Incidental Mutation 'IGL02578:Hhat'
| ID |
299277 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hhat
|
| Ensembl Gene |
ENSMUSG00000037375 |
| Gene Name |
hedgehog acyltransferase |
| Synonyms |
Skn, 2810432O22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
192195133-192453546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 192376221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 304
(V304A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044190]
[ENSMUST00000128619]
[ENSMUST00000192585]
|
| AlphaFold |
Q8BMT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044190
AA Change: V304A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046686
Gene: ENSMUSG00000037375
AA Change: V304A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
71 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
125 |
448 |
5.7e-51 |
PFAM |
|
transmembrane domain
|
466 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128619
AA Change: V304A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375
AA Change: V304A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
71 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
125 |
448 |
3.1e-60 |
PFAM |
|
transmembrane domain
|
475 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154755
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192585
AA Change: V304A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141575
Gene: ENSMUSG00000037375
AA Change: V304A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
71 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
125 |
448 |
2.4e-51 |
PFAM |
|
transmembrane domain
|
475 |
497 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]
PHENOTYPE: Homozygous null mice display neonatal lethality, holoprosencephaly, short-limb dwarfism, and oligodactyly. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,023,179 (GRCm39) |
|
probably null |
Het |
| Ago1 |
T |
A |
4: 126,333,324 (GRCm39) |
D545V |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,270,116 (GRCm39) |
S1410P |
probably benign |
Het |
| Cbfa2t3 |
T |
A |
8: 123,360,187 (GRCm39) |
D488V |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,240,094 (GRCm39) |
D194G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,466,939 (GRCm39) |
Q208R |
possibly damaging |
Het |
| Degs1 |
A |
C |
1: 182,106,592 (GRCm39) |
Y222* |
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,472,074 (GRCm39) |
E3564D |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,250 (GRCm39) |
I906F |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,123,132 (GRCm39) |
H236R |
possibly damaging |
Het |
| Foxp2 |
A |
G |
6: 15,376,814 (GRCm39) |
|
probably benign |
Het |
| Gm9892 |
A |
T |
8: 52,649,328 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
A |
G |
7: 55,756,283 (GRCm39) |
|
probably null |
Het |
| Il16 |
C |
T |
7: 83,327,194 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
G |
A |
1: 66,840,848 (GRCm39) |
Q151* |
probably null |
Het |
| Kmt2c |
G |
T |
5: 25,571,198 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,412,032 (GRCm39) |
N18S |
probably benign |
Het |
| Lcor |
G |
T |
19: 41,547,589 (GRCm39) |
G391V |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 111,950,580 (GRCm39) |
T845S |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,911,667 (GRCm39) |
A230V |
probably benign |
Het |
| Myh2 |
T |
A |
11: 67,077,517 (GRCm39) |
M884K |
probably benign |
Het |
| Nlrp3 |
T |
C |
11: 59,439,227 (GRCm39) |
L268P |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,710 (GRCm39) |
T39S |
probably benign |
Het |
| Or10ag58 |
T |
A |
2: 87,265,401 (GRCm39) |
I190K |
probably damaging |
Het |
| Or1j14 |
A |
C |
2: 36,418,156 (GRCm39) |
H244P |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,993,073 (GRCm39) |
Y73* |
probably null |
Het |
| Pde4b |
T |
A |
4: 102,112,494 (GRCm39) |
M26K |
possibly damaging |
Het |
| Polh |
G |
A |
17: 46,505,218 (GRCm39) |
Q133* |
probably null |
Het |
| Postn |
A |
T |
3: 54,284,625 (GRCm39) |
N647I |
possibly damaging |
Het |
| Scimp |
T |
A |
11: 70,682,387 (GRCm39) |
I110F |
possibly damaging |
Het |
| Sell |
A |
G |
1: 163,893,165 (GRCm39) |
D127G |
probably damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,883,220 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,739,373 (GRCm39) |
E188G |
probably damaging |
Het |
| Shisal2a |
C |
T |
4: 108,225,225 (GRCm39) |
M112I |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,886,126 (GRCm39) |
Y169C |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,923,957 (GRCm39) |
T57I |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,745 (GRCm39) |
M61L |
probably benign |
Het |
| Sra1 |
G |
A |
18: 36,803,150 (GRCm39) |
Q32* |
probably null |
Het |
| Syne2 |
T |
A |
12: 76,069,053 (GRCm39) |
S4340T |
possibly damaging |
Het |
| Ucn |
A |
C |
5: 31,295,738 (GRCm39) |
W43G |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,213,241 (GRCm39) |
M836I |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,591 (GRCm39) |
D1277E |
probably damaging |
Het |
|
| Other mutations in Hhat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Hhat
|
APN |
1 |
192,399,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Hhat
|
UTSW |
1 |
192,235,242 (GRCm39) |
splice site |
probably null |
|
|
R0842:Hhat
|
UTSW |
1 |
192,408,639 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1794:Hhat
|
UTSW |
1 |
192,376,214 (GRCm39) |
nonsense |
probably null |
|
|
R1978:Hhat
|
UTSW |
1 |
192,399,415 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2073:Hhat
|
UTSW |
1 |
192,409,687 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2571:Hhat
|
UTSW |
1 |
192,235,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2891:Hhat
|
UTSW |
1 |
192,277,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Hhat
|
UTSW |
1 |
192,277,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Hhat
|
UTSW |
1 |
192,369,287 (GRCm39) |
intron |
probably benign |
|
|
R4988:Hhat
|
UTSW |
1 |
192,339,602 (GRCm39) |
intron |
probably benign |
|
|
R5002:Hhat
|
UTSW |
1 |
192,225,498 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5018:Hhat
|
UTSW |
1 |
192,277,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Hhat
|
UTSW |
1 |
192,409,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Hhat
|
UTSW |
1 |
192,399,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6151:Hhat
|
UTSW |
1 |
192,442,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Hhat
|
UTSW |
1 |
192,277,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Hhat
|
UTSW |
1 |
192,376,134 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7079:Hhat
|
UTSW |
1 |
192,235,354 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7534:Hhat
|
UTSW |
1 |
192,408,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Hhat
|
UTSW |
1 |
192,196,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Hhat
|
UTSW |
1 |
192,277,203 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8975:Hhat
|
UTSW |
1 |
192,431,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hhat
|
UTSW |
1 |
192,343,800 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation