Incidental Mutation 'R4278:Hhatl'
ID |
322770 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hhatl
|
Ensembl Gene |
ENSMUSG00000032523 |
Gene Name |
hedgehog acyltransferase-like |
Synonyms |
Mg56, Mitsugumin 56, Gup1, 1110011D13Rik |
MMRRC Submission |
068968-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4278 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
121613082-121621573 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 121613285 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 470
(A470V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000098272]
[ENSMUST00000163981]
|
AlphaFold |
Q9D1G3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035110
AA Change: A470V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035110 Gene: ENSMUSG00000032523 AA Change: A470V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
63 |
448 |
2.7e-15 |
PFAM |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098272
|
SMART Domains |
Protein: ENSMUSP00000095873 Gene: ENSMUSG00000074001
Domain | Start | End | E-Value | Type |
BTB
|
33 |
128 |
4.61e-29 |
SMART |
BACK
|
133 |
239 |
9.46e-30 |
SMART |
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
Blast:BTB
|
300 |
355 |
2e-27 |
BLAST |
Kelch
|
360 |
412 |
1.77e0 |
SMART |
Kelch
|
413 |
462 |
1.29e-2 |
SMART |
Kelch
|
463 |
510 |
4.68e-9 |
SMART |
Kelch
|
511 |
557 |
2.06e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163981
AA Change: A470V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131971 Gene: ENSMUSG00000032523 AA Change: A470V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
97 |
444 |
3.7e-16 |
PFAM |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anln |
A |
G |
9: 22,245,296 (GRCm39) |
|
probably null |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Bltp3b |
T |
G |
10: 89,642,571 (GRCm39) |
|
probably null |
Het |
Capza3 |
T |
A |
6: 139,987,786 (GRCm39) |
Y128* |
probably null |
Het |
Ccdc187 |
T |
A |
2: 26,172,239 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,209,667 (GRCm39) |
R119G |
probably damaging |
Het |
Espn |
T |
C |
4: 152,218,874 (GRCm39) |
D308G |
probably damaging |
Het |
Gm9857 |
T |
C |
3: 108,847,419 (GRCm39) |
|
probably benign |
Het |
Igfals |
A |
T |
17: 25,100,191 (GRCm39) |
E427D |
probably benign |
Het |
Il22ra1 |
C |
T |
4: 135,478,024 (GRCm39) |
A365V |
possibly damaging |
Het |
Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,098,512 (GRCm39) |
M1864L |
probably null |
Het |
Mbd5 |
T |
G |
2: 49,162,305 (GRCm39) |
I37S |
probably damaging |
Het |
Nsf |
C |
A |
11: 103,821,632 (GRCm39) |
A5S |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
Or9q1 |
A |
G |
19: 13,805,793 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
C |
T |
11: 71,965,342 (GRCm39) |
V164I |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,532,637 (GRCm39) |
K117R |
probably benign |
Het |
Ppp1r13b |
G |
T |
12: 111,796,818 (GRCm39) |
N908K |
probably damaging |
Het |
Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
Rhbdd3 |
C |
T |
11: 5,055,329 (GRCm39) |
T226I |
probably benign |
Het |
Slc27a3 |
C |
T |
3: 90,296,495 (GRCm39) |
|
probably benign |
Het |
Slc30a2 |
G |
A |
4: 134,073,360 (GRCm39) |
E136K |
probably null |
Het |
Sptlc2 |
A |
C |
12: 87,382,925 (GRCm39) |
I393R |
probably benign |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r80 |
G |
T |
7: 11,927,454 (GRCm39) |
C188F |
probably benign |
Het |
Vwa2 |
C |
A |
19: 56,891,915 (GRCm39) |
Q283K |
probably benign |
Het |
Zfp52 |
A |
G |
17: 21,782,132 (GRCm39) |
K660R |
probably benign |
Het |
|
Other mutations in Hhatl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02948:Hhatl
|
APN |
9 |
121,618,857 (GRCm39) |
missense |
probably benign |
0.21 |
R0270:Hhatl
|
UTSW |
9 |
121,613,786 (GRCm39) |
missense |
probably benign |
0.14 |
R0399:Hhatl
|
UTSW |
9 |
121,617,828 (GRCm39) |
missense |
probably benign |
0.00 |
R0417:Hhatl
|
UTSW |
9 |
121,617,828 (GRCm39) |
missense |
probably benign |
0.00 |
R0436:Hhatl
|
UTSW |
9 |
121,617,828 (GRCm39) |
missense |
probably benign |
0.00 |
R1741:Hhatl
|
UTSW |
9 |
121,618,125 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2250:Hhatl
|
UTSW |
9 |
121,617,237 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2284:Hhatl
|
UTSW |
9 |
121,618,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R2513:Hhatl
|
UTSW |
9 |
121,618,236 (GRCm39) |
missense |
probably benign |
0.13 |
R4717:Hhatl
|
UTSW |
9 |
121,618,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R4851:Hhatl
|
UTSW |
9 |
121,618,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R5759:Hhatl
|
UTSW |
9 |
121,617,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R6330:Hhatl
|
UTSW |
9 |
121,617,291 (GRCm39) |
splice site |
probably null |
|
R6387:Hhatl
|
UTSW |
9 |
121,619,467 (GRCm39) |
missense |
probably benign |
0.09 |
R6460:Hhatl
|
UTSW |
9 |
121,618,588 (GRCm39) |
missense |
probably benign |
0.32 |
R6541:Hhatl
|
UTSW |
9 |
121,614,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6651:Hhatl
|
UTSW |
9 |
121,613,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R6670:Hhatl
|
UTSW |
9 |
121,618,137 (GRCm39) |
missense |
probably damaging |
0.96 |
R6914:Hhatl
|
UTSW |
9 |
121,617,246 (GRCm39) |
missense |
probably benign |
|
R6942:Hhatl
|
UTSW |
9 |
121,617,246 (GRCm39) |
missense |
probably benign |
|
R7026:Hhatl
|
UTSW |
9 |
121,617,339 (GRCm39) |
missense |
probably benign |
0.26 |
R7251:Hhatl
|
UTSW |
9 |
121,614,116 (GRCm39) |
critical splice donor site |
probably null |
|
R7323:Hhatl
|
UTSW |
9 |
121,618,652 (GRCm39) |
missense |
probably benign |
|
R7958:Hhatl
|
UTSW |
9 |
121,613,652 (GRCm39) |
critical splice donor site |
probably null |
|
R8365:Hhatl
|
UTSW |
9 |
121,618,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R8425:Hhatl
|
UTSW |
9 |
121,618,168 (GRCm39) |
missense |
probably benign |
0.30 |
R8771:Hhatl
|
UTSW |
9 |
121,617,776 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8797:Hhatl
|
UTSW |
9 |
121,619,965 (GRCm39) |
intron |
probably benign |
|
R9339:Hhatl
|
UTSW |
9 |
121,618,862 (GRCm39) |
missense |
probably benign |
0.01 |
R9370:Hhatl
|
UTSW |
9 |
121,617,836 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9546:Hhatl
|
UTSW |
9 |
121,618,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Hhatl
|
UTSW |
9 |
121,618,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Hhatl
|
UTSW |
9 |
121,613,282 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9617:Hhatl
|
UTSW |
9 |
121,618,191 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTATTGGTCAGGCTCCGTG -3'
(R):5'- GGATCTACCTAACACACGGG -3'
Sequencing Primer
(F):5'- CCAGAAGCAGCTGAGCAGA -3'
(R):5'- TCCAAGGGACTCAGCAGG -3'
|
Posted On |
2015-06-20 |