Incidental Mutation 'IGL01818:Htr1d'
| ID |
154437 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Htr1d
|
| Ensembl Gene |
ENSMUSG00000070687 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 1D |
| Synonyms |
Htr1db, Gpcr14 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01818
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
136150835-136171709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136170197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 142
(E142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088677]
[ENSMUST00000117699]
[ENSMUST00000121571]
|
| AlphaFold |
Q61224 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088677
AA Change: E142G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000086052
Gene: ENSMUSG00000070687
AA Change: E142G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
46 |
368 |
1.2e-11 |
PFAM |
|
Pfam:7tm_1
|
52 |
353 |
1.2e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117699
AA Change: E142G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112840
Gene: ENSMUSG00000070687
AA Change: E142G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
46 |
368 |
1.2e-11 |
PFAM |
|
Pfam:7tm_1
|
52 |
353 |
2.7e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121571
AA Change: E142G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112402
Gene: ENSMUSG00000070687
AA Change: E142G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
46 |
368 |
1.2e-11 |
PFAM |
|
Pfam:7tm_1
|
52 |
353 |
2.7e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133818
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,294,018 (GRCm39) |
D35G |
probably benign |
Het |
| C3ar1 |
T |
C |
6: 122,827,378 (GRCm39) |
N280D |
probably benign |
Het |
| Ccpg1 |
A |
G |
9: 72,904,735 (GRCm39) |
T15A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,956,616 (GRCm39) |
V361A |
probably damaging |
Het |
| Dnmbp |
T |
A |
19: 43,889,604 (GRCm39) |
K721M |
probably damaging |
Het |
| Elmod3 |
T |
C |
6: 72,563,490 (GRCm39) |
E46G |
possibly damaging |
Het |
| Gm4922 |
T |
C |
10: 18,660,701 (GRCm39) |
D7G |
unknown |
Het |
| H2-T24 |
C |
A |
17: 36,328,128 (GRCm39) |
|
probably benign |
Het |
| Hal |
A |
T |
10: 93,326,846 (GRCm39) |
T161S |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,483,366 (GRCm39) |
E677G |
probably damaging |
Het |
| Mrps31 |
T |
C |
8: 22,901,483 (GRCm39) |
M1T |
probably null |
Het |
| Nckap1l |
T |
C |
15: 103,386,709 (GRCm39) |
L628P |
probably damaging |
Het |
| Oosp2 |
T |
C |
19: 11,627,053 (GRCm39) |
N90S |
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 72,003,077 (GRCm39) |
|
probably benign |
Het |
| Ppox |
A |
T |
1: 171,108,318 (GRCm39) |
I6K |
probably benign |
Het |
| Skint6 |
G |
T |
4: 112,805,766 (GRCm39) |
Q690K |
probably benign |
Het |
| Stat1 |
T |
C |
1: 52,190,437 (GRCm39) |
I564T |
probably damaging |
Het |
| Tiam1 |
T |
A |
16: 89,664,592 (GRCm39) |
I539F |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,095,594 (GRCm39) |
R35G |
possibly damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,267 (GRCm39) |
C343S |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,891,838 (GRCm39) |
L736S |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,109 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Htr1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Htr1d
|
APN |
4 |
136,170,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01952:Htr1d
|
APN |
4 |
136,170,872 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02696:Htr1d
|
APN |
4 |
136,170,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0112:Htr1d
|
UTSW |
4 |
136,170,311 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0147:Htr1d
|
UTSW |
4 |
136,170,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Htr1d
|
UTSW |
4 |
136,170,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Htr1d
|
UTSW |
4 |
136,170,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2764:Htr1d
|
UTSW |
4 |
136,170,376 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3622:Htr1d
|
UTSW |
4 |
136,170,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3623:Htr1d
|
UTSW |
4 |
136,170,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3624:Htr1d
|
UTSW |
4 |
136,170,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3894:Htr1d
|
UTSW |
4 |
136,170,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4567:Htr1d
|
UTSW |
4 |
136,170,836 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4735:Htr1d
|
UTSW |
4 |
136,170,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6190:Htr1d
|
UTSW |
4 |
136,170,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Htr1d
|
UTSW |
4 |
136,170,317 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7123:Htr1d
|
UTSW |
4 |
136,169,664 (GRCm39) |
start gained |
probably benign |
|
|
R7223:Htr1d
|
UTSW |
4 |
136,170,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Htr1d
|
UTSW |
4 |
136,170,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8399:Htr1d
|
UTSW |
4 |
136,170,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8514:Htr1d
|
UTSW |
4 |
136,170,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Htr1d
|
UTSW |
4 |
136,170,554 (GRCm39) |
missense |
probably benign |
|
|
R8982:Htr1d
|
UTSW |
4 |
136,170,866 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9497:Htr1d
|
UTSW |
4 |
136,169,663 (GRCm39) |
start gained |
probably benign |
|
|
R9505:Htr1d
|
UTSW |
4 |
136,170,889 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation