Incidental Mutation 'R6076:Nceh1'
| ID |
482730 |
| 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 |
044237-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6076 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27237153-27299112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 27333344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 147
(I147L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091284]
|
| AlphaFold |
Q8BLF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091284
AA Change: I147L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000088829
Gene: ENSMUSG00000027698
AA Change: I147L
| 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: ENSMUST00000193346
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,945,886 (GRCm39) |
I723N |
probably damaging |
Het |
| C530025M09Rik |
T |
C |
2: 149,672,670 (GRCm39) |
|
probably benign |
Het |
| Cdkn1a |
A |
G |
17: 29,318,332 (GRCm39) |
K149E |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,180,558 (GRCm39) |
I571N |
probably damaging |
Het |
| Cimip4 |
T |
C |
15: 78,270,427 (GRCm39) |
R114G |
possibly damaging |
Het |
| Col9a1 |
A |
T |
1: 24,234,457 (GRCm39) |
|
probably benign |
Het |
| Csde1 |
G |
A |
3: 102,948,545 (GRCm39) |
D132N |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,425,895 (GRCm39) |
Q256R |
probably damaging |
Het |
| Epha6 |
A |
T |
16: 60,026,073 (GRCm39) |
D456E |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,330,297 (GRCm39) |
V354A |
probably damaging |
Het |
| Fpr-rs4 |
A |
G |
17: 18,242,317 (GRCm39) |
N108S |
probably damaging |
Het |
| Gimap1 |
C |
T |
6: 48,719,521 (GRCm39) |
Q116* |
probably null |
Het |
| Gm10784 |
T |
C |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
G |
C |
5: 143,373,130 (GRCm39) |
S736T |
probably benign |
Het |
| Hic1 |
T |
C |
11: 75,058,154 (GRCm39) |
D245G |
probably damaging |
Het |
| Hpcal4 |
C |
A |
4: 123,084,514 (GRCm39) |
Q148K |
probably benign |
Het |
| Hspa14 |
C |
T |
2: 3,512,109 (GRCm39) |
S55N |
probably benign |
Het |
| Hspa1b |
G |
A |
17: 35,176,473 (GRCm39) |
T504I |
probably damaging |
Het |
| Jchain |
G |
T |
5: 88,675,631 (GRCm39) |
T3N |
probably benign |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,481,954 (GRCm39) |
T115A |
probably damaging |
Het |
| Lrp8 |
G |
T |
4: 107,704,656 (GRCm39) |
R292L |
possibly damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,091,806 (GRCm39) |
D511V |
probably benign |
Het |
| Mapk8 |
A |
G |
14: 33,112,250 (GRCm39) |
C213R |
probably damaging |
Het |
| Mcph1 |
C |
T |
8: 18,682,015 (GRCm39) |
P384L |
probably benign |
Het |
| Mrps7 |
T |
C |
11: 115,495,713 (GRCm39) |
S84P |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,975,821 (GRCm39) |
I409N |
probably damaging |
Het |
| Or1p1c |
T |
C |
11: 74,161,088 (GRCm39) |
I291T |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,800,004 (GRCm39) |
G2975R |
probably benign |
Het |
| Ppip5k1 |
T |
C |
2: 121,167,591 (GRCm39) |
D17G |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,256,174 (GRCm39) |
Y1182N |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,427,699 (GRCm39) |
N722S |
probably benign |
Het |
| Rcc1l |
A |
G |
5: 134,198,167 (GRCm39) |
V155A |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,430,821 (GRCm39) |
E1080G |
unknown |
Het |
| Sacs |
A |
T |
14: 61,441,985 (GRCm39) |
K1344* |
probably null |
Het |
| Sec16a |
C |
T |
2: 26,313,954 (GRCm39) |
E1884K |
probably damaging |
Het |
| Secisbp2 |
C |
A |
13: 51,833,813 (GRCm39) |
T651K |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,291,100 (GRCm39) |
D620G |
probably benign |
Het |
| Slc6a17 |
A |
G |
3: 107,379,387 (GRCm39) |
S553P |
possibly damaging |
Het |
| Smpd5 |
C |
A |
15: 76,179,092 (GRCm39) |
N153K |
probably damaging |
Het |
| Ube2d4 |
T |
A |
15: 58,718,992 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13c |
A |
G |
9: 67,818,884 (GRCm39) |
I1102V |
probably damaging |
Het |
| Wdr36 |
C |
A |
18: 32,979,998 (GRCm39) |
S241Y |
probably damaging |
Het |
| Wdr7 |
T |
A |
18: 63,872,348 (GRCm39) |
D427E |
probably damaging |
Het |
| Zfp945 |
G |
A |
17: 23,070,432 (GRCm39) |
P489L |
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 |
|
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'- TTGGAAATGCCCGGGAATGC -3'
(R):5'- CCGTGGCATATTCTGTTGCTAG -3'
Sequencing Primer
(F):5'- TGCAGGGAAATGTACAGTGTC -3'
(R):5'- GGCATATTCTGTTGCTAGGCATTTCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation