Incidental Mutation 'R5598:Nceh1'
| ID |
437912 |
| 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 |
043150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27237153-27299112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27280248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 132
(T132A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046515]
[ENSMUST00000091284]
[ENSMUST00000138947]
|
| AlphaFold |
Q8BLF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046515
AA Change: T132A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045864
Gene: ENSMUSG00000027698
AA Change: T132A
| 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
AA Change: T132A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000088829
Gene: ENSMUSG00000027698
AA Change: T132A
| 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: ENSMUST00000129412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138947
|
| SMART Domains |
Protein: ENSMUSP00000115209
Gene: ENSMUSG00000027698
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140872
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,025,645 (GRCm39) |
D550G |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,839,228 (GRCm39) |
T457A |
probably damaging |
Het |
| Ano8 |
A |
G |
8: 71,935,221 (GRCm39) |
V359A |
probably damaging |
Het |
| Aqp2 |
G |
T |
15: 99,476,993 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
C |
T |
16: 29,075,829 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
ACCCCC |
ACCCCCCCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
| Ccr1l1 |
A |
G |
9: 123,778,030 (GRCm39) |
V139A |
probably benign |
Het |
| Cecr2 |
A |
G |
6: 120,708,407 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,310,119 (GRCm39) |
V1537A |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,856,032 (GRCm39) |
K741N |
probably damaging |
Het |
| Chrna1 |
T |
A |
2: 73,397,075 (GRCm39) |
T405S |
probably benign |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Cmss1 |
C |
A |
16: 57,131,649 (GRCm39) |
C159F |
probably damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,916 (GRCm39) |
|
probably benign |
Het |
| Cradd |
G |
T |
10: 95,011,666 (GRCm39) |
S158* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 49,997,545 (GRCm39) |
A578T |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,318,315 (GRCm39) |
N419S |
possibly damaging |
Het |
| E4f1 |
T |
C |
17: 24,666,103 (GRCm39) |
T232A |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,171,956 (GRCm39) |
E2919V |
probably damaging |
Het |
| Gc |
T |
C |
5: 89,586,309 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,249,143 (GRCm39) |
V173I |
probably benign |
Het |
| Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,799,015 (GRCm39) |
P729S |
possibly damaging |
Het |
| Lgi1 |
A |
G |
19: 38,294,629 (GRCm39) |
D467G |
possibly damaging |
Het |
| Loxl1 |
A |
G |
9: 58,219,650 (GRCm39) |
Y174H |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,475,592 (GRCm39) |
I824N |
probably damaging |
Het |
| Myrf |
C |
T |
19: 10,192,654 (GRCm39) |
E622K |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,457,051 (GRCm39) |
Y416H |
probably damaging |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,466 (GRCm39) |
P94S |
probably damaging |
Het |
| Or2v1 |
C |
G |
11: 49,025,941 (GRCm39) |
D307E |
probably benign |
Het |
| Or52s1b |
A |
T |
7: 102,822,841 (GRCm39) |
M1K |
probably null |
Het |
| Or8b1 |
A |
T |
9: 38,399,821 (GRCm39) |
R165S |
possibly damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,476 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pdia3 |
C |
A |
2: 121,244,611 (GRCm39) |
T8K |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,771,820 (GRCm39) |
V304E |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,068,007 (GRCm39) |
S835G |
possibly damaging |
Het |
| Susd4 |
T |
C |
1: 182,719,635 (GRCm39) |
S417P |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 129,523,578 (GRCm39) |
R127H |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,781,216 (GRCm39) |
D460G |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,826,234 (GRCm39) |
M148K |
probably damaging |
Het |
| Ubn2 |
G |
A |
6: 38,467,323 (GRCm39) |
C677Y |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,161 (GRCm39) |
I721T |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,855,454 (GRCm39) |
C720F |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,807,347 (GRCm39) |
D2742N |
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 |
|
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'- GAACCCCTGATCCTTGTACC -3'
(R):5'- CACATCTGTAATTCCAACATTTGATGG -3'
Sequencing Primer
(F):5'- CTCCTGAGATCAGAAGCAAGGGC -3'
(R):5'- TTGGGCAGCTTACAAATACCTGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation