Incidental Mutation 'R0436:Hhatl'
| ID |
212569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhatl
|
| Ensembl Gene |
ENSMUSG00000032523 |
| Gene Name |
hedgehog acyltransferase-like |
| Synonyms |
Mg56, Mitsugumin 56, Gup1, 1110011D13Rik |
| MMRRC Submission |
038637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0436 (G1)
|
| Quality Score |
26 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121613082-121621573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121617828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 254
(A254T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000098272]
[ENSMUST00000163981]
[ENSMUST00000214768]
[ENSMUST00000215477]
[ENSMUST00000215910]
[ENSMUST00000217652]
|
| AlphaFold |
Q9D1G3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035110
AA Change: A254T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: A254T
| 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: A254T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: A254T
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,461,682 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
C |
T |
8: 124,697,740 (GRCm39) |
G195S |
probably benign |
Het |
| Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
| Alx4 |
A |
T |
2: 93,498,702 (GRCm39) |
K145* |
probably null |
Het |
| Arl8a |
G |
A |
1: 135,074,718 (GRCm39) |
M1I |
probably null |
Het |
| Btbd16 |
G |
A |
7: 130,387,783 (GRCm39) |
S134N |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,414,933 (GRCm39) |
L474Q |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,243,079 (GRCm39) |
Y192H |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,709,511 (GRCm39) |
Q109R |
probably null |
Het |
| Cfap54 |
G |
T |
10: 92,874,837 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Cog2 |
C |
T |
8: 125,275,253 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,500,707 (GRCm39) |
N702S |
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,291,034 (GRCm39) |
D2472G |
probably damaging |
Het |
| Drgx |
T |
C |
14: 32,330,040 (GRCm39) |
F81S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,204,244 (GRCm39) |
F22L |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Eif4ebp3 |
A |
G |
18: 36,797,354 (GRCm39) |
|
probably null |
Het |
| Exd2 |
T |
C |
12: 80,537,544 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,535,047 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,378,630 (GRCm39) |
Y256C |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,504,044 (GRCm39) |
R527G |
probably benign |
Het |
| Helb |
C |
T |
10: 119,930,117 (GRCm39) |
|
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,135,054 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,295,624 (GRCm39) |
K2611R |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,557 (GRCm39) |
H236R |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,261,042 (GRCm39) |
Y178N |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,440,864 (GRCm39) |
|
probably benign |
Het |
| Jakmip2 |
G |
A |
18: 43,691,234 (GRCm39) |
Q616* |
probably null |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Msantd4 |
C |
T |
9: 4,385,180 (GRCm39) |
R302C |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,868 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,692,429 (GRCm39) |
L293F |
probably damaging |
Het |
| Odf2l |
C |
T |
3: 144,831,877 (GRCm39) |
T44I |
possibly damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,948 (GRCm39) |
V151A |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,915,360 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
C |
T |
17: 88,873,117 (GRCm39) |
T425I |
possibly damaging |
Het |
| Prrc2b |
A |
G |
2: 32,120,672 (GRCm39) |
E2204G |
probably damaging |
Het |
| Prrc2c |
A |
C |
1: 162,532,883 (GRCm39) |
|
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,980,028 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,371,455 (GRCm39) |
V197E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,913,183 (GRCm39) |
W593R |
possibly damaging |
Het |
| Tmem63a |
A |
T |
1: 180,800,298 (GRCm39) |
T696S |
probably benign |
Het |
| Tnks2 |
A |
G |
19: 36,826,758 (GRCm39) |
D165G |
possibly damaging |
Het |
| Trim43a |
T |
C |
9: 88,470,240 (GRCm39) |
W349R |
probably damaging |
Het |
| Unc45b |
T |
C |
11: 82,820,393 (GRCm39) |
|
probably benign |
Het |
| Vmn1r4 |
T |
A |
6: 56,933,947 (GRCm39) |
N150K |
probably damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,805,769 (GRCm39) |
|
probably benign |
Het |
| Wdr77 |
T |
A |
3: 105,867,342 (GRCm39) |
D63E |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,463,164 (GRCm39) |
T672A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,851 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AATGAGCGTCCCTACACGTTTCAG -3'
(R):5'- AGAGCGTAGTCGAGTCTCCTTTTCC -3'
Sequencing Primer
(F):5'- ACGTTTCAGACTCAGTTCCGAG -3'
(R):5'- CCTGACCTGCCGTCTTAG -3'
|
| Posted On |
2014-07-09 |
Incidental Mutation