Incidental Mutation 'R5002:Hhat'
ID |
389981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hhat
|
Ensembl Gene |
ENSMUSG00000037375 |
Gene Name |
hedgehog acyltransferase |
Synonyms |
Skn, 2810432O22Rik |
MMRRC Submission |
042596-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5002 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
192195133-192453546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 192225498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 494
(F494I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044190]
[ENSMUST00000128619]
[ENSMUST00000192585]
|
AlphaFold |
Q8BMT9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044190
|
SMART Domains |
Protein: ENSMUSP00000046686 Gene: ENSMUSG00000037375
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 benign
Transcript: ENSMUST00000128619
|
SMART Domains |
Protein: ENSMUSP00000120479 Gene: ENSMUSG00000037375
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 |
probably benign
Transcript: ENSMUST00000192585
AA Change: F494I
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141575 Gene: ENSMUSG00000037375 AA Change: F494I
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
94% (44/47) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
Casq1 |
T |
A |
1: 172,040,945 (GRCm39) |
D281V |
possibly damaging |
Het |
Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,085,656 (GRCm39) |
I281T |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
Nfil3 |
C |
A |
13: 53,122,712 (GRCm39) |
R64L |
probably damaging |
Het |
Ociad1 |
T |
C |
5: 73,467,659 (GRCm39) |
V199A |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
Stk11ip |
C |
A |
1: 75,509,187 (GRCm39) |
|
probably benign |
Het |
Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
Tesk1 |
T |
C |
4: 43,444,573 (GRCm39) |
Y126H |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
Het |
Zpld2 |
T |
A |
4: 133,924,231 (GRCm39) |
N438I |
probably benign |
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 |
IGL02578:Hhat
|
APN |
1 |
192,376,221 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGACCTAACACTTCCGACATCTTG -3'
(R):5'- TACATGGATCCCTTGTTCAGC -3'
Sequencing Primer
(F):5'- ACATCTTGTTGGGCACAGC -3'
(R):5'- TGTTCAGCTTTCATCATCTTGAG -3'
|
Posted On |
2016-06-06 |