Incidental Mutation 'R0854:Nceh1'
| ID |
82649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nceh1
|
| Ensembl Gene |
ENSMUSG00000027698 |
| Gene Name |
neutral cholesterol ester hydrolase 1 |
| Synonyms |
mKIAA1363, CPO-BP, Aadacl1, B230106I24Rik |
| MMRRC Submission |
039033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R0854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27237153-27299112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27295468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 243
(L243Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046515]
[ENSMUST00000091284]
|
| AlphaFold |
Q8BLF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046515
AA Change: L243Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045864
Gene: ENSMUSG00000027698
AA Change: L243Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
109 |
290 |
6.6e-36 |
PFAM |
|
Pfam:Abhydrolase_3
|
294 |
382 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091284
|
| SMART Domains |
Protein: ENSMUSP00000088829
Gene: ENSMUSG00000027698
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
109 |
152 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140872
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal organophosphorus metabolism and cholesterol homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
A |
11: 69,055,302 (GRCm39) |
|
probably null |
Het |
| Brox |
T |
G |
1: 183,069,322 (GRCm39) |
R128S |
possibly damaging |
Het |
| Cfap57 |
G |
A |
4: 118,419,069 (GRCm39) |
T1153I |
probably benign |
Het |
| Ddt |
C |
T |
10: 75,607,329 (GRCm39) |
R54H |
probably benign |
Het |
| Epm2aip1 |
T |
A |
9: 111,101,567 (GRCm39) |
L180* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,431,037 (GRCm39) |
I231V |
probably benign |
Het |
| Gng7 |
A |
G |
10: 80,787,507 (GRCm39) |
V52A |
possibly damaging |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,272 (GRCm39) |
H93R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,599,329 (GRCm39) |
H3292L |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,166,426 (GRCm39) |
E188G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,149,973 (GRCm39) |
L1844P |
possibly damaging |
Het |
| Ncan |
G |
T |
8: 70,565,202 (GRCm39) |
R242S |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,787,546 (GRCm39) |
S369T |
probably damaging |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Pask |
T |
A |
1: 93,255,122 (GRCm39) |
K316M |
probably damaging |
Het |
| Pask |
T |
A |
1: 93,255,156 (GRCm39) |
T305S |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,255,134 (GRCm39) |
K312R |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,739,408 (GRCm39) |
Y40C |
probably damaging |
Het |
| Sema6d |
C |
T |
2: 124,507,222 (GRCm39) |
T1010M |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,748,587 (GRCm39) |
G433E |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,331,237 (GRCm39) |
I129N |
probably damaging |
Het |
| Tsc22d1 |
C |
T |
14: 76,655,641 (GRCm39) |
Q625* |
probably null |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r58 |
T |
G |
7: 41,486,562 (GRCm39) |
N778H |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,156,916 (GRCm39) |
V7I |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,577 (GRCm39) |
V102A |
possibly damaging |
Het |
|
| Other mutations in Nceh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Nceh1
|
APN |
3 |
27,295,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02113:Nceh1
|
APN |
3 |
27,277,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cerdo
|
UTSW |
3 |
27,295,420 (GRCm39) |
nonsense |
probably null |
|
|
BB006:Nceh1
|
UTSW |
3 |
27,333,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB016:Nceh1
|
UTSW |
3 |
27,333,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0281:Nceh1
|
UTSW |
3 |
27,276,953 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1562:Nceh1
|
UTSW |
3 |
27,293,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Nceh1
|
UTSW |
3 |
27,280,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1918:Nceh1
|
UTSW |
3 |
27,237,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Nceh1
|
UTSW |
3 |
27,295,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3959:Nceh1
|
UTSW |
3 |
27,333,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4420:Nceh1
|
UTSW |
3 |
27,295,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Nceh1
|
UTSW |
3 |
27,295,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Nceh1
|
UTSW |
3 |
27,295,677 (GRCm39) |
missense |
probably benign |
|
|
R5243:Nceh1
|
UTSW |
3 |
27,295,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Nceh1
|
UTSW |
3 |
27,237,288 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5598:Nceh1
|
UTSW |
3 |
27,280,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6076:Nceh1
|
UTSW |
3 |
27,333,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6337:Nceh1
|
UTSW |
3 |
27,276,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6729:Nceh1
|
UTSW |
3 |
27,295,420 (GRCm39) |
nonsense |
probably null |
|
|
R6744:Nceh1
|
UTSW |
3 |
27,295,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Nceh1
|
UTSW |
3 |
27,237,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7749:Nceh1
|
UTSW |
3 |
27,261,531 (GRCm39) |
missense |
probably benign |
|
|
R7929:Nceh1
|
UTSW |
3 |
27,333,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8040:Nceh1
|
UTSW |
3 |
27,295,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Nceh1
|
UTSW |
3 |
27,293,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8450:Nceh1
|
UTSW |
3 |
27,293,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8969:Nceh1
|
UTSW |
3 |
27,276,885 (GRCm39) |
missense |
probably null |
0.00 |
|
R9004:Nceh1
|
UTSW |
3 |
27,293,726 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9202:Nceh1
|
UTSW |
3 |
27,333,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9242:Nceh1
|
UTSW |
3 |
27,293,777 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAACCCTGGAGTCCCACCATC -3'
(R):5'- CGTTCCCTGTGGTCTGCATGATAG -3'
Sequencing Primer
(F):5'- GGTTTAGCGACATCAGAGTTCAC -3'
(R):5'- AGGCTTGTAGTTCTTTTTGATGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation