Incidental Mutation 'IGL02211:Rhpn1'
ID |
284702 |
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 # |
IGL02211
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
75576097-75586268 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75582905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 281
(S281P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023244]
[ENSMUST00000121137]
[ENSMUST00000149407]
|
AlphaFold |
Q61085 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023244
AA Change: S281P
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000023244 Gene: ENSMUSG00000022580 AA Change: S281P
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 |
possibly damaging
Transcript: ENSMUST00000121137
AA Change: S281P
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113042 Gene: ENSMUSG00000022580 AA Change: S281P
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: S281P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000116837 Gene: ENSMUSG00000022580 AA Change: S281P
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
Cpa6 |
A |
T |
1: 10,665,861 (GRCm39) |
I59K |
possibly damaging |
Het |
Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
Cxcl16 |
T |
C |
11: 70,346,858 (GRCm39) |
H95R |
possibly damaging |
Het |
Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
A |
G |
6: 90,648,591 (GRCm39) |
L830P |
probably damaging |
Het |
Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
Or2ak4 |
G |
T |
11: 58,649,196 (GRCm39) |
S235I |
possibly damaging |
Het |
Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
Rhbdf2 |
A |
G |
11: 116,491,261 (GRCm39) |
F625L |
possibly damaging |
Het |
Samd3 |
G |
T |
10: 26,109,455 (GRCm39) |
G128W |
probably damaging |
Het |
Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
Slc25a25 |
A |
G |
2: 32,307,452 (GRCm39) |
V303A |
probably damaging |
Het |
Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
probably damaging |
Het |
|
Other mutations in Rhpn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00965:Rhpn1
|
APN |
15 |
75,583,735 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |