Incidental Mutation 'R5255:Nceh1'
| ID |
399455 |
| 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 |
042826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R5255 (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 C
at 27237288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 21
(I21T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046515]
[ENSMUST00000091284]
[ENSMUST00000138947]
|
| AlphaFold |
Q8BLF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046515
AA Change: I21T
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045864
Gene: ENSMUSG00000027698
AA Change: I21T
| 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 damaging
Transcript: ENSMUST00000091284
AA Change: I21T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088829
Gene: ENSMUSG00000027698
AA Change: I21T
| 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 |
possibly damaging
Transcript: ENSMUST00000138947
AA Change: I21T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115209
Gene: ENSMUSG00000027698
AA Change: I21T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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 |
|---|
| Abcf1 |
A |
T |
17: 36,270,629 (GRCm39) |
|
probably null |
Het |
| Abr |
T |
A |
11: 76,346,509 (GRCm39) |
E434V |
probably damaging |
Het |
| Acaca |
T |
A |
11: 84,202,133 (GRCm39) |
L197Q |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,018 (GRCm39) |
I241T |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,075,312 (GRCm39) |
V182A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,812 (GRCm39) |
T1420I |
possibly damaging |
Het |
| Akr1c6 |
A |
T |
13: 4,497,018 (GRCm39) |
K153N |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,721,030 (GRCm39) |
L600P |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,624,447 (GRCm39) |
A824T |
probably damaging |
Het |
| B230307C23Rik |
T |
A |
16: 97,809,891 (GRCm39) |
N22K |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,324 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,404,824 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ces4a |
C |
A |
8: 105,869,121 (GRCm39) |
F185L |
probably benign |
Het |
| Clybl |
A |
C |
14: 122,621,691 (GRCm39) |
E293A |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,325,825 (GRCm39) |
W217R |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,086,945 (GRCm39) |
N677S |
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,803,908 (GRCm39) |
T390N |
possibly damaging |
Het |
| Drd5 |
T |
G |
5: 38,477,310 (GRCm39) |
V101G |
probably damaging |
Het |
| Elmo3 |
C |
T |
8: 106,033,985 (GRCm39) |
P244L |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,878,555 (GRCm39) |
R189H |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,667 (GRCm39) |
T183A |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,613 (GRCm39) |
H155R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,007,011 (GRCm39) |
|
probably null |
Het |
| Ints10 |
T |
C |
8: 69,246,624 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,667,209 (GRCm39) |
T413A |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,735 (GRCm39) |
V568A |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,997,419 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
G |
15: 78,294,708 (GRCm39) |
S147G |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,795,741 (GRCm39) |
Y559F |
possibly damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,523 (GRCm39) |
K183E |
probably benign |
Het |
| Phf8-ps |
A |
T |
17: 33,285,739 (GRCm39) |
C354* |
probably null |
Het |
| Ralgps1 |
A |
T |
2: 33,166,171 (GRCm39) |
V126E |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,359,823 (GRCm39) |
V115A |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,108,013 (GRCm39) |
V1554D |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,106,258 (GRCm39) |
D165E |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,501 (GRCm39) |
T23A |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc3a1 |
A |
T |
17: 85,335,881 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
T |
14: 110,987,185 (GRCm39) |
*841K |
probably null |
Het |
| Syngr1 |
A |
G |
15: 79,975,647 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,155,709 (GRCm39) |
D1343A |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,360,961 (GRCm39) |
I177N |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,320,881 (GRCm39) |
D76V |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,838,277 (GRCm39) |
I62N |
probably damaging |
Het |
| Zfp12 |
A |
T |
5: 143,226,134 (GRCm39) |
I68L |
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,771,719 (GRCm39) |
Y1551N |
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 |
|
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'- GCAGCTATTCGCAAGGACAC -3'
(R):5'- ACATCCTCAAAGGGCCCATG -3'
Sequencing Primer
(F):5'- ACGCAGCCTGTGATTGG -3'
(R):5'- TCGTTTAGAGGAGCAAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation