Incidental Mutation 'IGL01375:Htr1d'
ID |
78676 |
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 # |
IGL01375
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
136150835-136171709 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136170484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 238
(T238A)
|
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: T238A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000086052 Gene: ENSMUSG00000070687 AA Change: T238A
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: T238A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000112840 Gene: ENSMUSG00000070687 AA Change: T238A
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: T238A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000112402 Gene: ENSMUSG00000070687 AA Change: T238A
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa2 |
C |
T |
9: 69,390,301 (GRCm39) |
R68* |
probably null |
Het |
Apc |
C |
T |
18: 34,446,707 (GRCm39) |
S1167L |
probably damaging |
Het |
Aqp2 |
A |
G |
15: 99,479,983 (GRCm39) |
T149A |
possibly damaging |
Het |
Asb8 |
T |
C |
15: 98,039,190 (GRCm39) |
E70G |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,278,454 (GRCm39) |
I172V |
possibly damaging |
Het |
Cd38 |
A |
G |
5: 44,060,939 (GRCm39) |
M172V |
probably benign |
Het |
Dync2i1 |
G |
T |
12: 116,193,296 (GRCm39) |
A552E |
possibly damaging |
Het |
Dyrk2 |
A |
G |
10: 118,696,592 (GRCm39) |
V222A |
probably damaging |
Het |
Ephb6 |
T |
A |
6: 41,592,845 (GRCm39) |
|
probably benign |
Het |
Fbxo15 |
T |
C |
18: 84,976,404 (GRCm39) |
S48P |
possibly damaging |
Het |
Gsdma3 |
T |
C |
11: 98,520,767 (GRCm39) |
|
probably null |
Het |
H2bl1 |
A |
G |
13: 99,120,650 (GRCm39) |
|
probably benign |
Het |
Kcnh3 |
G |
A |
15: 99,124,874 (GRCm39) |
W108* |
probably null |
Het |
Kdsr |
A |
T |
1: 106,655,424 (GRCm39) |
Y272N |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,308,910 (GRCm39) |
|
probably benign |
Het |
Nup210l |
G |
A |
3: 90,067,200 (GRCm39) |
V747M |
probably damaging |
Het |
Or10g3 |
A |
G |
14: 52,609,865 (GRCm39) |
I215T |
probably damaging |
Het |
Or4a67 |
A |
G |
2: 88,597,810 (GRCm39) |
V283A |
probably benign |
Het |
Pfn3 |
T |
A |
13: 55,562,641 (GRCm39) |
R113S |
possibly damaging |
Het |
Pik3r4 |
T |
C |
9: 105,521,803 (GRCm39) |
I123T |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,060,640 (GRCm39) |
I3121N |
probably damaging |
Het |
Prepl |
C |
T |
17: 85,379,419 (GRCm39) |
G336D |
possibly damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Prps1l1 |
A |
G |
12: 35,035,631 (GRCm39) |
T249A |
possibly damaging |
Het |
Rptor |
T |
A |
11: 119,787,262 (GRCm39) |
F1276I |
possibly damaging |
Het |
Serpina3f |
G |
A |
12: 104,186,735 (GRCm39) |
V434I |
unknown |
Het |
Slc25a12 |
T |
C |
2: 71,138,394 (GRCm39) |
|
probably benign |
Het |
Slc4a4 |
T |
C |
5: 89,327,593 (GRCm39) |
C642R |
probably damaging |
Het |
Slit2 |
C |
T |
5: 48,439,056 (GRCm39) |
|
probably benign |
Het |
Tasor |
A |
G |
14: 27,162,120 (GRCm39) |
R159G |
probably damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,284,837 (GRCm39) |
V604A |
probably benign |
Het |
Tnfrsf1b |
T |
C |
4: 144,951,986 (GRCm39) |
Y126C |
probably damaging |
Het |
Traf4 |
T |
C |
11: 78,050,908 (GRCm39) |
N416S |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,024,733 (GRCm39) |
I1132T |
possibly damaging |
Het |
Vps8 |
T |
A |
16: 21,378,122 (GRCm39) |
Y642* |
probably null |
Het |
|
Other mutations in Htr1d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01818:Htr1d
|
APN |
4 |
136,170,197 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2013-11-05 |