Incidental Mutation 'R8771:Hhatl'
| ID |
664415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhatl
|
| Ensembl Gene |
ENSMUSG00000032523 |
| Gene Name |
hedgehog acyltransferase-like |
| Synonyms |
Mg56, Mitsugumin 56, Gup1, 1110011D13Rik |
| MMRRC Submission |
068602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121613082-121621573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121617776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 271
(T271I)
|
| 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: T271I
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: T271I
| 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: T271I
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: T271I
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,880,320 (GRCm39) |
I451T |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,880,496 (GRCm39) |
K1236E |
unknown |
Het |
| AI661453 |
T |
C |
17: 47,777,683 (GRCm39) |
S470P |
unknown |
Het |
| Ano5 |
C |
A |
7: 51,216,095 (GRCm39) |
N357K |
probably damaging |
Het |
| Ano5 |
C |
T |
7: 51,220,047 (GRCm39) |
Q396* |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,273,151 (GRCm39) |
M1425K |
probably benign |
Het |
| Cdh22 |
A |
T |
2: 164,988,689 (GRCm39) |
V222E |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,249 (GRCm39) |
I144T |
possibly damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,761,940 (GRCm39) |
N1309I |
probably damaging |
Het |
| Dnmt3b |
C |
T |
2: 153,504,734 (GRCm39) |
T112M |
possibly damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,907,848 (GRCm39) |
Q1283* |
probably null |
Het |
| Etnppl |
T |
A |
3: 130,414,024 (GRCm39) |
M41K |
probably damaging |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,423 (GRCm39) |
S74P |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,779 (GRCm39) |
V272A |
probably benign |
Het |
| Lgr6 |
A |
T |
1: 134,933,429 (GRCm39) |
L262* |
probably null |
Het |
| Lrriq3 |
G |
A |
3: 154,899,270 (GRCm39) |
V590I |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,668 (GRCm39) |
V382A |
probably damaging |
Het |
| Minar2 |
T |
C |
18: 59,200,052 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,240,596 (GRCm39) |
T1429A |
probably benign |
Het |
| Mroh5 |
A |
T |
15: 73,693,203 (GRCm39) |
M79K |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,556,709 (GRCm39) |
K553R |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,565 (GRCm39) |
K298R |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,294 (GRCm39) |
Y149C |
probably benign |
Het |
| Or5m10b |
T |
G |
2: 85,699,712 (GRCm39) |
Y259D |
probably damaging |
Het |
| Or5p76 |
T |
A |
7: 108,122,632 (GRCm39) |
N175I |
possibly damaging |
Het |
| Prl7a1 |
A |
T |
13: 27,819,811 (GRCm39) |
W148R |
probably damaging |
Het |
| Ptpn2 |
G |
T |
18: 67,805,659 (GRCm39) |
T402K |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,068,987 (GRCm39) |
M1665T |
possibly damaging |
Het |
| Raet1e |
G |
T |
10: 22,057,041 (GRCm39) |
V122F |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,841 (GRCm39) |
E255G |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,188,624 (GRCm39) |
Y828C |
probably damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,989 (GRCm39) |
H4L |
probably benign |
Het |
| Sptssa |
A |
G |
12: 54,703,211 (GRCm39) |
Y20H |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,710,491 (GRCm39) |
S939P |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,010,800 (GRCm39) |
V568A |
probably damaging |
Het |
| Tmem132c |
C |
T |
5: 127,437,192 (GRCm39) |
P227L |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,286,180 (GRCm39) |
S548P |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,721,018 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,042,762 (GRCm39) |
Y436C |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,685,554 (GRCm39) |
D2226G |
possibly damaging |
Het |
| Vmn1r142 |
T |
C |
7: 21,862,737 (GRCm39) |
M242V |
probably benign |
Het |
| Vmn2r12 |
T |
G |
5: 109,239,952 (GRCm39) |
T204P |
possibly damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r61 |
C |
A |
7: 41,916,194 (GRCm39) |
A269D |
probably damaging |
Het |
| Zfp148 |
A |
G |
16: 33,317,656 (GRCm39) |
D776G |
possibly damaging |
Het |
| Zfp775 |
A |
T |
6: 48,596,906 (GRCm39) |
Q260L |
probably benign |
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 |
|
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'- AAGGAAATGAGCGTCCCTACAC -3'
(R):5'- AGCGTAGTCGAGTCTCCTTTTC -3'
Sequencing Primer
(F):5'- GAAATGAGCGTCCCTACACGTTTC -3'
(R):5'- TCTTAGACGTAGCTCCCAGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation