Incidental Mutation 'R6729:Nceh1'
ID |
529966 |
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 |
044847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6729 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
27237153-27299112 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 27295420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 227
(L227*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046515]
[ENSMUST00000091284]
|
AlphaFold |
Q8BLF1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046515
AA Change: L227*
|
SMART Domains |
Protein: ENSMUSP00000045864 Gene: ENSMUSG00000027698 AA Change: L227*
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
|
Meta Mutation Damage Score |
0.9753 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (34/34) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
A |
T |
5: 121,745,998 (GRCm39) |
H230Q |
probably damaging |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Ank3 |
T |
C |
10: 69,644,755 (GRCm39) |
V73A |
probably damaging |
Het |
Apbb1 |
A |
T |
7: 105,214,588 (GRCm39) |
M28K |
probably damaging |
Het |
Atp6v1f |
A |
G |
6: 29,467,964 (GRCm39) |
D50G |
probably benign |
Het |
Bltp3b |
T |
A |
10: 89,641,546 (GRCm39) |
S906T |
probably benign |
Het |
Cdkal1 |
G |
A |
13: 29,658,678 (GRCm39) |
T356M |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,711,727 (GRCm39) |
I756T |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,218,085 (GRCm39) |
|
probably null |
Het |
Cyp17a1 |
A |
G |
19: 46,659,020 (GRCm39) |
V207A |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,711,681 (GRCm39) |
E2636G |
possibly damaging |
Het |
Gm13090 |
A |
T |
4: 151,174,085 (GRCm39) |
|
probably benign |
Het |
Nedd9 |
A |
G |
13: 41,469,278 (GRCm39) |
M625T |
probably damaging |
Het |
Or10n1 |
A |
T |
9: 39,525,069 (GRCm39) |
M69L |
probably benign |
Het |
Or4d1 |
G |
A |
11: 87,805,676 (GRCm39) |
Q19* |
probably null |
Het |
Or4d10c |
T |
A |
19: 12,065,860 (GRCm39) |
M99L |
probably benign |
Het |
Or8b53 |
A |
G |
9: 38,667,124 (GRCm39) |
I47V |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,160,935 (GRCm39) |
N297S |
probably damaging |
Het |
Psg21 |
T |
A |
7: 18,386,516 (GRCm39) |
I157F |
probably damaging |
Het |
Rabep2 |
T |
C |
7: 126,039,369 (GRCm39) |
V294A |
probably benign |
Het |
Rsph1 |
A |
G |
17: 31,496,226 (GRCm39) |
S2P |
unknown |
Het |
Sacs |
A |
G |
14: 61,447,967 (GRCm39) |
K3338E |
probably damaging |
Het |
Slc35f4 |
T |
G |
14: 49,556,417 (GRCm39) |
N112T |
probably benign |
Het |
Slc43a3 |
T |
C |
2: 84,768,629 (GRCm39) |
F83L |
probably damaging |
Het |
Slc6a15 |
T |
C |
10: 103,229,775 (GRCm39) |
V154A |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,036,289 (GRCm39) |
M1K |
probably null |
Het |
Tcp1 |
G |
A |
17: 13,142,140 (GRCm39) |
R378Q |
probably damaging |
Het |
Tead2 |
A |
G |
7: 44,866,658 (GRCm39) |
T6A |
probably benign |
Het |
Tpte |
G |
T |
8: 22,845,491 (GRCm39) |
V514L |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,807,661 (GRCm39) |
N1069D |
probably damaging |
Het |
Vmn2r105 |
C |
A |
17: 20,428,605 (GRCm39) |
G824C |
probably damaging |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp934 |
A |
T |
13: 62,640,746 (GRCm39) |
N2K |
probably 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 |
R0854:Nceh1
|
UTSW |
3 |
27,295,468 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TCCTTAGGGATTATCCAGTAGCTTG -3'
(R):5'- TTTTGATGGACGAGGGCAAC -3'
Sequencing Primer
(F):5'- ATCCAGTAGCTTGGTGTGC -3'
(R):5'- GCAACAGGGATGTCCAGTC -3'
|
Posted On |
2018-08-01 |