Incidental Mutation 'R3713:Ndst4'
| ID |
259720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| MMRRC Submission |
040706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125197725-125522548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125355154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 354
(H354L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144344
AA Change: H44L
|
| SMART Domains |
Protein: ENSMUSP00000120687
Gene: ENSMUSG00000027971
AA Change: H44L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
19 |
505 |
1.3e-270 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147016
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173932
AA Change: H354L
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: H354L
| 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 |
0.4595 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (67/67) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
| Aak1 |
T |
A |
6: 86,932,172 (GRCm39) |
I381N |
probably benign |
Het |
| Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
| Adgrf2 |
A |
G |
17: 43,023,979 (GRCm39) |
V164A |
probably damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,793,297 (GRCm39) |
A1513T |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,235,929 (GRCm39) |
M168T |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,095,374 (GRCm39) |
T196I |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,495,102 (GRCm39) |
E1042G |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,876,508 (GRCm39) |
D8G |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,498,118 (GRCm39) |
T302A |
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,651,183 (GRCm39) |
I110N |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,493,263 (GRCm39) |
S762N |
possibly damaging |
Het |
| Cecr2 |
T |
C |
6: 120,735,221 (GRCm39) |
L819P |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,121,538 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
G |
T |
9: 108,793,508 (GRCm39) |
G1357* |
probably null |
Het |
| Cux1 |
A |
G |
5: 136,594,397 (GRCm39) |
|
probably benign |
Het |
| Cwh43 |
A |
T |
5: 73,595,835 (GRCm39) |
I535F |
probably damaging |
Het |
| Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,534,747 (GRCm39) |
V2081A |
probably benign |
Het |
| Efcab5 |
A |
T |
11: 77,007,008 (GRCm39) |
L872Q |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,344 (GRCm39) |
Y163C |
probably damaging |
Het |
| Fam221a |
T |
C |
6: 49,349,548 (GRCm39) |
Y38H |
probably damaging |
Het |
| Foxred1 |
A |
G |
9: 35,122,186 (GRCm39) |
M1T |
probably null |
Het |
| Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
| Galp |
A |
T |
7: 6,216,836 (GRCm39) |
D72V |
probably damaging |
Het |
| Gm9843 |
A |
G |
16: 76,200,419 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,732,076 (GRCm39) |
Y98H |
probably damaging |
Het |
| Lrrc63 |
T |
G |
14: 75,344,776 (GRCm39) |
Y437S |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,410,576 (GRCm39) |
E448G |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,504,194 (GRCm39) |
H404R |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,973,131 (GRCm39) |
I1045V |
probably benign |
Het |
| Mroh3 |
T |
C |
1: 136,113,714 (GRCm39) |
T692A |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,298,410 (GRCm39) |
F542S |
probably damaging |
Het |
| Napsa |
A |
G |
7: 44,230,852 (GRCm39) |
Y73C |
probably damaging |
Het |
| Neil1 |
A |
T |
9: 57,054,254 (GRCm39) |
V22E |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 23,172,994 (GRCm39) |
I36V |
probably damaging |
Het |
| Nprl3 |
G |
A |
11: 32,205,464 (GRCm39) |
T111I |
probably damaging |
Het |
| Or12k8 |
A |
G |
2: 36,975,517 (GRCm39) |
M81T |
possibly damaging |
Het |
| Or1e26 |
A |
T |
11: 73,479,731 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
| Pald1 |
G |
A |
10: 61,178,144 (GRCm39) |
T624I |
possibly damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,576,786 (GRCm39) |
P388L |
probably damaging |
Het |
| Pcdhga6 |
T |
C |
18: 37,840,976 (GRCm39) |
V232A |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,570,928 (GRCm39) |
I388V |
probably damaging |
Het |
| Phactr2 |
C |
A |
10: 13,264,476 (GRCm39) |
|
probably benign |
Het |
| Prdx5 |
T |
C |
19: 6,885,477 (GRCm39) |
D56G |
probably damaging |
Het |
| Ptprh |
A |
T |
7: 4,574,969 (GRCm39) |
I350N |
probably damaging |
Het |
| Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
| Reln |
A |
G |
5: 22,109,732 (GRCm39) |
V3126A |
probably damaging |
Het |
| Rpl21 |
G |
A |
5: 146,771,847 (GRCm39) |
G59S |
possibly damaging |
Het |
| Rsph6a |
G |
A |
7: 18,791,475 (GRCm39) |
V215M |
probably damaging |
Het |
| Smcp |
T |
C |
3: 92,491,431 (GRCm39) |
K139E |
unknown |
Het |
| Stag1 |
A |
G |
9: 100,771,671 (GRCm39) |
T699A |
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
| Tle1 |
G |
T |
4: 72,044,659 (GRCm39) |
H459Q |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,081 (GRCm39) |
N63Y |
probably damaging |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,139 (GRCm39) |
N40S |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,077,648 (GRCm39) |
D1107G |
possibly damaging |
Het |
| Zfp101 |
A |
G |
17: 33,600,880 (GRCm39) |
M292T |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,961,270 (GRCm39) |
C620* |
probably null |
Het |
| Zscan4b |
T |
C |
7: 10,635,818 (GRCm39) |
T170A |
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 |
|
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 |
|
|
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'- GGCTCACTAAGGCTCTTATTGTTTC -3'
(R):5'- ACTTGGCACCGTGATGATGG -3'
Sequencing Primer
(F):5'- TCTCTCATGCACACACACTG -3'
(R):5'- ACCGTGATGATGGTTCCTCTTACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation