Incidental Mutation 'R8984:Ndst4'
| ID |
683870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
068817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125515810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 312
(G312R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
[ENSMUST00000174648]
[ENSMUST00000198101]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173932
AA Change: G820R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: G820R
| 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: G312R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: G312R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
86 |
349 |
6.6e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198101
|
| SMART Domains |
Protein: ENSMUSP00000142414
Gene: ENSMUSG00000027971
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
3 |
148 |
7e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (68/68) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
A |
9: 122,180,880 (GRCm39) |
V10E |
probably benign |
Het |
| Adss2 |
A |
T |
1: 177,601,280 (GRCm39) |
|
probably benign |
Het |
| AI467606 |
A |
T |
7: 126,691,673 (GRCm39) |
I83F |
probably damaging |
Het |
| Atn1 |
A |
T |
6: 124,723,923 (GRCm39) |
W437R |
unknown |
Het |
| Atxn7l2 |
T |
C |
3: 108,116,290 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,734,936 (GRCm39) |
F750S |
possibly damaging |
Het |
| B3gnt6 |
A |
G |
7: 97,842,821 (GRCm39) |
S380P |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,946,215 (GRCm39) |
Q3020R |
probably damaging |
Het |
| Borcs6 |
A |
T |
11: 68,950,828 (GRCm39) |
I69F |
probably benign |
Het |
| Brd7 |
T |
A |
8: 89,081,340 (GRCm39) |
M170L |
probably benign |
Het |
| Ccdc191 |
T |
A |
16: 43,710,581 (GRCm39) |
|
probably benign |
Het |
| Cit |
C |
T |
5: 116,064,534 (GRCm39) |
T472I |
possibly damaging |
Het |
| Ddx25 |
G |
T |
9: 35,468,685 (GRCm39) |
D57E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,674,436 (GRCm39) |
L447* |
probably null |
Het |
| Epb41l3 |
A |
G |
17: 69,554,641 (GRCm39) |
D247G |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,890,254 (GRCm39) |
V869E |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 125,622,769 (GRCm39) |
I533F |
probably benign |
Het |
| Fam117a |
A |
G |
11: 95,254,823 (GRCm39) |
|
probably null |
Het |
| Fam222a |
C |
T |
5: 114,749,092 (GRCm39) |
T96I |
possibly damaging |
Het |
| Farsa |
C |
T |
8: 85,594,228 (GRCm39) |
T326I |
probably damaging |
Het |
| Fkbp1b |
T |
A |
12: 4,891,401 (GRCm39) |
D12V |
probably damaging |
Het |
| Garin3 |
C |
A |
11: 46,295,695 (GRCm39) |
Y22* |
probably null |
Het |
| Gc |
C |
T |
5: 89,589,421 (GRCm39) |
|
probably null |
Het |
| Git2 |
T |
C |
5: 114,868,256 (GRCm39) |
E705G |
probably damaging |
Het |
| Gm10318 |
G |
A |
10: 77,689,078 (GRCm39) |
C128Y |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,393 (GRCm39) |
A30S |
probably benign |
Het |
| Hcar2 |
G |
A |
5: 124,002,571 (GRCm39) |
R311* |
probably null |
Het |
| Hira |
A |
G |
16: 18,746,261 (GRCm39) |
Q468R |
possibly damaging |
Het |
| Hspa1l |
T |
C |
17: 35,197,092 (GRCm39) |
V377A |
probably damaging |
Het |
| Igkv2-137 |
T |
A |
6: 67,532,659 (GRCm39) |
W14R |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 94,953,391 (GRCm39) |
L317Q |
probably damaging |
Het |
| Jade2 |
A |
C |
11: 51,715,906 (GRCm39) |
L433W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,840,559 (GRCm39) |
T1186A |
probably benign |
Het |
| Krtap28-10 |
C |
A |
1: 83,019,894 (GRCm39) |
C82F |
unknown |
Het |
| Ksr1 |
G |
A |
11: 78,931,709 (GRCm39) |
T333M |
probably damaging |
Het |
| Msi1 |
T |
C |
5: 115,573,598 (GRCm39) |
F132S |
probably damaging |
Het |
| Myo7b |
C |
A |
18: 32,099,402 (GRCm39) |
K1673N |
probably null |
Het |
| Myom3 |
T |
A |
4: 135,515,255 (GRCm39) |
N716K |
|
Het |
| Ndufaf2 |
A |
G |
13: 108,189,316 (GRCm39) |
V144A |
probably benign |
Het |
| Omd |
T |
C |
13: 49,743,576 (GRCm39) |
S209P |
possibly damaging |
Het |
| Or2n1c |
A |
G |
17: 38,519,304 (GRCm39) |
H56R |
probably damaging |
Het |
| Or2t47 |
G |
C |
11: 58,442,209 (GRCm39) |
N285K |
probably damaging |
Het |
| Or51b17 |
G |
A |
7: 103,542,816 (GRCm39) |
T42I |
probably benign |
Het |
| Or51e1 |
T |
A |
7: 102,359,219 (GRCm39) |
I251N |
possibly damaging |
Het |
| Or52a24 |
T |
C |
7: 103,381,220 (GRCm39) |
I29T |
probably damaging |
Het |
| Or52e3 |
T |
C |
7: 102,869,393 (GRCm39) |
L156P |
possibly damaging |
Het |
| Patl1 |
T |
A |
19: 11,898,760 (GRCm39) |
Y152N |
probably damaging |
Het |
| Plaur |
T |
A |
7: 24,164,577 (GRCm39) |
M27K |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,694,439 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,990,100 (GRCm39) |
V1142A |
probably damaging |
Het |
| Psg28 |
T |
A |
7: 18,156,981 (GRCm39) |
N418I |
probably damaging |
Het |
| Ptprd |
A |
T |
4: 75,863,251 (GRCm39) |
F1237I |
probably damaging |
Het |
| Ptprj |
G |
A |
2: 90,270,987 (GRCm39) |
P1247L |
probably damaging |
Het |
| Rbms3 |
A |
T |
9: 116,524,886 (GRCm39) |
|
probably null |
Het |
| Rgs18 |
A |
G |
1: 144,629,566 (GRCm39) |
V231A |
probably benign |
Het |
| Rnf112 |
T |
C |
11: 61,343,277 (GRCm39) |
R156G |
possibly damaging |
Het |
| Rsad1 |
A |
C |
11: 94,439,010 (GRCm39) |
V150G |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,462,005 (GRCm39) |
V350I |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,626,808 (GRCm39) |
I192T |
possibly damaging |
Het |
| Slc25a36 |
G |
A |
9: 96,961,259 (GRCm39) |
T259I |
probably benign |
Het |
| Smarcd3 |
T |
A |
5: 24,798,986 (GRCm39) |
E324V |
probably null |
Het |
| St3gal4 |
A |
G |
9: 34,966,944 (GRCm39) |
V2A |
possibly damaging |
Het |
| Stk17b |
A |
C |
1: 53,796,784 (GRCm39) |
S328A |
probably benign |
Het |
| Tbrg1 |
A |
G |
9: 37,563,949 (GRCm39) |
Y229H |
probably damaging |
Het |
| Tdg |
A |
G |
10: 82,484,514 (GRCm39) |
N409S |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,212,036 (GRCm39) |
E315G |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,867,228 (GRCm39) |
F402L |
probably benign |
Het |
| Trav4-2 |
T |
C |
14: 53,656,190 (GRCm39) |
I64T |
probably benign |
Het |
| Trav4-4-dv10 |
A |
G |
14: 53,921,574 (GRCm39) |
T91A |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,228,346 (GRCm39) |
G352R |
probably damaging |
Het |
| Zfp551 |
C |
A |
7: 12,156,559 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TGAACCACTGTAGAAATGACTTAAG -3'
(R):5'- AAGTGCTTTCCAATGTGTAATAGAG -3'
Sequencing Primer
(F):5'- CTTAAGAAAGAGCAACAGGTATACC -3'
(R):5'- CTTCCTAATTTTCAGATGGCA -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation