Incidental Mutation 'R6744:Nceh1'
ID |
532768 |
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 |
044861-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6744 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
27237153-27299112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27295938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 400
(Y400H)
|
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: Y400H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045864 Gene: ENSMUSG00000027698 AA Change: Y400H
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 |
|
Meta Mutation Damage Score |
0.3990 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
A |
10: 20,841,466 (GRCm39) |
L251H |
probably damaging |
Het |
Alk |
A |
T |
17: 72,910,077 (GRCm39) |
S210T |
probably benign |
Het |
Arap2 |
A |
G |
5: 62,906,281 (GRCm39) |
F246S |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,024,858 (GRCm39) |
N1749K |
probably benign |
Het |
C87436 |
T |
A |
6: 86,423,046 (GRCm39) |
S207T |
probably damaging |
Het |
C8b |
C |
T |
4: 104,631,543 (GRCm39) |
R53W |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,409,244 (GRCm39) |
V619A |
probably benign |
Het |
Cdc73 |
G |
A |
1: 143,577,887 (GRCm39) |
|
probably benign |
Het |
Cdh4 |
C |
A |
2: 179,489,180 (GRCm39) |
H297Q |
possibly damaging |
Het |
Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,816,207 (GRCm39) |
N1328S |
probably damaging |
Het |
Ctnnb1 |
T |
A |
9: 120,782,025 (GRCm39) |
V346E |
probably damaging |
Het |
Ctns |
C |
T |
11: 73,076,111 (GRCm39) |
G308E |
probably damaging |
Het |
Cxxc4 |
AGGCGGCGGCGGCGGCGGCGGCGGC |
AGGCGGCGGCGGCGGCGGCGGCGGCGGC |
3: 133,945,891 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,014,532 (GRCm39) |
I3685T |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,742,770 (GRCm39) |
H775R |
probably damaging |
Het |
Eef1ece2 |
A |
T |
16: 20,449,116 (GRCm39) |
K165N |
probably damaging |
Het |
Fbxl3 |
A |
T |
14: 103,320,730 (GRCm39) |
V239D |
probably damaging |
Het |
Gh |
T |
A |
11: 106,192,230 (GRCm39) |
K55* |
probably null |
Het |
Havcr2 |
T |
G |
11: 46,345,887 (GRCm39) |
|
probably null |
Het |
Kcnq2 |
T |
A |
2: 180,727,099 (GRCm39) |
H576L |
possibly damaging |
Het |
Kifap3 |
A |
G |
1: 163,676,239 (GRCm39) |
N398S |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Mblac1 |
A |
G |
5: 138,192,682 (GRCm39) |
E8G |
possibly damaging |
Het |
Mtor |
C |
T |
4: 148,543,112 (GRCm39) |
T290I |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,376,703 (GRCm39) |
V226A |
probably benign |
Het |
Or10a3 |
T |
C |
7: 108,480,037 (GRCm39) |
T259A |
probably damaging |
Het |
Or10al3 |
T |
A |
17: 38,012,336 (GRCm39) |
Y258* |
probably null |
Het |
Or2d4 |
A |
G |
7: 106,543,741 (GRCm39) |
S156P |
probably damaging |
Het |
Otud4 |
C |
A |
8: 80,400,407 (GRCm39) |
Y1039* |
probably null |
Het |
Pax4 |
T |
C |
6: 28,442,396 (GRCm39) |
H331R |
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,165,960 (GRCm39) |
Y2090* |
probably null |
Het |
Ppp1r12a |
T |
A |
10: 108,066,395 (GRCm39) |
H195Q |
probably damaging |
Het |
Ppp6r2 |
A |
G |
15: 89,140,864 (GRCm39) |
|
probably null |
Het |
Prodh |
A |
G |
16: 17,897,064 (GRCm39) |
V23A |
probably benign |
Het |
Psg20 |
G |
A |
7: 18,408,505 (GRCm39) |
T405I |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,093,562 (GRCm39) |
D360G |
probably benign |
Het |
Qrfprl |
T |
A |
6: 65,418,324 (GRCm39) |
M164K |
possibly damaging |
Het |
Rad18 |
A |
T |
6: 112,652,745 (GRCm39) |
M284K |
probably damaging |
Het |
Rgs17 |
T |
C |
10: 5,792,567 (GRCm39) |
K60E |
possibly damaging |
Het |
Sec31a |
G |
T |
5: 100,540,358 (GRCm39) |
Q39K |
possibly damaging |
Het |
Slc22a22 |
G |
T |
15: 57,117,668 (GRCm39) |
T291K |
possibly damaging |
Het |
Sult2a6 |
C |
T |
7: 13,956,470 (GRCm39) |
E264K |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,121,221 (GRCm39) |
R5896C |
probably damaging |
Het |
Tctn1 |
A |
T |
5: 122,402,209 (GRCm39) |
V75D |
probably damaging |
Het |
Tmem214 |
A |
G |
5: 31,031,372 (GRCm39) |
K409E |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,853,301 (GRCm39) |
Y553C |
probably damaging |
Het |
Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
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 |
R6729:Nceh1
|
UTSW |
3 |
27,295,420 (GRCm39) |
nonsense |
probably null |
|
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'- ACATCCTTACCTGCGAGCAC -3'
(R):5'- CGCGTTAGTCAGAGTCACTTTG -3'
Sequencing Primer
(F):5'- TTACCTGCGAGCACGACGTC -3'
(R):5'- GGGTACAGATTTCAGTACTAATGC -3'
|
Posted On |
2018-08-29 |