Incidental Mutation 'P0005:Hmgcll1'
| ID |
7598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmgcll1
|
| Ensembl Gene |
ENSMUSG00000007908 |
| Gene Name |
3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1 |
| Synonyms |
|
| MMRRC Submission |
038262-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
P0005 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
75922137-76043632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75982041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 162
(M162K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008052]
[ENSMUST00000117981]
[ENSMUST00000183425]
[ENSMUST00000183979]
|
| AlphaFold |
Q8JZS7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008052
AA Change: M162K
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000008052
Gene: ENSMUSG00000007908
AA Change: M162K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMGL-like
|
47 |
321 |
2.2e-67 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117981
AA Change: M130K
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114045
Gene: ENSMUSG00000007908
AA Change: M130K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMGL-like
|
56 |
104 |
1e-10 |
PFAM |
|
Pfam:HMGL-like
|
99 |
183 |
2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121592
|
| SMART Domains |
Protein: ENSMUSP00000113290
Gene: ENSMUSG00000007908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMGL-like
|
56 |
215 |
8.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183425
|
| SMART Domains |
Protein: ENSMUSP00000139094
Gene: ENSMUSG00000007908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMGL-like
|
56 |
101 |
8.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183505
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183979
|
| SMART Domains |
Protein: ENSMUSP00000138914
Gene: ENSMUSG00000007908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMGL-like
|
56 |
104 |
6.4e-11 |
PFAM |
|
Pfam:HMGL-like
|
98 |
201 |
1.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194758
|
| Meta Mutation Damage Score |
0.6478 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 80.5%
- 10x: 66.1%
- 20x: 49.6%
|
| Validation Efficiency |
95% (104/109) |
| Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(4)
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a1 |
T |
C |
8: 70,256,397 (GRCm39) |
V845A |
possibly damaging |
Het |
| Casp6 |
T |
C |
3: 129,705,792 (GRCm39) |
V153A |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,553,163 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
G |
1: 160,881,509 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,220,921 (GRCm39) |
|
probably null |
Het |
| Ift74 |
A |
G |
4: 94,550,813 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,358,218 (GRCm39) |
I595F |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,315,646 (GRCm39) |
M15K |
probably benign |
Het |
| Mmp17 |
T |
C |
5: 129,673,695 (GRCm39) |
V258A |
probably benign |
Het |
| Nek6 |
T |
C |
2: 38,459,749 (GRCm39) |
|
probably null |
Het |
| Nomo1 |
A |
T |
7: 45,686,981 (GRCm39) |
|
probably null |
Het |
| Nudt3 |
A |
G |
17: 27,815,689 (GRCm39) |
|
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,546,187 (GRCm39) |
L385P |
probably damaging |
Het |
| Prkg2 |
A |
C |
5: 99,117,806 (GRCm39) |
F512V |
probably damaging |
Het |
| Ptp4a3 |
T |
A |
15: 73,627,160 (GRCm39) |
D72E |
possibly damaging |
Het |
| Rpgrip1l |
A |
T |
8: 92,025,853 (GRCm39) |
|
probably benign |
Het |
| Rrp9 |
G |
A |
9: 106,358,376 (GRCm39) |
R101H |
probably benign |
Het |
| Slc7a6os |
T |
C |
8: 106,931,154 (GRCm39) |
I161V |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,060,896 (GRCm39) |
F109L |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,022,491 (GRCm39) |
Q1188R |
probably damaging |
Het |
|
| Other mutations in Hmgcll1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02151:Hmgcll1
|
APN |
9 |
75,988,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
mephistopheles
|
UTSW |
9 |
75,988,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1178:Hmgcll1
|
UTSW |
9 |
76,037,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Hmgcll1
|
UTSW |
9 |
75,979,943 (GRCm39) |
missense |
probably benign |
|
|
R4161:Hmgcll1
|
UTSW |
9 |
75,982,198 (GRCm39) |
intron |
probably benign |
|
|
R4843:Hmgcll1
|
UTSW |
9 |
75,979,916 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4896:Hmgcll1
|
UTSW |
9 |
75,963,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5614:Hmgcll1
|
UTSW |
9 |
75,988,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5702:Hmgcll1
|
UTSW |
9 |
75,991,672 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6272:Hmgcll1
|
UTSW |
9 |
76,037,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Hmgcll1
|
UTSW |
9 |
75,988,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7075:Hmgcll1
|
UTSW |
9 |
75,963,834 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8097:Hmgcll1
|
UTSW |
9 |
75,922,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8987:Hmgcll1
|
UTSW |
9 |
76,037,592 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9215:Hmgcll1
|
UTSW |
9 |
75,982,083 (GRCm39) |
missense |
probably benign |
|
|
R9228:Hmgcll1
|
UTSW |
9 |
75,991,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9662:Hmgcll1
|
UTSW |
9 |
75,922,397 (GRCm39) |
missense |
probably benign |
0.31 |
|
X0054:Hmgcll1
|
UTSW |
9 |
76,037,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-10-05 |
Incidental Mutation