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,327,836 (GRCm39) |
T1415A |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 81,986,459 (GRCm39) |
T24A |
probably benign |
Het |
| Ankrd13b |
A |
C |
11: 77,367,327 (GRCm39) |
V194G |
probably benign |
Het |
| Aurkc |
C |
T |
7: 7,003,006 (GRCm39) |
T167I |
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,064,469 (GRCm39) |
Y10C |
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,152,724 (GRCm39) |
S14P |
possibly damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,298 (GRCm39) |
I40F |
probably damaging |
Het |
| Cers3 |
G |
A |
7: 66,439,377 (GRCm39) |
C296Y |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,776,861 (GRCm39) |
C505S |
possibly damaging |
Het |
| Col4a3 |
A |
G |
1: 82,626,338 (GRCm39) |
I92V |
unknown |
Het |
| Col5a3 |
T |
A |
9: 20,708,689 (GRCm39) |
H645L |
unknown |
Het |
| Crispld1 |
A |
T |
1: 17,798,990 (GRCm39) |
E37V |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,357,591 (GRCm39) |
Y1684C |
|
Het |
| Cstdc5 |
A |
T |
16: 36,187,862 (GRCm39) |
M1K |
probably null |
Het |
| Dcst1 |
C |
A |
3: 89,260,599 (GRCm39) |
S555I |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,499,060 (GRCm39) |
S70G |
possibly damaging |
Het |
| Elavl2 |
A |
T |
4: 91,199,808 (GRCm39) |
|
probably null |
Het |
| Emc1 |
A |
G |
4: 139,087,877 (GRCm39) |
H300R |
probably benign |
Het |
| Gcnt4 |
G |
A |
13: 97,083,669 (GRCm39) |
V322I |
probably benign |
Het |
| Gsg1l2 |
A |
G |
11: 67,665,584 (GRCm39) |
N51D |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,114,150 (GRCm39) |
|
probably null |
Het |
| Hip1r |
A |
G |
5: 124,136,036 (GRCm39) |
E579G |
probably benign |
Het |
| Hoxa4 |
T |
C |
6: 52,168,520 (GRCm39) |
H50R |
unknown |
Het |
| Htr7 |
T |
C |
19: 36,034,292 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ift43 |
G |
A |
12: 86,207,964 (GRCm39) |
D111N |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,630,722 (GRCm39) |
V863A |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,686 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
A |
G |
15: 80,095,193 (GRCm39) |
K7E |
probably damaging |
Het |
| Npr1 |
T |
G |
3: 90,372,323 (GRCm39) |
D163A |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,313,589 (GRCm39) |
I330V |
probably benign |
Het |
| Or2a20 |
T |
G |
6: 43,194,179 (GRCm39) |
C111G |
probably damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,020 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or51l4 |
C |
A |
7: 103,404,279 (GRCm39) |
C171F |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,389,128 (GRCm39) |
M139I |
possibly damaging |
Het |
| Poc1a |
A |
T |
9: 106,226,967 (GRCm39) |
R402S |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,193,437 (GRCm39) |
V470L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,220,469 (GRCm39) |
E93G |
probably damaging |
Het |
| Psma1 |
A |
T |
7: 113,868,961 (GRCm39) |
M180K |
probably benign |
Het |
| Pudp |
A |
T |
18: 50,701,053 (GRCm39) |
F227I |
probably damaging |
Het |
| Rab15 |
T |
A |
12: 76,851,223 (GRCm39) |
Q60L |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,497 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,868,876 (GRCm39) |
S976P |
probably damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,540,802 (GRCm39) |
Y219C |
probably damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,831,889 (GRCm39) |
I213K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,881,005 (GRCm39) |
D516E |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,614,543 (GRCm39) |
D184G |
probably damaging |
Het |
| Tars3 |
G |
A |
7: 65,308,619 (GRCm39) |
S263N |
probably benign |
Het |
| Tmem181a |
C |
A |
17: 6,339,295 (GRCm39) |
T68K |
probably benign |
Het |
| Trav21-dv12 |
G |
T |
14: 54,113,997 (GRCm39) |
C39F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,173 (GRCm39) |
E745G |
probably damaging |
Het |
| Ugt1a8 |
T |
A |
1: 88,015,904 (GRCm39) |
F106I |
probably benign |
Het |
| Vmn1r39 |
C |
A |
6: 66,781,428 (GRCm39) |
V297L |
probably benign |
Het |
| Vmn2r101 |
G |
A |
17: 19,811,443 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
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 |
|
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'- GTAGTGTGTATTCATGCTACTTCC -3'
(R):5'- TTGGACACGCAGACTTTGTG -3'
Sequencing Primer
(F):5'- GTGTATTCATGCTACTTCCTCTGTG -3'
(R):5'- AGACTTTGTGTGCCCCGGTAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation