Incidental Mutation 'IGL01995:Rasip1'
ID |
183657 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rasip1
|
Ensembl Gene |
ENSMUSG00000044562 |
Gene Name |
Ras interacting protein 1 |
Synonyms |
Rain, 2610025P08Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01995
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45276961-45288516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45286240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 821
(D821G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057927]
[ENSMUST00000148532]
|
AlphaFold |
Q3U0S6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057927
AA Change: D821G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062429 Gene: ENSMUSG00000044562 AA Change: D821G
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
low complexity region
|
59 |
67 |
N/A |
INTRINSIC |
low complexity region
|
72 |
90 |
N/A |
INTRINSIC |
low complexity region
|
97 |
112 |
N/A |
INTRINSIC |
RA
|
141 |
253 |
6.94e-8 |
SMART |
low complexity region
|
284 |
308 |
N/A |
INTRINSIC |
low complexity region
|
310 |
326 |
N/A |
INTRINSIC |
low complexity region
|
327 |
339 |
N/A |
INTRINSIC |
SCOP:d1gxca_
|
391 |
484 |
1e-2 |
SMART |
low complexity region
|
498 |
509 |
N/A |
INTRINSIC |
low complexity region
|
556 |
575 |
N/A |
INTRINSIC |
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
DIL
|
768 |
877 |
4.14e-44 |
SMART |
low complexity region
|
928 |
947 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148532
|
SMART Domains |
Protein: ENSMUSP00000114686 Gene: ENSMUSG00000042918
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
SAP
|
165 |
199 |
1.3e-7 |
SMART |
low complexity region
|
200 |
213 |
N/A |
INTRINSIC |
low complexity region
|
255 |
297 |
N/A |
INTRINSIC |
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
low complexity region
|
347 |
372 |
N/A |
INTRINSIC |
low complexity region
|
385 |
399 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210213
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210988
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211533
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211418
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation exhibit complete embryonic lethality during organogenesis associated with a failure in cardiovascular development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
T |
C |
14: 44,401,302 (GRCm39) |
|
probably benign |
Het |
AI661453 |
C |
A |
17: 47,779,442 (GRCm39) |
|
probably benign |
Het |
Arhgap29 |
G |
A |
3: 121,807,977 (GRCm39) |
V1052I |
probably benign |
Het |
Arhgef17 |
A |
G |
7: 100,577,862 (GRCm39) |
S1029P |
probably benign |
Het |
Arpc5l |
T |
C |
2: 38,898,226 (GRCm39) |
S7P |
probably damaging |
Het |
Asf1b |
A |
G |
8: 84,682,533 (GRCm39) |
I26V |
probably benign |
Het |
Cep95 |
T |
C |
11: 106,697,197 (GRCm39) |
L240P |
probably damaging |
Het |
Cnmd |
A |
G |
14: 79,879,508 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
T |
A |
6: 102,180,846 (GRCm39) |
N783I |
probably damaging |
Het |
Col6a2 |
C |
A |
10: 76,440,676 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
T |
C |
4: 120,907,607 (GRCm39) |
|
probably null |
Het |
Cry2 |
T |
C |
2: 92,254,977 (GRCm39) |
E126G |
probably benign |
Het |
Cxcl15 |
T |
C |
5: 90,942,467 (GRCm39) |
V13A |
possibly damaging |
Het |
Dbr1 |
A |
G |
9: 99,465,952 (GRCm39) |
D510G |
probably benign |
Het |
Dct |
A |
G |
14: 118,271,655 (GRCm39) |
F392L |
probably damaging |
Het |
Dgkz |
A |
G |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
Dhrs7b |
A |
G |
11: 60,721,541 (GRCm39) |
I2V |
probably benign |
Het |
Efnb3 |
A |
T |
11: 69,447,730 (GRCm39) |
|
probably null |
Het |
Fbf1 |
T |
A |
11: 116,041,846 (GRCm39) |
R565S |
probably null |
Het |
Gimap5 |
T |
C |
6: 48,729,727 (GRCm39) |
I99T |
probably damaging |
Het |
Gm9912 |
A |
G |
3: 148,891,085 (GRCm39) |
L16P |
unknown |
Het |
Gpr17 |
A |
G |
18: 32,080,187 (GRCm39) |
L292P |
probably damaging |
Het |
Hdac10 |
C |
T |
15: 89,011,801 (GRCm39) |
V129M |
probably damaging |
Het |
Mfap3l |
A |
G |
8: 61,124,498 (GRCm39) |
I247V |
possibly damaging |
Het |
Mtus1 |
A |
T |
8: 41,537,457 (GRCm39) |
S86R |
probably damaging |
Het |
Mylk3 |
A |
G |
8: 86,085,890 (GRCm39) |
S55P |
possibly damaging |
Het |
Nol6 |
A |
T |
4: 41,118,567 (GRCm39) |
C745S |
probably damaging |
Het |
Nudt13 |
A |
T |
14: 20,356,385 (GRCm39) |
E103D |
probably damaging |
Het |
Or10ag59 |
A |
G |
2: 87,405,806 (GRCm39) |
Y126C |
probably damaging |
Het |
Or1e35 |
A |
G |
11: 73,798,261 (GRCm39) |
I19T |
possibly damaging |
Het |
Pdzk1 |
G |
T |
3: 96,764,687 (GRCm39) |
A324S |
probably benign |
Het |
Pofut2 |
T |
C |
10: 77,096,515 (GRCm39) |
V80A |
possibly damaging |
Het |
Rnf10 |
T |
A |
5: 115,389,161 (GRCm39) |
K273* |
probably null |
Het |
Slc4a9 |
A |
G |
18: 36,672,828 (GRCm39) |
M811V |
possibly damaging |
Het |
Smchd1 |
T |
C |
17: 71,751,015 (GRCm39) |
D301G |
probably damaging |
Het |
Tm9sf2 |
A |
T |
14: 122,380,883 (GRCm39) |
T159S |
probably benign |
Het |
Tom1l1 |
G |
A |
11: 90,540,687 (GRCm39) |
P327S |
probably damaging |
Het |
Trim3 |
A |
G |
7: 105,267,689 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
A |
C |
19: 18,807,691 (GRCm39) |
|
probably benign |
Het |
Ttc13 |
A |
C |
8: 125,415,621 (GRCm39) |
L245R |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,713,118 (GRCm39) |
V60E |
probably damaging |
Het |
Ung |
T |
A |
5: 114,274,447 (GRCm39) |
D173E |
probably benign |
Het |
Zbtb5 |
A |
G |
4: 44,995,294 (GRCm39) |
V30A |
probably damaging |
Het |
|
Other mutations in Rasip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01958:Rasip1
|
APN |
7 |
45,286,188 (GRCm39) |
nonsense |
probably null |
|
R0208:Rasip1
|
UTSW |
7 |
45,281,999 (GRCm39) |
missense |
probably damaging |
0.97 |
R0373:Rasip1
|
UTSW |
7 |
45,284,668 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0869:Rasip1
|
UTSW |
7 |
45,284,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R0870:Rasip1
|
UTSW |
7 |
45,284,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R0871:Rasip1
|
UTSW |
7 |
45,284,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R0872:Rasip1
|
UTSW |
7 |
45,284,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R1388:Rasip1
|
UTSW |
7 |
45,279,656 (GRCm39) |
missense |
probably damaging |
0.98 |
R1780:Rasip1
|
UTSW |
7 |
45,284,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2348:Rasip1
|
UTSW |
7 |
45,278,507 (GRCm39) |
critical splice donor site |
probably null |
|
R2517:Rasip1
|
UTSW |
7 |
45,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R4587:Rasip1
|
UTSW |
7 |
45,282,159 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4678:Rasip1
|
UTSW |
7 |
45,277,247 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4679:Rasip1
|
UTSW |
7 |
45,277,247 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4714:Rasip1
|
UTSW |
7 |
45,281,820 (GRCm39) |
frame shift |
probably null |
|
R5572:Rasip1
|
UTSW |
7 |
45,286,153 (GRCm39) |
missense |
probably benign |
0.00 |
R6182:Rasip1
|
UTSW |
7 |
45,277,879 (GRCm39) |
small deletion |
probably benign |
|
R7443:Rasip1
|
UTSW |
7 |
45,288,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R7769:Rasip1
|
UTSW |
7 |
45,278,239 (GRCm39) |
missense |
probably damaging |
0.98 |
R8146:Rasip1
|
UTSW |
7 |
45,279,704 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8158:Rasip1
|
UTSW |
7 |
45,281,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R8493:Rasip1
|
UTSW |
7 |
45,284,467 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9047:Rasip1
|
UTSW |
7 |
45,282,066 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9352:Rasip1
|
UTSW |
7 |
45,278,280 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9679:Rasip1
|
UTSW |
7 |
45,277,327 (GRCm39) |
missense |
possibly damaging |
0.85 |
X0018:Rasip1
|
UTSW |
7 |
45,288,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2014-05-07 |