Incidental Mutation 'R7278:Ndst4'
| ID |
571528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
045360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7278 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125231952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 174
(T174A)
|
| 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 |
probably benign
Transcript: ENSMUST00000173932
AA Change: T174A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: T174A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (78/79) |
| 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 |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,237 (GRCm39) |
L142P |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,241,126 (GRCm39) |
R996S |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,151,017 (GRCm39) |
F558L |
possibly damaging |
Het |
| Acp7 |
T |
A |
7: 28,330,307 (GRCm39) |
D2V |
unknown |
Het |
| Acvr1c |
T |
C |
2: 58,174,948 (GRCm39) |
D280G |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,781,380 (GRCm39) |
S1124P |
|
Het |
| B4galnt1 |
A |
T |
10: 127,003,657 (GRCm39) |
T207S |
probably benign |
Het |
| C2cd4d |
C |
A |
3: 94,271,445 (GRCm39) |
T237N |
probably benign |
Het |
| C8b |
T |
C |
4: 104,637,824 (GRCm39) |
C99R |
probably damaging |
Het |
| Ccnk |
C |
A |
12: 108,159,964 (GRCm39) |
Q149K |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,288,226 (GRCm39) |
D47G |
probably benign |
Het |
| Chid1 |
A |
T |
7: 141,109,401 (GRCm39) |
|
probably null |
Het |
| Cibar2 |
T |
A |
8: 120,895,342 (GRCm39) |
T187S |
possibly damaging |
Het |
| Cmya5 |
T |
A |
13: 93,232,208 (GRCm39) |
E960V |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,932,118 (GRCm39) |
S112P |
unknown |
Het |
| Cps1 |
G |
A |
1: 67,210,080 (GRCm39) |
V637I |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,823,102 (GRCm39) |
T390A |
probably benign |
Het |
| Cyp2c54 |
A |
T |
19: 40,058,697 (GRCm39) |
L245* |
probably null |
Het |
| Ddr2 |
G |
T |
1: 169,812,530 (GRCm39) |
T654K |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,868,855 (GRCm39) |
|
probably null |
Het |
| Elavl4 |
C |
T |
4: 110,068,622 (GRCm39) |
|
probably null |
Het |
| Emilin1 |
T |
C |
5: 31,078,004 (GRCm39) |
V921A |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,113,939 (GRCm39) |
E1250D |
probably damaging |
Het |
| Fam228a |
C |
T |
12: 4,782,790 (GRCm39) |
G101E |
probably benign |
Het |
| Gemin4 |
T |
C |
11: 76,102,932 (GRCm39) |
T610A |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,292,880 (GRCm39) |
M1T |
probably null |
Het |
| Gm14399 |
C |
T |
2: 174,972,252 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
C |
T |
2: 70,509,849 (GRCm39) |
T170I |
probably damaging |
Het |
| Gpr37 |
A |
G |
6: 25,669,341 (GRCm39) |
V501A |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,533,356 (GRCm39) |
Q388L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,278,436 (GRCm39) |
D3035E |
probably damaging |
Het |
| Htr4 |
A |
T |
18: 62,545,247 (GRCm39) |
N11Y |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,230,243 (GRCm39) |
S356P |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,764,173 (GRCm39) |
N34D |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,287,500 (GRCm39) |
D62G |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,316,696 (GRCm39) |
G2095E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,334,536 (GRCm39) |
E4407V |
possibly damaging |
Het |
| Mcm5 |
T |
C |
8: 75,851,487 (GRCm39) |
F631L |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,878,071 (GRCm39) |
S170G |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,239 (GRCm39) |
D1395V |
unknown |
Het |
| Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,911,468 (GRCm39) |
D300G |
probably damaging |
Het |
| Naa80 |
T |
C |
9: 107,460,498 (GRCm39) |
L131P |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,580,500 (GRCm39) |
N406I |
probably benign |
Het |
| Nr2c2 |
G |
A |
6: 92,136,359 (GRCm39) |
V400I |
probably damaging |
Het |
| Or1l4 |
T |
C |
2: 37,092,092 (GRCm39) |
Y280H |
probably damaging |
Het |
| Or1l4b |
G |
T |
2: 37,037,021 (GRCm39) |
V266L |
probably benign |
Het |
| Or51aa2 |
A |
T |
7: 103,187,935 (GRCm39) |
Y169N |
probably benign |
Het |
| Or52m1 |
T |
C |
7: 102,290,190 (GRCm39) |
S246P |
probably damaging |
Het |
| Or6b1 |
G |
A |
6: 42,811,330 (GRCm39) |
|
probably null |
Het |
| Or6c5c |
T |
A |
10: 129,298,620 (GRCm39) |
I25N |
probably damaging |
Het |
| Parn |
T |
C |
16: 13,443,927 (GRCm39) |
|
probably null |
Het |
| Pfkl |
T |
C |
10: 77,827,857 (GRCm39) |
T468A |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,768,340 (GRCm39) |
I2205T |
possibly damaging |
Het |
| Prss16 |
A |
T |
13: 22,187,317 (GRCm39) |
N442K |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,957,342 (GRCm39) |
S370P |
probably damaging |
Het |
| Ripk3 |
G |
T |
14: 56,024,741 (GRCm39) |
Y210* |
probably null |
Het |
| Rps6ka2 |
C |
A |
17: 7,539,034 (GRCm39) |
F317L |
probably damaging |
Het |
| Slc13a3 |
G |
A |
2: 165,287,448 (GRCm39) |
R169W |
possibly damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,931,904 (GRCm39) |
I256N |
possibly damaging |
Het |
| Slc6a9 |
G |
A |
4: 117,725,303 (GRCm39) |
R589Q |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,875,077 (GRCm39) |
S442P |
probably damaging |
Het |
| Snupn |
T |
A |
9: 56,890,028 (GRCm39) |
M283K |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,162,087 (GRCm39) |
M395K |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,797,402 (GRCm39) |
P331S |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,115 (GRCm39) |
V154A |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,835,382 (GRCm39) |
S1580P |
probably damaging |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Trav14d-3-dv8 |
G |
A |
14: 53,316,218 (GRCm39) |
R26H |
probably benign |
Het |
| Trp53 |
C |
T |
11: 69,482,081 (GRCm39) |
L365F |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,029,516 (GRCm39) |
I1838N |
probably damaging |
Het |
| Ugt1a5 |
A |
T |
1: 88,094,608 (GRCm39) |
K279* |
probably null |
Het |
| Unc80 |
A |
G |
1: 66,591,368 (GRCm39) |
E1141G |
possibly damaging |
Het |
| Vti1b |
T |
C |
12: 79,213,153 (GRCm39) |
D49G |
probably benign |
Het |
| Wnt10a |
A |
T |
1: 74,832,641 (GRCm39) |
H78L |
possibly damaging |
Het |
| Zfp869 |
G |
A |
8: 70,159,128 (GRCm39) |
H482Y |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,598,314 (GRCm39) |
V638A |
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 |
|
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 |
|
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'- AGATGGTCATTGCTCCAGGC -3'
(R):5'- AGGGACTTTTCTGACTGTAACTC -3'
Sequencing Primer
(F):5'- TCCAGGCAAGGGAGACATACC -3'
(R):5'- CTGTAACTCAGTTAAAAGCACTGGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation