Incidental Mutation 'IGL01942:Vmn1r44'
| ID |
180864 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r44
|
| Ensembl Gene |
ENSMUSG00000068234 |
| Gene Name |
vomeronasal 1 receptor 44 |
| Synonyms |
V1rb4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
89869126-89871188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89870806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 41
(M41K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089420]
[ENSMUST00000204656]
[ENSMUST00000226120]
[ENSMUST00000226171]
[ENSMUST00000226345]
[ENSMUST00000226760]
[ENSMUST00000227047]
[ENSMUST00000228700]
[ENSMUST00000227625]
[ENSMUST00000227747]
[ENSMUST00000227888]
[ENSMUST00000227456]
[ENSMUST00000228183]
|
| AlphaFold |
Q9EQ47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089420
AA Change: M184K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000100706
Gene: ENSMUSG00000068234
AA Change: M184K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
7 |
305 |
3.6e-10 |
PFAM |
|
Pfam:V1R
|
38 |
302 |
5.6e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204656
AA Change: M184K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000145135
Gene: ENSMUSG00000068234
AA Change: M184K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
38 |
70 |
2.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226120
AA Change: M41K
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226171
AA Change: M41K
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226345
AA Change: M184K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226760
AA Change: M184K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227047
AA Change: M184K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228700
AA Change: M184K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227625
AA Change: M41K
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227747
AA Change: M41K
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227888
AA Change: M41K
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227456
AA Change: M184K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228183
AA Change: M41K
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
G |
A |
7: 45,635,997 (GRCm39) |
R1017W |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,515 (GRCm39) |
R200G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,310,749 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
A |
C |
1: 172,113,876 (GRCm39) |
S369A |
probably benign |
Het |
| Bag3 |
T |
A |
7: 128,148,024 (GRCm39) |
D546E |
probably benign |
Het |
| Bcl6b |
T |
A |
11: 70,117,569 (GRCm39) |
Y379F |
probably damaging |
Het |
| Cbln2 |
T |
C |
18: 86,734,450 (GRCm39) |
V136A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,461,294 (GRCm39) |
D120E |
probably benign |
Het |
| Cd14 |
T |
A |
18: 36,858,693 (GRCm39) |
H254L |
possibly damaging |
Het |
| Chd3 |
A |
G |
11: 69,240,931 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,224,692 (GRCm39) |
R150H |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,673,784 (GRCm39) |
L405P |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,927 (GRCm39) |
C383Y |
probably damaging |
Het |
| Dse |
T |
A |
10: 34,031,989 (GRCm39) |
Q345L |
probably benign |
Het |
| Gnaz |
A |
G |
10: 74,850,706 (GRCm39) |
M244V |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,974 (GRCm39) |
Y209F |
possibly damaging |
Het |
| Inpp5f |
T |
C |
7: 128,269,493 (GRCm39) |
I281T |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
| Mapk8ip2 |
G |
A |
15: 89,341,220 (GRCm39) |
|
probably null |
Het |
| Med24 |
G |
A |
11: 98,600,508 (GRCm39) |
R646W |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,843,918 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,797,869 (GRCm39) |
M304V |
probably benign |
Het |
| Or4c35 |
G |
T |
2: 89,808,322 (GRCm39) |
V67L |
probably benign |
Het |
| Or8g50 |
A |
T |
9: 39,648,962 (GRCm39) |
M284L |
possibly damaging |
Het |
| Pgap3 |
T |
C |
11: 98,288,780 (GRCm39) |
Y125C |
probably damaging |
Het |
| Rasl12 |
T |
C |
9: 65,315,644 (GRCm39) |
V96A |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,801,874 (GRCm39) |
M127I |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,354,546 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
C |
T |
13: 33,269,294 (GRCm39) |
T9I |
possibly damaging |
Het |
| Setd1b |
T |
A |
5: 123,301,489 (GRCm39) |
F16I |
possibly damaging |
Het |
| Slc25a28 |
A |
G |
19: 43,652,947 (GRCm39) |
F238S |
probably damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,759,952 (GRCm39) |
V30A |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,762,962 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
A |
14: 47,528,107 (GRCm39) |
C347* |
probably null |
Het |
| Spock1 |
C |
T |
13: 57,578,141 (GRCm39) |
E367K |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,251,608 (GRCm39) |
R8H |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp575 |
T |
C |
7: 24,285,240 (GRCm39) |
T134A |
possibly damaging |
Het |
|
| Other mutations in Vmn1r44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1401:Vmn1r44
|
UTSW |
6 |
89,870,632 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4171:Vmn1r44
|
UTSW |
6 |
89,870,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Vmn1r44
|
UTSW |
6 |
89,870,915 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5265:Vmn1r44
|
UTSW |
6 |
89,870,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6264:Vmn1r44
|
UTSW |
6 |
89,870,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6498:Vmn1r44
|
UTSW |
6 |
89,870,562 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6994:Vmn1r44
|
UTSW |
6 |
89,871,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7025:Vmn1r44
|
UTSW |
6 |
89,870,736 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7456:Vmn1r44
|
UTSW |
6 |
89,870,401 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7597:Vmn1r44
|
UTSW |
6 |
89,870,818 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7813:Vmn1r44
|
UTSW |
6 |
89,869,192 (GRCm39) |
splice site |
probably benign |
|
|
R8127:Vmn1r44
|
UTSW |
6 |
89,870,845 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8426:Vmn1r44
|
UTSW |
6 |
89,870,470 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8434:Vmn1r44
|
UTSW |
6 |
89,870,610 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8461:Vmn1r44
|
UTSW |
6 |
89,870,701 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8680:Vmn1r44
|
UTSW |
6 |
89,870,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Vmn1r44
|
UTSW |
6 |
89,870,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9009:Vmn1r44
|
UTSW |
6 |
89,870,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Vmn1r44
|
UTSW |
6 |
89,870,997 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9193:Vmn1r44
|
UTSW |
6 |
89,870,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9432:Vmn1r44
|
UTSW |
6 |
89,870,473 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Posted On |
2014-05-07 |
Incidental Mutation