Incidental Mutation 'R9370:Hhatl'
| ID |
709272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhatl
|
| Ensembl Gene |
ENSMUSG00000032523 |
| Gene Name |
hedgehog acyltransferase-like |
| Synonyms |
Mg56, Mitsugumin 56, Gup1, 1110011D13Rik |
| MMRRC Submission |
068964-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9370 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121613082-121621573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121617836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 251
(G251E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000098272]
[ENSMUST00000163981]
[ENSMUST00000214768]
[ENSMUST00000215477]
[ENSMUST00000215910]
[ENSMUST00000217652]
|
| AlphaFold |
Q9D1G3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035110
AA Change: G251E
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: G251E
| 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 |
possibly damaging
Transcript: ENSMUST00000163981
AA Change: G251E
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: G251E
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215477
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215910
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217652
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1d1 |
T |
A |
6: 37,544,099 (GRCm39) |
*326R |
probably null |
Het |
| Cntn5 |
T |
A |
9: 9,833,520 (GRCm39) |
I344F |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Eln |
C |
T |
5: 134,741,476 (GRCm39) |
V563I |
unknown |
Het |
| Epb41l5 |
T |
C |
1: 119,561,312 (GRCm39) |
Y83C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,673,511 (GRCm39) |
D91G |
possibly damaging |
Het |
| Fscn3 |
T |
C |
6: 28,434,535 (GRCm39) |
V370A |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,131,940 (GRCm39) |
N1550S |
probably benign |
Het |
| Gck |
T |
C |
11: 5,852,244 (GRCm39) |
D365G |
possibly damaging |
Het |
| Hspa12a |
A |
G |
19: 58,813,708 (GRCm39) |
F139S |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,018 (GRCm39) |
D497G |
probably damaging |
Het |
| Ino80 |
A |
G |
2: 119,232,848 (GRCm39) |
S1157P |
probably damaging |
Het |
| Jmjd6 |
A |
G |
11: 116,729,952 (GRCm39) |
I315T |
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lyst |
C |
T |
13: 13,935,333 (GRCm39) |
H3601Y |
probably damaging |
Het |
| Mars2 |
T |
C |
1: 55,276,624 (GRCm39) |
S76P |
probably benign |
Het |
| Mtmr10 |
A |
G |
7: 63,969,249 (GRCm39) |
E337G |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,760,246 (GRCm39) |
D254G |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 49,770,292 (GRCm39) |
E117V |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,884,937 (GRCm39) |
S36P |
possibly damaging |
Het |
| Rps6kc1 |
A |
C |
1: 190,531,222 (GRCm39) |
L927V |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,441,080 (GRCm39) |
I1042N |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,481,259 (GRCm39) |
N41D |
possibly damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,834,855 (GRCm39) |
T5A |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,123,441 (GRCm39) |
T194I |
probably benign |
Het |
| Tmem234 |
T |
A |
4: 129,500,922 (GRCm39) |
V93D |
probably damaging |
Het |
| Trim43b |
T |
C |
9: 88,971,559 (GRCm39) |
E199G |
probably benign |
Het |
| Ttc24 |
A |
T |
3: 87,980,136 (GRCm39) |
V148E |
probably benign |
Het |
| Utp15 |
A |
G |
13: 98,387,119 (GRCm39) |
F434L |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,424 (GRCm39) |
Y349C |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,546,844 (GRCm39) |
V865E |
probably damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,521,340 (GRCm39) |
R821C |
probably damaging |
Het |
| Zfp90 |
A |
G |
8: 107,145,791 (GRCm39) |
D41G |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,744,148 (GRCm39) |
C835S |
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 |
|
|
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 |
|
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'- ACTCAGTTCCGAGTCCTAGCAC -3'
(R):5'- TCACAGAGCGTAGTCGAGTC -3'
Sequencing Primer
(F):5'- AGTCCTAGCACCCTTGGGTG -3'
(R):5'- AGAGCGTAGTCGAGTCTCCTTTTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation