Incidental Mutation 'R4320:Htr1f'
| ID |
323792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htr1f
|
| Ensembl Gene |
ENSMUSG00000050783 |
| Gene Name |
5-hydroxytryptamine (serotonin) receptor 1F |
| Synonyms |
Htr1eb |
| MMRRC Submission |
041661-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4320 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
64745092-64926147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64747050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 81
(I81V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063076]
|
| AlphaFold |
Q02284 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063076
AA Change: I81V
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063136
Gene: ENSMUSG00000050783
AA Change: I81V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
32 |
230 |
4.8e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
362 |
2.4e-10 |
PFAM |
|
Pfam:7tm_1
|
40 |
347 |
4.1e-74 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
54 |
249 |
5.2e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.0757 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (46/48) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display decreased temperature sensitivity and physiological abnormalities in nerve fibers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,483,398 (GRCm39) |
M91K |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,393 (GRCm39) |
L136P |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
| Grk5 |
C |
T |
19: 61,080,383 (GRCm39) |
R576* |
probably null |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,219 (GRCm39) |
I148N |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
| Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,960,493 (GRCm39) |
H66R |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
| Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
| Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
| Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
| Usp3 |
A |
G |
9: 66,437,530 (GRCm39) |
C258R |
possibly damaging |
Het |
| Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Htr1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Htr1f
|
APN |
16 |
64,746,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01134:Htr1f
|
APN |
16 |
64,746,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01455:Htr1f
|
APN |
16 |
64,746,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01580:Htr1f
|
APN |
16 |
64,746,198 (GRCm39) |
nonsense |
probably null |
|
|
IGL01865:Htr1f
|
APN |
16 |
64,746,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02027:Htr1f
|
APN |
16 |
64,746,684 (GRCm39) |
nonsense |
probably null |
|
|
IGL02234:Htr1f
|
APN |
16 |
64,746,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Htr1f
|
APN |
16 |
64,746,611 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0035:Htr1f
|
UTSW |
16 |
64,746,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Htr1f
|
UTSW |
16 |
64,747,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Htr1f
|
UTSW |
16 |
64,747,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Htr1f
|
UTSW |
16 |
64,747,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Htr1f
|
UTSW |
16 |
64,747,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Htr1f
|
UTSW |
16 |
64,746,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0722:Htr1f
|
UTSW |
16 |
64,746,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2055:Htr1f
|
UTSW |
16 |
64,746,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3418:Htr1f
|
UTSW |
16 |
64,746,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Htr1f
|
UTSW |
16 |
64,746,324 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5037:Htr1f
|
UTSW |
16 |
64,746,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Htr1f
|
UTSW |
16 |
64,746,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Htr1f
|
UTSW |
16 |
64,747,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7462:Htr1f
|
UTSW |
16 |
64,746,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7864:Htr1f
|
UTSW |
16 |
64,747,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Htr1f
|
UTSW |
16 |
64,746,414 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8816:Htr1f
|
UTSW |
16 |
64,746,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8836:Htr1f
|
UTSW |
16 |
64,747,196 (GRCm39) |
missense |
probably benign |
|
|
R9106:Htr1f
|
UTSW |
16 |
64,746,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Htr1f
|
UTSW |
16 |
64,746,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9182:Htr1f
|
UTSW |
16 |
64,746,825 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9244:Htr1f
|
UTSW |
16 |
64,746,857 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9430:Htr1f
|
UTSW |
16 |
64,746,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Htr1f
|
UTSW |
16 |
64,747,237 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Htr1f
|
UTSW |
16 |
64,746,440 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGATCGTGATCATGATGCCG -3'
(R):5'- GAGGAACTGTTAAACCGAATGC -3'
Sequencing Primer
(F):5'- TGATCATGATGCCGGCATGC -3'
(R):5'- GAATGCCATCCAAAATTCTGGTATCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation