Incidental Mutation 'R9402:Ndst4'
| ID |
711270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst4
|
| Ensembl Gene |
ENSMUSG00000027971 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
125404076-125728899 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125724736 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 354
(S354L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173932]
[ENSMUST00000174648]
[ENSMUST00000198101]
|
| AlphaFold |
Q9EQW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173932
AA Change: S862L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: S862L
| 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 benign
Transcript: ENSMUST00000174648
AA Change: S354L
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: S354L
| 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 |
|
| Meta Mutation Damage Score |
0.1106 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,158,328 (GRCm38) |
Q218L |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,648,423 (GRCm38) |
F1083S |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,701,323 (GRCm38) |
N257D |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,932,821 (GRCm38) |
M692L |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,635,949 (GRCm38) |
P1530Q |
unknown |
Het |
| Crim1 |
CCGC |
CC |
17: 78,350,865 (GRCm38) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,491,209 (GRCm38) |
|
probably null |
Het |
| Daam1 |
A |
G |
12: 71,959,830 (GRCm38) |
T674A |
probably benign |
Het |
| Elp2 |
A |
T |
18: 24,626,163 (GRCm38) |
I526L |
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,476,143 (GRCm38) |
*523K |
probably null |
Het |
| Fbxl7 |
G |
A |
15: 26,552,503 (GRCm38) |
S226L |
probably damaging |
Het |
| Fbxl9 |
T |
A |
8: 105,323,356 (GRCm38) |
Y12F |
probably benign |
Het |
| Fry |
G |
A |
5: 150,433,696 (GRCm38) |
E1903K |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,436,853 (GRCm38) |
R1988K |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,176,202 (GRCm38) |
M206K |
probably damaging |
Het |
| Gbp10 |
T |
A |
5: 105,233,997 (GRCm38) |
T96S |
possibly damaging |
Het |
| Gm14569 |
G |
A |
X: 36,430,896 (GRCm38) |
P1387S |
probably damaging |
Het |
| Gpaa1 |
A |
G |
15: 76,332,218 (GRCm38) |
T105A |
probably benign |
Het |
| Hoxc13 |
C |
A |
15: 102,921,616 (GRCm38) |
C143* |
probably null |
Het |
| Htt |
T |
C |
5: 34,848,980 (GRCm38) |
I1411T |
probably damaging |
Het |
| Inava |
T |
G |
1: 136,227,610 (GRCm38) |
S86R |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,499,170 (GRCm38) |
C46Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,780,416 (GRCm38) |
Y453C |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,822,210 (GRCm38) |
Y460N |
possibly damaging |
Het |
| Lamb3 |
C |
A |
1: 193,331,396 (GRCm38) |
T526K |
|
Het |
| Luzp1 |
T |
A |
4: 136,543,182 (GRCm38) |
H905Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,637,878 (GRCm38) |
H958Q |
probably benign |
Het |
| Magi1 |
T |
C |
6: 94,283,297 (GRCm38) |
N9S |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,281,107 (GRCm38) |
V231E |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,845,414 (GRCm38) |
M364K |
unknown |
Het |
| Nae1 |
A |
G |
8: 104,528,185 (GRCm38) |
|
probably null |
Het |
| Nlgn2 |
A |
G |
11: 69,828,107 (GRCm38) |
F252S |
|
Het |
| Nlrp9a |
A |
T |
7: 26,570,605 (GRCm38) |
N874I |
possibly damaging |
Het |
| Nodal |
T |
C |
10: 61,423,600 (GRCm38) |
I272T |
probably damaging |
Het |
| Or4a15 |
C |
A |
2: 89,362,779 (GRCm38) |
G217* |
probably null |
Het |
| Or4c12 |
A |
T |
2: 89,943,940 (GRCm38) |
Y58* |
probably null |
Het |
| Or51a24 |
G |
A |
7: 104,084,403 (GRCm38) |
R226* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 103,338,989 (GRCm38) |
S312P |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,345,132 (GRCm38) |
Q61K |
possibly damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,447,206 (GRCm38) |
V371A |
probably damaging |
Het |
| Pcdhb19 |
C |
T |
