Incidental Mutation 'R8744:Ndst4'
| ID |
663406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
4930439H17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8744 (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 C
at 125506989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 210
(F210L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
[ENSMUST00000174648]
[ENSMUST00000198101]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173932
AA Change: F718L
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: F718L
| 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 |
possibly damaging
Transcript: ENSMUST00000174648
AA Change: F210L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: F210L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
86 |
349 |
6.6e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198101
AA Change: F59L
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142414
Gene: ENSMUSG00000027971
AA Change: F59L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
3 |
148 |
7e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
C |
A |
11: 58,182,260 (GRCm39) |
|
probably null |
Het |
| Adam2 |
A |
G |
14: 66,272,165 (GRCm39) |
|
probably null |
Het |
| Akt2 |
A |
T |
7: 27,317,738 (GRCm39) |
D94V |
probably benign |
Het |
| Anapc7 |
C |
T |
5: 122,566,211 (GRCm39) |
S40L |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,965,890 (GRCm39) |
A2431S |
possibly damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,902 (GRCm39) |
Q199L |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,121,177 (GRCm39) |
C947R |
probably damaging |
Het |
| Ccdc50 |
G |
A |
16: 27,255,148 (GRCm39) |
V199I |
possibly damaging |
Het |
| Ccne1 |
A |
T |
7: 37,802,598 (GRCm39) |
C65S |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,791 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
A |
G |
4: 115,386,667 (GRCm39) |
D438G |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,488,611 (GRCm39) |
H659R |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,089,418 (GRCm39) |
I730V |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,011,220 (GRCm39) |
Q3658* |
probably null |
Het |
| Eif2ak4 |
C |
A |
2: 118,261,474 (GRCm39) |
C671* |
probably null |
Het |
| Eif4g3 |
AGCGGCGGCGGCGGCGGC |
AGCGGCGGCGGCGGC |
4: 137,721,372 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,889,925 (GRCm39) |
H446R |
unknown |
Het |
| Epb41l2 |
C |
T |
10: 25,317,725 (GRCm39) |
L81F |
probably damaging |
Het |
| Ercc8 |
G |
A |
13: 108,320,307 (GRCm39) |
A298T |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,043,880 (GRCm39) |
M648V |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gnpda2 |
C |
T |
5: 69,735,459 (GRCm39) |
A211T |
probably damaging |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,469,926 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Igkv4-81 |
T |
C |
6: 68,968,046 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itgav |
G |
T |
2: 83,600,427 (GRCm39) |
A312S |
probably benign |
Het |
| Itpr1 |
G |
T |
6: 108,354,763 (GRCm39) |
A457S |
possibly damaging |
Het |
| Kcna10 |
T |
C |
3: 107,101,702 (GRCm39) |
L111P |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 63,012,433 (GRCm39) |
R92G |
possibly damaging |
Het |
| Lamc2 |
G |
A |
1: 153,019,484 (GRCm39) |
P486S |
probably benign |
Het |
| Lrba |
C |
T |
3: 86,211,640 (GRCm39) |
T420M |
probably benign |
Het |
| Lrrc52 |
G |
A |
1: 167,294,150 (GRCm39) |
T45M |
probably benign |
Het |
| Lsm8 |
C |
A |
6: 18,853,638 (GRCm39) |
A80E |
probably benign |
Het |
| Ly6g |
T |
A |
15: 75,027,518 (GRCm39) |
S9T |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,857,639 (GRCm39) |
Y159H |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,451,970 (GRCm39) |
|
probably null |
Het |
| Mrpl9 |
T |
A |
3: 94,355,082 (GRCm39) |
|
probably benign |
Het |
| Or13l2 |
A |
G |
3: 97,317,597 (GRCm39) |
V300A |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,723 (GRCm39) |
C167* |
probably null |
Het |
| Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,804,373 (GRCm39) |
H739R |
probably benign |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,827 (GRCm39) |
T628A |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,318,364 (GRCm39) |
R86H |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,461 (GRCm39) |
W72R |
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,464,488 (GRCm39) |
|
probably benign |
Het |
| Rab3b |
A |
T |
4: 108,781,184 (GRCm39) |
I104F |
probably damaging |
Het |
| Rab5b |
A |
T |
10: 128,518,751 (GRCm39) |
V127D |
probably damaging |
Het |
| Rnf170 |
A |
G |
8: 26,619,408 (GRCm39) |
M211V |
unknown |
Het |
| Rpl7 |
T |
C |
1: 16,172,113 (GRCm39) |
T218A |
probably benign |
Het |
| Serinc2 |
T |
C |
4: 130,158,988 (GRCm39) |
|
probably benign |
Het |
| Socs2 |
T |
A |
10: 95,228,662 (GRCm39) |
Q196L |
|
Het |
| Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,099,198 (GRCm39) |
G149D |
probably damaging |
Het |
| Them5 |
T |
C |
3: 94,253,472 (GRCm39) |
S161P |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,873 (GRCm39) |
Y235N |
possibly damaging |
Het |
| Toporsl |
T |
C |
4: 52,611,967 (GRCm39) |
L620P |
probably benign |
Het |
| Traf3 |
A |
T |
12: 111,228,230 (GRCm39) |
E480D |
probably benign |
Het |
| Trav13n-4 |
A |
G |
14: 53,601,399 (GRCm39) |
Y56C |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,642 (GRCm39) |
Y1096C |
probably damaging |
Het |
| Usp2 |
A |
G |
9: 43,998,510 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,911,491 (GRCm39) |
L512Q |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,403 (GRCm39) |
T75A |
probably benign |
Het |
| Zan |
A |
G |
5: 137,426,126 (GRCm39) |
V2550A |
unknown |
Het |
| Zfp235 |
A |
T |
7: 23,839,924 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,945,165 (GRCm39) |
D141E |
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 |
|
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 |
|
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'- AGTCAGACCCTTGTAGACAATCC -3'
(R):5'- AGAGCCCTTTGACTCTATTCTATGG -3'
Sequencing Primer
(F):5'- AGACCCTTGTAGACAATCCTTTCATG -3'
(R):5'- GTTTGGCAGTAAAATGAAATTGTGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation