Incidental Mutation 'IGL00965:Rhpn1'
| ID |
29090 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhpn1
|
| Ensembl Gene |
ENSMUSG00000022580 |
| Gene Name |
rhophilin, Rho GTPase binding protein 1 |
| Synonyms |
Grbp, Rhophilin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
75576097-75586268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 75583735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 407
(R407S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023244]
[ENSMUST00000121137]
[ENSMUST00000149407]
|
| AlphaFold |
Q61085 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023244
AA Change: R407S
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023244
Gene: ENSMUSG00000022580
AA Change: R407S
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
42 |
105 |
1.98e-17 |
SMART |
|
BRO1
|
115 |
498 |
4.31e-147 |
SMART |
|
PDZ
|
508 |
578 |
9.27e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121137
AA Change: R407S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113042
Gene: ENSMUSG00000022580
AA Change: R407S
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
42 |
105 |
1.98e-17 |
SMART |
|
BRO1
|
115 |
516 |
1.64e-161 |
SMART |
|
PDZ
|
526 |
596 |
9.27e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143056
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149407
AA Change: R407S
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116837
Gene: ENSMUSG00000022580
AA Change: R407S
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
42 |
105 |
1.98e-17 |
SMART |
|
BRO1
|
115 |
449 |
7.17e-103 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
C |
T |
2: 164,646,735 (GRCm39) |
M1I |
probably null |
Het |
| Adam33 |
T |
C |
2: 130,896,183 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,332 (GRCm39) |
T1236I |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,387,107 (GRCm39) |
V832A |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,536,319 (GRCm39) |
Y91* |
probably null |
Het |
| Atp9a |
C |
A |
2: 168,482,600 (GRCm39) |
V845L |
probably benign |
Het |
| Cfap100 |
C |
T |
6: 90,392,787 (GRCm39) |
E108K |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,655,860 (GRCm39) |
|
probably null |
Het |
| Cibar2 |
T |
C |
8: 120,893,429 (GRCm39) |
Q254R |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,071,821 (GRCm39) |
I498V |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,110,789 (GRCm39) |
L1008* |
probably null |
Het |
| Gm42688 |
C |
T |
6: 83,080,373 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,544,771 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,233,108 (GRCm39) |
V219A |
probably damaging |
Het |
| Hsf2 |
C |
T |
10: 57,388,196 (GRCm39) |
P447S |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,269 (GRCm39) |
I162N |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,337,561 (GRCm39) |
T107A |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,846,378 (GRCm39) |
N24I |
probably benign |
Het |
| Mgat3 |
C |
A |
15: 80,096,634 (GRCm39) |
A487D |
probably damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,947 (GRCm39) |
V124M |
probably benign |
Het |
| Or52ae9 |
T |
A |
7: 103,390,172 (GRCm39) |
I92F |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,746 (GRCm39) |
D199G |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,455 (GRCm39) |
L30Q |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,456,235 (GRCm39) |
Y75H |
probably damaging |
Het |
| Rgl2 |
G |
T |
17: 34,154,910 (GRCm39) |
C638F |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,174,613 (GRCm39) |
S1222P |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
G |
A |
15: 76,516,080 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn2r13 |
A |
C |
5: 109,303,964 (GRCm39) |
F822L |
probably damaging |
Het |
|
| Other mutations in Rhpn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02211:Rhpn1
|
APN |
15 |
75,582,905 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0049:Rhpn1
|
UTSW |
15 |
75,581,088 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0049:Rhpn1
|
UTSW |
15 |
75,581,088 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0240:Rhpn1
|
UTSW |
15 |
75,585,971 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0240:Rhpn1
|
UTSW |
15 |
75,585,971 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0324:Rhpn1
|
UTSW |
15 |
75,583,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0426:Rhpn1
|
UTSW |
15 |
75,583,721 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0453:Rhpn1
|
UTSW |
15 |
75,585,428 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0893:Rhpn1
|
UTSW |
15 |
75,583,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1051:Rhpn1
|
UTSW |
15 |
75,584,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1571:Rhpn1
|
UTSW |
15 |
75,585,967 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1906:Rhpn1
|
UTSW |
15 |
75,583,673 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1907:Rhpn1
|
UTSW |
15 |
75,583,673 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2110:Rhpn1
|
UTSW |
15 |
75,585,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Rhpn1
|
UTSW |
15 |
75,576,243 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R3943:Rhpn1
|
UTSW |
15 |
75,583,655 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4030:Rhpn1
|
UTSW |
15 |
75,582,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4552:Rhpn1
|
UTSW |
15 |
75,585,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5015:Rhpn1
|
UTSW |
15 |
75,580,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Rhpn1
|
UTSW |
15 |
75,586,064 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5121:Rhpn1
|
UTSW |
15 |
75,581,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Rhpn1
|
UTSW |
15 |
75,580,054 (GRCm39) |
missense |
probably benign |
|
|
R7324:Rhpn1
|
UTSW |
15 |
75,576,246 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7596:Rhpn1
|
UTSW |
15 |
75,584,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7610:Rhpn1
|
UTSW |
15 |
75,584,245 (GRCm39) |
missense |
unknown |
|
|
R7808:Rhpn1
|
UTSW |
15 |
75,585,299 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8103:Rhpn1
|
UTSW |
15 |
75,581,115 (GRCm39) |
missense |
probably null |
1.00 |
|
R8128:Rhpn1
|
UTSW |
15 |
75,583,032 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8746:Rhpn1
|
UTSW |
15 |
75,585,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Rhpn1
|
UTSW |
15 |
75,585,120 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9781:Rhpn1
|
UTSW |
15 |
75,582,543 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Rhpn1
|
UTSW |
15 |
75,583,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation