Incidental Mutation 'R6541:Hhatl'
| ID |
520770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhatl
|
| Ensembl Gene |
ENSMUSG00000032523 |
| Gene Name |
hedgehog acyltransferase-like |
| Synonyms |
Mg56, Mitsugumin 56, Gup1, 1110011D13Rik |
| MMRRC Submission |
044667-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121613082-121621573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121614210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 385
(V385I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000098272]
[ENSMUST00000163981]
[ENSMUST00000214768]
[ENSMUST00000215477]
[ENSMUST00000215910]
|
| AlphaFold |
Q9D1G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035110
AA Change: V385I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: V385I
| 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 damaging
Transcript: ENSMUST00000163981
AA Change: V385I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: V385I
| 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
|
| Meta Mutation Damage Score |
0.2126 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ass1 |
T |
C |
2: 31,400,245 (GRCm39) |
V321A |
probably damaging |
Het |
| BC028528 |
T |
A |
3: 95,795,530 (GRCm39) |
M91L |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,713,054 (GRCm39) |
T998A |
probably benign |
Het |
| Cdkl3 |
T |
G |
11: 51,913,571 (GRCm39) |
L220R |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,548,040 (GRCm39) |
D117G |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,248,779 (GRCm39) |
V1776A |
possibly damaging |
Het |
| Crygf |
T |
C |
1: 65,967,224 (GRCm39) |
F116S |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,084,648 (GRCm39) |
Y20F |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,009,799 (GRCm39) |
V179A |
probably benign |
Het |
| Gm28360 |
T |
C |
1: 117,758,047 (GRCm39) |
|
probably benign |
Het |
| Iba57 |
A |
T |
11: 59,049,689 (GRCm39) |
D219E |
possibly damaging |
Het |
| Il36b |
T |
A |
2: 24,049,827 (GRCm39) |
V146D |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,910,734 (GRCm39) |
V176E |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,571,517 (GRCm39) |
M1060V |
possibly damaging |
Het |
| Kif18b |
T |
C |
11: 102,805,092 (GRCm39) |
K351R |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,885,607 (GRCm39) |
F342L |
possibly damaging |
Het |
| Ndufa11 |
T |
A |
17: 57,024,867 (GRCm39) |
S10T |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,492 (GRCm39) |
N198Y |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,638 (GRCm39) |
F101S |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,410 (GRCm39) |
F47Y |
probably benign |
Het |
| Or7h8 |
T |
A |
9: 20,123,695 (GRCm39) |
F17I |
probably benign |
Het |
| Pacsin3 |
A |
G |
2: 91,093,129 (GRCm39) |
E207G |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,274,103 (GRCm39) |
L136Q |
probably damaging |
Het |
| Prr18 |
G |
T |
17: 8,560,168 (GRCm39) |
R108L |
possibly damaging |
Het |
| Rdh5 |
A |
G |
10: 128,753,977 (GRCm39) |
V44A |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,542,748 (GRCm39) |
T343A |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,913,268 (GRCm39) |
N480S |
probably benign |
Het |
| Spaca7b |
T |
A |
8: 11,712,613 (GRCm39) |
Q79L |
probably benign |
Het |
| Sval3 |
A |
T |
6: 41,949,380 (GRCm39) |
N73Y |
probably damaging |
Het |
| Taar7d |
T |
C |
10: 23,904,129 (GRCm39) |
I337T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,039 (GRCm39) |
Q24618L |
possibly damaging |
Het |
| Ugt1a9 |
T |
A |
1: 87,999,318 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,701,480 (GRCm39) |
I7F |
probably benign |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,939 (GRCm39) |
S155P |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,090,842 (GRCm39) |
V169E |
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 |
|
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'- TGACTCCAGAAAGCACCGTG -3'
(R):5'- CCAGCCACAGATATGGAAGTC -3'
Sequencing Primer
(F):5'- GCCACCACCTCCTGTCATCAG -3'
(R):5'- AGGTTCGCCCTCCAGTTTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation