Incidental Mutation 'R2348:Rasip1'
| ID |
246028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasip1
|
| Ensembl Gene |
ENSMUSG00000044562 |
| Gene Name |
Ras interacting protein 1 |
| Synonyms |
Rain, 2610025P08Rik |
| MMRRC Submission |
040330-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2348 (G1)
|
| Quality Score |
169 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45276961-45288516 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 45278507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033100]
[ENSMUST00000057927]
[ENSMUST00000057927]
|
| AlphaFold |
Q3U0S6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033100
|
| SMART Domains |
Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
13 |
N/A |
INTRINSIC |
|
Pfam:IZUMO
|
21 |
166 |
2.6e-53 |
PFAM |
|
IG
|
167 |
253 |
2.43e-2 |
SMART |
|
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000057927
|
| SMART Domains |
Protein: ENSMUSP00000062429
Gene: ENSMUSG00000044562
| 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 null
Transcript: ENSMUST00000057927
|
| SMART Domains |
Protein: ENSMUSP00000062429
Gene: ENSMUSG00000044562
| 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 |
noncoding transcript
Transcript: ENSMUST00000209590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211418
|
| Meta Mutation Damage Score |
0.9377 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (31/31) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1 |
A |
G |
17: 93,509,702 (GRCm39) |
D51G |
possibly damaging |
Het |
| Ano3 |
A |
G |
2: 110,614,088 (GRCm39) |
I205T |
possibly damaging |
Het |
| Arhgap10 |
A |
T |
8: 78,177,555 (GRCm39) |
|
probably benign |
Het |
| Asb18 |
T |
G |
1: 89,942,256 (GRCm39) |
D15A |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,403,568 (GRCm39) |
S1368I |
possibly damaging |
Het |
| Atp9a |
A |
T |
2: 168,552,746 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,062,573 (GRCm39) |
V653A |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,917,017 (GRCm39) |
S304T |
probably benign |
Het |
| Dennd4c |
G |
A |
4: 86,729,764 (GRCm39) |
V789I |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,543,126 (GRCm39) |
D176E |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,090,840 (GRCm39) |
T747A |
probably benign |
Het |
| Htr2a |
A |
T |
14: 74,882,550 (GRCm39) |
N179Y |
probably damaging |
Het |
| Ift52 |
T |
C |
2: 162,887,177 (GRCm39) |
V393A |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,050,998 (GRCm39) |
S562P |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,616,183 (GRCm39) |
S457P |
probably benign |
Het |
| Kiss1r |
G |
T |
10: 79,757,654 (GRCm39) |
R336L |
probably benign |
Het |
| Klra13-ps |
A |
T |
6: 130,268,271 (GRCm39) |
|
noncoding transcript |
Het |
| Krt8 |
T |
C |
15: 101,907,300 (GRCm39) |
D261G |
probably benign |
Het |
| Mycl |
A |
T |
4: 122,890,745 (GRCm39) |
T144S |
probably benign |
Het |
| Naip5 |
C |
T |
13: 100,356,246 (GRCm39) |
R1123K |
probably benign |
Het |
| Or5b122 |
A |
T |
19: 13,563,553 (GRCm39) |
E295V |
probably damaging |
Het |
| Rc3h1 |
C |
A |
1: 160,778,430 (GRCm39) |
R452S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,461 (GRCm39) |
K258N |
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,683,664 (GRCm39) |
S29P |
probably damaging |
Het |
| Zfp457 |
T |
A |
13: 67,441,468 (GRCm39) |
D369V |
probably benign |
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 |
|
|
IGL01995:Rasip1
|
APN |
7 |
45,286,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACTACAAGAGCGTGCTG -3'
(R):5'- GAGTCTTCCCACTCTGTGTG -3'
Sequencing Primer
(F):5'- ACTACAAGAGCGTGCTGGCTAC -3'
(R):5'- TGTGCCCTGCCACCAGAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation