Incidental Mutation 'R6387:Hhatl'
| ID |
514662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhatl
|
| Ensembl Gene |
ENSMUSG00000032523 |
| Gene Name |
hedgehog acyltransferase-like |
| Synonyms |
Mg56, Mitsugumin 56, Gup1, 1110011D13Rik |
| MMRRC Submission |
044536-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6387 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121613082-121621573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121619467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 39
(H39L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000163981]
[ENSMUST00000214768]
[ENSMUST00000215477]
[ENSMUST00000215910]
[ENSMUST00000217652]
|
| AlphaFold |
Q9D1G3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035110
AA Change: H39L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: H39L
| 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: ENSMUST00000163981
AA Change: H39L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: H39L
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214768
AA Change: H39L
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215477
AA Change: H39L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215910
AA Change: H39L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217652
|
| Meta Mutation Damage Score |
0.1346 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
C |
5: 109,884,881 (GRCm39) |
K326E |
possibly damaging |
Het |
| Acot1 |
A |
G |
12: 84,056,627 (GRCm39) |
D115G |
probably benign |
Het |
| Adm |
T |
C |
7: 110,227,502 (GRCm39) |
I6T |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,844,942 (GRCm39) |
Y349C |
probably damaging |
Het |
| Aldh1a1 |
A |
G |
19: 20,595,323 (GRCm39) |
E84G |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,967,081 (GRCm39) |
D520G |
probably damaging |
Het |
| Ano4 |
A |
T |
10: 88,807,267 (GRCm39) |
Y736* |
probably null |
Het |
| Atp6v1a |
A |
G |
16: 43,907,806 (GRCm39) |
F612S |
possibly damaging |
Het |
| Bltp3b |
C |
T |
10: 89,638,919 (GRCm39) |
Q442* |
probably null |
Het |
| Calcb |
G |
A |
7: 114,319,025 (GRCm39) |
V17I |
possibly damaging |
Het |
| Cfap70 |
C |
T |
14: 20,498,643 (GRCm39) |
V15M |
probably damaging |
Het |
| Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
| Csgalnact1 |
C |
T |
8: 68,811,365 (GRCm39) |
G435D |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,281 (GRCm39) |
M487K |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,037,934 (GRCm39) |
E3862G |
probably damaging |
Het |
| Gdf10 |
T |
A |
14: 33,645,961 (GRCm39) |
S37T |
probably benign |
Het |
| Icam4 |
A |
C |
9: 20,941,505 (GRCm39) |
S215R |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,280 (GRCm39) |
E108G |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,744,920 (GRCm39) |
I416T |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,959,504 (GRCm39) |
*577L |
probably null |
Het |
| Mark2 |
A |
G |
19: 7,263,267 (GRCm39) |
F167L |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,299,946 (GRCm39) |
T351A |
possibly damaging |
Het |
| Mrps27 |
A |
G |
13: 99,536,825 (GRCm39) |
I113V |
possibly damaging |
Het |
| Numbl |
C |
T |
7: 26,976,115 (GRCm39) |
T265I |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,468,006 (GRCm39) |
A1296T |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,912,148 (GRCm39) |
I125T |
probably damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,385 (GRCm39) |
I505V |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,891,291 (GRCm39) |
F269L |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,516,679 (GRCm39) |
V1018I |
probably benign |
Het |
| Prl4a1 |
T |
A |
13: 28,202,482 (GRCm39) |
V19E |
possibly damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,792,702 (GRCm39) |
D327G |
probably benign |
Het |
| Smad3 |
G |
T |
9: 63,562,047 (GRCm39) |
D310E |
probably benign |
Het |
| Sparcl1 |
T |
A |
5: 104,232,926 (GRCm39) |
D625V |
probably damaging |
Het |
| Spta1 |
G |
A |
1: 174,058,899 (GRCm39) |
A1945T |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sympk |
T |
C |
7: 18,786,423 (GRCm39) |
Y1009H |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,752,825 (GRCm39) |
F1026L |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,365,554 (GRCm39) |
K144* |
probably null |
Het |
| Unk |
A |
G |
11: 115,945,766 (GRCm39) |
N479S |
possibly damaging |
Het |
| Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
| Zfp993 |
A |
G |
4: 146,741,975 (GRCm39) |
T100A |
probably damaging |
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 |
|
R4278:Hhatl
|
UTSW |
9 |
121,613,285 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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'- GCGGTCTAGCTTGTACAAAATG -3'
(R):5'- ACCAACAGGCCAGAATCTTGG -3'
Sequencing Primer
(F):5'- GTCTAGCTTGTACAAAATGAGCCG -3'
(R):5'- AATCTTGGAGGCTGCAGACC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation