Incidental Mutation 'R6670:Hhatl'
ID |
527105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hhatl
|
Ensembl Gene |
ENSMUSG00000032523 |
Gene Name |
hedgehog acyltransferase-like |
Synonyms |
Mg56, Mitsugumin 56, Gup1, 1110011D13Rik |
MMRRC Submission |
044790-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6670 (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 C
at 121618137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 206
(D206G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000163981]
[ENSMUST00000214768]
[ENSMUST00000215477]
[ENSMUST00000215910]
[ENSMUST00000217652]
|
AlphaFold |
Q9D1G3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035110
AA Change: D206G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035110 Gene: ENSMUSG00000032523 AA Change: D206G
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 damaging
Transcript: ENSMUST00000163981
AA Change: D206G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131971 Gene: ENSMUSG00000032523 AA Change: D206G
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,827,850 (GRCm39) |
1544 |
probably benign |
Het |
Acsm3 |
T |
A |
7: 119,379,978 (GRCm39) |
|
probably null |
Het |
AW551984 |
T |
C |
9: 39,504,292 (GRCm39) |
D558G |
probably damaging |
Het |
Bcl9l |
GTGAACATGAACATGAACATGAAC |
GTGAACATGAACATGAACATGAACATGAAC |
9: 44,418,369 (GRCm39) |
|
probably benign |
Het |
Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
Ccdc12 |
T |
G |
9: 110,537,595 (GRCm39) |
|
probably null |
Het |
Ctsl |
T |
C |
13: 64,511,916 (GRCm39) |
|
probably null |
Het |
Cul1 |
T |
A |
6: 47,494,068 (GRCm39) |
D460E |
probably damaging |
Het |
Dnttip2 |
T |
A |
3: 122,069,870 (GRCm39) |
S362T |
probably damaging |
Het |
Fbxw16 |
T |
A |
9: 109,267,280 (GRCm39) |
D317V |
probably damaging |
Het |
Fbxw9 |
T |
A |
8: 85,788,839 (GRCm39) |
N196K |
possibly damaging |
Het |
Grap |
A |
G |
11: 61,551,064 (GRCm39) |
D32G |
probably damaging |
Het |
Hrnr |
A |
T |
3: 93,239,192 (GRCm39) |
Q3143H |
unknown |
Het |
Ighv1-62-1 |
T |
C |
12: 115,350,529 (GRCm39) |
Y46C |
probably damaging |
Het |
Krtap16-3 |
A |
T |
16: 88,759,540 (GRCm39) |
Y58N |
unknown |
Het |
Mef2c |
A |
G |
13: 83,810,716 (GRCm39) |
K384R |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,702,084 (GRCm39) |
Y476H |
possibly damaging |
Het |
Oxgr1 |
A |
T |
14: 120,259,669 (GRCm39) |
N179K |
probably damaging |
Het |
Polk |
G |
A |
13: 96,633,138 (GRCm39) |
Q302* |
probably null |
Het |
Rab3gap1 |
T |
A |
1: 127,858,512 (GRCm39) |
S540R |
probably benign |
Het |
Samd5 |
A |
T |
10: 9,504,808 (GRCm39) |
|
probably null |
Het |
Sema6d |
GTGATAC |
G |
2: 124,496,762 (GRCm39) |
|
probably benign |
Het |
Slc1a6 |
C |
A |
10: 78,623,646 (GRCm39) |
A15D |
probably benign |
Het |
Slc8a1 |
A |
G |
17: 81,956,883 (GRCm39) |
C52R |
probably damaging |
Het |
Sod2 |
T |
A |
17: 13,227,252 (GRCm39) |
Y69N |
possibly damaging |
Het |
Tank |
T |
C |
2: 61,474,768 (GRCm39) |
|
probably null |
Het |
Tbc1d23 |
A |
T |
16: 57,034,580 (GRCm39) |
I73N |
probably benign |
Het |
Tnf |
A |
C |
17: 35,420,800 (GRCm39) |
M6R |
possibly damaging |
Het |
Trmt2a |
C |
T |
16: 18,068,341 (GRCm39) |
A16V |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,556,055 (GRCm39) |
Y21990H |
probably damaging |
Het |
Uaca |
C |
T |
9: 60,779,306 (GRCm39) |
S1231L |
probably benign |
Het |
Ubr1 |
A |
G |
2: 120,754,611 (GRCm39) |
|
probably null |
Het |
Unc13b |
A |
G |
4: 43,255,562 (GRCm39) |
D3849G |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,644 (GRCm39) |
D723V |
probably damaging |
Het |
Wnt2 |
C |
A |
6: 18,028,091 (GRCm39) |
V48L |
possibly 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 |
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'- TGAATGTGCCATAGCTCGC -3'
(R):5'- AGCACAGACCTGCTAGTGAG -3'
Sequencing Primer
(F):5'- AGACACAGCGTCCTGAGG -3'
(R):5'- AAGACGTACTGTTCCACG -3'
|
Posted On |
2018-07-23 |