Incidental Mutation 'R8128:Rhpn1'
| ID |
631865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhpn1
|
| Ensembl Gene |
ENSMUSG00000022580 |
| Gene Name |
rhophilin, Rho GTPase binding protein 1 |
| Synonyms |
Grbp, Rhophilin |
| MMRRC Submission |
067557-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8128 (G1)
|
| Quality Score |
127.008 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75576097-75586268 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 75583032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023244]
[ENSMUST00000121137]
[ENSMUST00000149407]
|
| AlphaFold |
Q61085 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023244
|
| SMART Domains |
Protein: ENSMUSP00000023244
Gene: ENSMUSG00000022580
| 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 null
Transcript: ENSMUST00000121137
|
| SMART Domains |
Protein: ENSMUSP00000113042
Gene: ENSMUSG00000022580
| 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 |
probably benign
Transcript: ENSMUST00000149407
|
| SMART Domains |
Protein: ENSMUSP00000116837
Gene: ENSMUSG00000022580
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
42 |
105 |
1.98e-17 |
SMART |
|
BRO1
|
115 |
449 |
7.17e-103 |
SMART |
|
| Meta Mutation Damage Score |
0.9498 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,008,395 (GRCm39) |
R1188G |
probably damaging |
Het |
| Abcc5 |
G |
A |
16: 20,184,473 (GRCm39) |
R1036C |
probably damaging |
Het |
| Arhgap22 |
T |
A |
14: 33,089,042 (GRCm39) |
F508I |
probably benign |
Het |
| Bahcc1 |
C |
T |
11: 120,163,216 (GRCm39) |
Q505* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,916,253 (GRCm39) |
L1723Q |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,784,940 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
C |
A |
5: 5,646,034 (GRCm39) |
M555I |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,676,691 (GRCm39) |
A773T |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,963,129 (GRCm39) |
V15A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,784,789 (GRCm39) |
R206G |
unknown |
Het |
| Dscam |
C |
A |
16: 96,602,374 (GRCm39) |
|
probably null |
Het |
| Eif3k |
A |
T |
7: 28,679,742 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
G |
T |
11: 61,413,321 (GRCm39) |
|
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,568 (GRCm39) |
D215G |
probably benign |
Het |
| Foxa3 |
A |
T |
7: 18,757,341 (GRCm39) |
M1K |
probably null |
Het |
| Glyctk |
T |
C |
9: 106,032,501 (GRCm39) |
H504R |
probably benign |
Het |
| Grin3b |
T |
C |
10: 79,812,944 (GRCm39) |
L394P |
|
Het |
| Hgh1 |
A |
G |
15: 76,254,581 (GRCm39) |
Y319C |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,117,622 (GRCm39) |
T635A |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,346,947 (GRCm39) |
N627K |
probably damaging |
Het |
| Lmtk3 |
G |
T |
7: 45,443,598 (GRCm39) |
M760I |
|
Het |
| Lrp1b |
G |
A |
2: 41,159,248 (GRCm39) |
A1678V |
probably null |
Het |
| Lrrc8c |
A |
T |
5: 105,755,488 (GRCm39) |
N421I |
probably damaging |
Het |
| Mfsd13b |
C |
A |
7: 120,590,495 (GRCm39) |
R79S |
possibly damaging |
Het |
| Or1q1 |
A |
T |
2: 36,887,673 (GRCm39) |
M284L |
probably benign |
Het |
| Or5p50 |
A |
C |
7: 107,422,632 (GRCm39) |
F15V |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,234 (GRCm39) |
T426A |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,449 (GRCm39) |
I500F |
possibly damaging |
Het |
| Polr3gl |
T |
A |
3: 96,487,824 (GRCm39) |
|
probably null |
Het |
| Psmg3 |
A |
G |
5: 139,809,788 (GRCm39) |
V86A |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,977,099 (GRCm39) |
V102E |
probably damaging |
Het |
| Scand1 |
T |
C |
2: 156,153,961 (GRCm39) |
D103G |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,850,383 (GRCm39) |
I70T |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 73,934,049 (GRCm39) |
S708T |
probably damaging |
Het |
| Sprr2d |
G |
A |
3: 92,247,760 (GRCm39) |
C67Y |
unknown |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Trafd1 |
G |
T |
5: 121,510,465 (GRCm39) |
P567Q |
possibly damaging |
Het |
| Trim32 |
A |
G |
4: 65,531,682 (GRCm39) |
N80D |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,113 (GRCm39) |
L293S |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,747 (GRCm39) |
M272K |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,954,155 (GRCm39) |
L773Q |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCATGAGCACTGTATCCATC -3'
(R):5'- ACCTCAAGAAAAGCTGGGAC -3'
Sequencing Primer
(F):5'- ATGAGCACTGTATCCATCCTCAGG -3'
(R):5'- ACACAGAGCACTAGATGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation