Incidental Mutation 'R7108:Ndst4'
| ID |
551302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
045200-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125355120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 343
(T343A)
|
| 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: T33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
19 |
505 |
1.3e-270 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173932
AA Change: T343A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: T343A
| 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 |
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
| 4930503L19Rik |
A |
T |
18: 70,601,547 (GRCm39) |
Y112N |
probably benign |
Het |
| Abcd2 |
A |
T |
15: 91,075,477 (GRCm39) |
V112E |
probably benign |
Het |
| Acadm |
A |
T |
3: 153,631,437 (GRCm39) |
Y353* |
probably null |
Het |
| Adra2c |
A |
G |
5: 35,437,342 (GRCm39) |
D38G |
probably benign |
Het |
| Ankrd10 |
C |
T |
8: 11,662,624 (GRCm39) |
G370R |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,528 (GRCm39) |
N1324K |
possibly damaging |
Het |
| Atp6v1b2 |
A |
G |
8: 69,555,153 (GRCm39) |
T172A |
probably damaging |
Het |
| Bloc1s1 |
T |
A |
10: 128,758,592 (GRCm39) |
K22M |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,036,099 (GRCm39) |
T599A |
probably benign |
Het |
| Cacna1e |
TTCCAGTCTC |
TTC |
1: 154,344,741 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
C |
19: 56,787,192 (GRCm39) |
D592G |
probably damaging |
Het |
| Cfap161 |
A |
T |
7: 83,442,518 (GRCm39) |
D98E |
possibly damaging |
Het |
| Cfi |
G |
A |
3: 129,668,665 (GRCm39) |
V564M |
probably damaging |
Het |
| Cilp2 |
T |
A |
8: 70,333,779 (GRCm39) |
Q1073L |
probably damaging |
Het |
| Cox6b1 |
A |
G |
7: 30,322,929 (GRCm39) |
C40R |
possibly damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
| Cyth1 |
T |
C |
11: 118,073,739 (GRCm39) |
D198G |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,767,702 (GRCm39) |
D963G |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,433,248 (GRCm39) |
D209E |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
G |
A |
6: 145,131,591 (GRCm39) |
Q351* |
probably null |
Het |
| Dpagt1 |
G |
T |
9: 44,238,318 (GRCm39) |
|
probably benign |
Het |
| Drc3 |
T |
A |
11: 60,261,380 (GRCm39) |
F177Y |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,734,920 (GRCm39) |
V966A |
probably damaging |
Het |
| E4f1 |
A |
G |
17: 24,663,552 (GRCm39) |
V633A |
probably damaging |
Het |
| Eif2ak2 |
T |
A |
17: 79,165,965 (GRCm39) |
R411* |
probably null |
Het |
| Frem2 |
T |
C |
3: 53,560,934 (GRCm39) |
E1191G |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,319,251 (GRCm39) |
V972A |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,414,555 (GRCm39) |
C467S |
|
Het |
| Fscn1 |
T |
C |
5: 142,946,270 (GRCm39) |
Y23H |
probably damaging |
Het |
| Gm16506 |
T |
A |
14: 43,961,759 (GRCm39) |
I163F |
|
Het |
| Gm21103 |
T |
C |
14: 17,484,768 (GRCm39) |
Y92C |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,734,083 (GRCm39) |
H1151R |
probably benign |
Het |
| Gprc5c |
T |
C |
11: 114,755,108 (GRCm39) |
Y262H |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,929,706 (GRCm39) |
N245K |
probably benign |
Het |
| Hps6 |
T |
A |
19: 45,993,929 (GRCm39) |
L622Q |
probably damaging |
Het |
| Hsd17b1 |
T |
C |
11: 100,970,035 (GRCm39) |
Y156H |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,813,925 (GRCm39) |
F799L |
probably damaging |
Het |
| Irf1 |
A |
G |
11: 53,665,238 (GRCm39) |
D205G |
probably damaging |
Het |
| Kif12 |
A |
T |
4: 63,089,442 (GRCm39) |
F103L |
probably benign |
Het |
| Krt12 |
C |
T |
11: 99,306,878 (GRCm39) |
V475M |
unknown |
Het |
| Lca5 |
T |
A |
9: 83,305,222 (GRCm39) |
T195S |
probably benign |
Het |
| Lrrc17 |
T |
C |
5: 21,780,337 (GRCm39) |
V437A |
possibly damaging |
Het |
| Malt1 |
G |
T |
18: 65,597,122 (GRCm39) |
D468Y |
probably damaging |
Het |
| Man2b2 |
C |
T |
5: 36,972,829 (GRCm39) |
A562T |
probably benign |
Het |
| Mrc1 |
C |
T |
2: 14,308,957 (GRCm39) |
Q794* |
probably null |
Het |
| Muc16 |
T |
A |
9: 18,566,529 (GRCm39) |
I1997L |
unknown |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,360,039 (GRCm39) |
F4518Y |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,037,274 (GRCm39) |
I159N |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,943,672 (GRCm39) |
V19A |
probably benign |
Het |
| Nlrp9b |
A |
T |
7: 19,779,855 (GRCm39) |
L839F |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 72,019,198 (GRCm39) |
I9T |
probably benign |
Het |
| Odr4 |
T |
C |
1: 150,258,041 (GRCm39) |
Y198C |
probably benign |
Het |
| Or1l4b |
C |
T |
2: 37,036,272 (GRCm39) |
T16I |
probably benign |
Het |
| Or2ag12 |
G |
A |
7: 106,277,255 (GRCm39) |
A146V |
probably benign |
Het |
| Or2t49 |
T |
A |
11: 58,393,380 (GRCm39) |
M7L |
probably benign |
Het |
| Or52b4i |
A |
T |
7: 102,191,199 (GRCm39) |
I19F |
probably damaging |
Het |
| Or7a35 |
C |
A |
10: 78,853,483 (GRCm39) |
S109* |
probably null |
Het |
| Pou5f2 |
T |
C |
13: 78,173,384 (GRCm39) |
S109P |
possibly damaging |
Het |
| Prkcz |
G |
A |
4: 155,371,250 (GRCm39) |
Q321* |
probably null |
Het |
| Prr18 |
G |
T |
17: 8,560,363 (GRCm39) |
R173L |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,334,380 (GRCm39) |
Y1364H |
probably damaging |
Het |
| Ralgapb |
A |
T |
2: 158,336,582 (GRCm39) |
I1407F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,448,458 (GRCm39) |
Y3501* |
probably null |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,937,659 (GRCm39) |
H1676L |
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,689,470 (GRCm39) |
D178G |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,143,676 (GRCm39) |
K737R |
probably benign |
Het |
| Ssh2 |
G |
A |
11: 77,345,620 (GRCm39) |
V1202I |
probably benign |
Het |
| Stard7 |
A |
G |
2: 127,137,414 (GRCm39) |
D288G |
possibly damaging |
Het |
| Tek |
A |
T |
4: 94,741,724 (GRCm39) |
D827V |
probably damaging |
Het |
| Tfap2e |
A |
G |
4: 126,614,356 (GRCm39) |
L276P |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,387,251 (GRCm39) |
N1312S |
probably benign |
Het |
| Tubd1 |
T |
A |
11: 86,448,631 (GRCm39) |
S315T |
probably damaging |
Het |
| Ube2f |
T |
A |
1: 91,192,941 (GRCm39) |
C50* |
probably null |
Het |
| Vmn2r109 |
T |
C |
17: 20,785,006 (GRCm39) |
I5V |
probably benign |
Het |
| Vmn2r39 |
T |
C |
7: 9,026,667 (GRCm39) |
T445A |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
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 |
|
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'- GTTTCACAGTTTGGTGACCTTC -3'
(R):5'- TCACACAATGCATCAAAGTTGC -3'
Sequencing Primer
(F):5'- GGTGACCTTCAATGAAATAACATCCG -3'
(R):5'- TGCATCAAAGTTGCCCTCTCATAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation