Incidental Mutation 'R9662:Hmgcll1'
ID |
727632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmgcll1
|
Ensembl Gene |
ENSMUSG00000007908 |
Gene Name |
3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R9662 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
75922137-76043632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75922397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 14
(Y14F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008052
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008052]
[ENSMUST00000117981]
[ENSMUST00000183425]
[ENSMUST00000183979]
|
AlphaFold |
Q8JZS7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008052
AA Change: Y14F
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000008052 Gene: ENSMUSG00000007908 AA Change: Y14F
Domain | Start | End | E-Value | Type |
Pfam:HMGL-like
|
47 |
321 |
2.2e-67 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117981
AA Change: Y14F
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000114045 Gene: ENSMUSG00000007908 AA Change: Y14F
Domain | Start | End | E-Value | Type |
Pfam:HMGL-like
|
56 |
104 |
1e-10 |
PFAM |
Pfam:HMGL-like
|
99 |
183 |
2e-8 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183425
AA Change: Y14F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000139094 Gene: ENSMUSG00000007908 AA Change: Y14F
Domain | Start | End | E-Value | Type |
Pfam:HMGL-like
|
56 |
101 |
8.5e-11 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183979
AA Change: Y14F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138914 Gene: ENSMUSG00000007908 AA Change: Y14F
Domain | Start | End | E-Value | Type |
Pfam:HMGL-like
|
56 |
104 |
6.4e-11 |
PFAM |
Pfam:HMGL-like
|
98 |
201 |
1.6e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(4)
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
T |
A |
6: 34,809,468 (GRCm39) |
Y698* |
probably null |
Het |
Arhgef28 |
C |
A |
13: 98,065,969 (GRCm39) |
G1628V |
probably benign |
Het |
Bcr |
T |
C |
10: 75,011,152 (GRCm39) |
V1018A |
probably benign |
Het |
Cadps |
T |
A |
14: 12,411,567 (GRCm38) |
E1263V |
probably benign |
Het |
Cdc14a |
T |
A |
3: 116,088,484 (GRCm39) |
K446M |
probably damaging |
Het |
Celf6 |
C |
T |
9: 59,485,668 (GRCm39) |
A3V |
unknown |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Col1a1 |
A |
G |
11: 94,836,667 (GRCm39) |
S709G |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,925,166 (GRCm39) |
L3889H |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,343,763 (GRCm39) |
T2849A |
probably benign |
Het |
Exog |
A |
G |
9: 119,281,376 (GRCm39) |
R229G |
probably benign |
Het |
Fnbp1 |
T |
A |
2: 30,986,042 (GRCm39) |
K114N |
probably damaging |
Het |
Gm21149 |
A |
T |
5: 15,681,357 (GRCm39) |
N35K |
probably damaging |
Het |
Gm7324 |
A |
T |
14: 43,952,434 (GRCm39) |
D359V |
unknown |
Het |
Grin3a |
A |
T |
4: 49,792,432 (GRCm39) |
S434T |
possibly damaging |
Het |
H2-Q6 |
C |
T |
17: 35,644,185 (GRCm39) |
R56C |
probably damaging |
Het |
Kcna6 |
T |
G |
6: 126,715,380 (GRCm39) |
E503A |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,731,428 (GRCm39) |
V2963A |
unknown |
Het |
Ltk |
G |
T |
2: 119,582,330 (GRCm39) |
S807* |
probably null |
Het |
Mars1 |
A |
G |
10: 127,136,349 (GRCm39) |
L492P |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Myo7a |
T |
A |
7: 97,747,499 (GRCm39) |
Y111F |
possibly damaging |
Het |
Ndst3 |
T |
A |
3: 123,465,115 (GRCm39) |
I286L |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Parg |
T |
C |
14: 31,971,976 (GRCm39) |
L657S |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,174,054 (GRCm39) |
T356A |
probably benign |
Het |
Ppp3ca |
T |
C |
3: 136,583,501 (GRCm39) |
S203P |
probably damaging |
Het |
Raver1 |
C |
T |
9: 20,992,550 (GRCm39) |
R293H |
probably benign |
Het |
Robo2 |
C |
T |
16: 73,758,566 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
G |
A |
5: 113,427,097 (GRCm39) |
P398L |
probably benign |
Het |
Slc6a19 |
A |
T |
13: 73,839,822 (GRCm39) |
C153* |
probably null |
Het |
Tbx1 |
T |
C |
16: 18,400,882 (GRCm39) |
H434R |
unknown |
Het |
Tmem151a |
C |
A |
19: 5,132,717 (GRCm39) |
R163L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,671,604 (GRCm39) |
V11320A |
unknown |
Het |
Zfp207 |
G |
A |
11: 80,286,029 (GRCm39) |
M423I |
unknown |
Het |
Zfp251 |
A |
T |
15: 76,737,520 (GRCm39) |
H524Q |
possibly damaging |
Het |
Zfp318 |
C |
T |
17: 46,724,383 (GRCm39) |
R2129W |
probably damaging |
Het |
Zfp763 |
T |
A |
17: 33,240,787 (GRCm39) |
D14V |
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 |
P0005:Hmgcll1
|
UTSW |
9 |
75,982,041 (GRCm39) |
missense |
possibly damaging |
0.90 |
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 |
X0054:Hmgcll1
|
UTSW |
9 |
76,037,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAACTGTCCCCATCCAGGATC -3'
(R):5'- ACAATAGAACGGGCCTCAGG -3'
Sequencing Primer
(F):5'- AGGATCTGGCTCTCAGCG -3'
(R):5'- GCTTACAGAGGTGACACAG -3'
|
Posted On |
2022-10-06 |