18: 37,499,479 (GRCm38) |
Q776* |
probably null |
Het |
| Phf14 |
A |
G |
6: 11,933,780 (GRCm38) |
R214G |
possibly damaging |
Het |
| Phf3 |
G |
A |
1: 30,811,847 (GRCm38) |
T1142M |
probably damaging |
Het |
| Pigz |
A |
G |
16: 31,945,369 (GRCm38) |
E415G |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 144,271,456 (GRCm38) |
T406A |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,911,971 (GRCm38) |
E1082G |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,985,963 (GRCm38) |
C445R |
unknown |
Het |
| Scn3b |
A |
T |
9: 40,282,556 (GRCm38) |
E193V |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,680,112 (GRCm38) |
N1315K |
probably damaging |
Het |
| Snx14 |
C |
T |
9: 88,407,437 (GRCm38) |
G254D |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,099,277 (GRCm38) |
D560G |
probably benign |
Het |
| Srp72 |
T |
A |
5: 76,976,482 (GRCm38) |
L65* |
probably null |
Het |
| Steap1 |
T |
A |
5: 5,740,664 (GRCm38) |
I95F |
|
Het |
| Taf3 |
A |
G |
2: 9,951,112 (GRCm38) |
|
probably null |
Het |
| Taok2 |
T |
C |
7: 126,870,228 (GRCm38) |
N1143D |
|
Het |
| Tas2r114 |
C |
T |
6: 131,689,931 (GRCm38) |
G45S |
possibly damaging |
Het |
| Tcerg1l |
T |
C |
7: 138,209,822 (GRCm38) |
K548E |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 12,922,618 (GRCm38) |
L328Q |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,113,188 (GRCm38) |
H1096R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,846,256 (GRCm38) |
Y233N |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 89,102,861 (GRCm38) |
V1303A |
probably benign |
Het |
| Ugt1a2 |
T |
C |
1: 88,200,962 (GRCm38) |
F109S |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,869,895 (GRCm38) |
T203M |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,545,392 (GRCm38) |
V54A |
probably benign |
Het |
|
| Other mutations in Ndst4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00920:Ndst4
|
APN |
3 |
125,438,211 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00926:Ndst4
|
APN |
3 |
125,561,453 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01292:Ndst4
|
APN |
3 |
125,438,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01797:Ndst4
|
APN |
3 |
125,683,153 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0004:Ndst4
|
UTSW |
3 |
125,570,826 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0118:Ndst4
|
UTSW |
3 |
125,611,561 (GRCm38) |
nonsense |
probably null |
|
|
R0652:Ndst4
|
UTSW |
3 |
125,611,539 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1437:Ndst4
|
UTSW |
3 |
125,561,450 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1502:Ndst4
|
UTSW |
3 |
125,437,758 (GRCm38) |
start gained |
probably benign |
|
|
R1900:Ndst4
|
UTSW |
3 |
125,697,895 (GRCm38) |
splice site |
probably null |
|
|
R1960:Ndst4
|
UTSW |
3 |
125,438,682 (GRCm38) |
nonsense |
probably null |
|
|
R2249:Ndst4
|
UTSW |
3 |
125,438,174 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2334:Ndst4
|
UTSW |
3 |
125,708,176 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2345:Ndst4
|
UTSW |
3 |
125,708,120 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3617:Ndst4
|
UTSW |
3 |
125,438,133 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3713:Ndst4
|
UTSW |
3 |
125,561,505 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3715:Ndst4
|
UTSW |
3 |
125,561,505 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3954:Ndst4
|
UTSW |
3 |
125,437,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4013:Ndst4
|
UTSW |
3 |
125,683,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4035:Ndst4
|
UTSW |
3 |
125,438,736 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4085:Ndst4
|
UTSW |
3 |
125,609,482 (GRCm38) |
missense |
probably benign |
|
|
R4496:Ndst4
|
UTSW |
3 |
125,683,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4498:Ndst4
|
UTSW |
3 |
125,438,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5187:Ndst4
|
UTSW |
3 |
125,437,911 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5233:Ndst4
|
UTSW |
3 |
125,710,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5518:Ndst4
|
UTSW |
3 |
125,438,456 (GRCm38) |
missense |
probably benign |
|
|
R5575:Ndst4
|
UTSW |
3 |
125,437,830 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5687:Ndst4
|
UTSW |
3 |
125,438,609 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5940:Ndst4
|
UTSW |
3 |
125,561,419 (GRCm38) |
splice site |
probably benign |
|
|
R6027:Ndst4
|
UTSW |
3 |
125,713,376 (GRCm38) |
missense |
probably benign |
0.38 |
|
R6406:Ndst4
|
UTSW |
3 |
125,438,501 (GRCm38) |
missense |
probably benign |
|
|
R6540:Ndst4
|
UTSW |
3 |
125,722,152 (GRCm38) |
nonsense |
probably null |
|
|
R6941:Ndst4
|
UTSW |
3 |
125,609,511 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7108:Ndst4
|
UTSW |
3 |
125,561,471 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7269:Ndst4
|
UTSW |
3 |
125,438,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7278:Ndst4
|
UTSW |
3 |
125,438,303 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7345:Ndst4
|
UTSW |
3 |
125,714,659 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7405:Ndst4
|
UTSW |
3 |
125,683,216 (GRCm38) |
missense |
probably benign |
|
|
R7418:Ndst4
|
UTSW |
3 |
125,708,151 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7592:Ndst4
|
UTSW |
3 |
125,570,787 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7714:Ndst4
|
UTSW |
3 |
125,570,844 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7955:Ndst4
|
UTSW |
3 |
125,438,182 (GRCm38) |
nonsense |
probably null |
|
|
R8070:Ndst4
|
UTSW |
3 |
125,714,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8412:Ndst4
|
UTSW |
3 |
125,570,790 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8553:Ndst4
|
UTSW |
3 |
125,710,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8744:Ndst4
|
UTSW |
3 |
125,713,340 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8933:Ndst4
|
UTSW |
3 |
125,611,506 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8940:Ndst4
|
UTSW |
3 |
125,681,153 (GRCm38) |
start gained |
probably benign |
|
|
R8984:Ndst4
|
UTSW |
3 |
125,722,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9147:Ndst4
|
UTSW |
3 |
125,438,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9148:Ndst4
|
UTSW |
3 |
125,438,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9194:Ndst4
|
UTSW |
3 |
125,724,736 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9196:Ndst4
|
UTSW |
3 |
125,724,736 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9202:Ndst4
|
UTSW |
3 |
125,724,736 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9203:Ndst4
|
UTSW |
3 |
125,724,736 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9217:Ndst4
|
UTSW |
3 |
125,724,736 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9311:Ndst4
|
UTSW |
3 |
125,724,736 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9355:Ndst4
|
UTSW |
3 |
125,609,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9415:Ndst4
|
UTSW |
3 |
125,724,736 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9475:Ndst4
|
UTSW |
3 |
125,714,647 (GRCm38) |
nonsense |
probably null |
|
|
R9544:Ndst4
|
UTSW |
3 |
125,683,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9588:Ndst4
|
UTSW |
3 |
125,683,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9626:Ndst4
|
UTSW |
3 |
125,683,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9640:Ndst4
|
UTSW |
3 |
125,438,547 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9691:Ndst4
|
UTSW |
3 |
125,724,695 (GRCm38) |
missense |
unknown |
|
|
R9716:Ndst4
|
UTSW |
3 |
125,438,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0027:Ndst4
|
UTSW |
3 |
125,437,946 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Ndst4
|
UTSW |
3 |
125,570,740 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCTCCCAGGTACTCTACTG -3'
(R):5'- GCCAATGCGTGCATATATGTTTTC -3'
Sequencing Primer
(F):5'- AAAAAGGTAAACTGTTTTGTCGATAC -3'
(R):5'- GCGTGCATATATGTTTTCATTTGAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation