Incidental Mutation 'R1388:Rasip1'
| ID |
162495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasip1
|
| Ensembl Gene |
ENSMUSG00000044562 |
| Gene Name |
Ras interacting protein 1 |
| Synonyms |
Rain, 2610025P08Rik |
| MMRRC Submission |
039450-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1388 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45276961-45288516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45279656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 300
(S300T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033100]
[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 damaging
Transcript: ENSMUST00000057927
AA Change: S300T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062429
Gene: ENSMUSG00000044562
AA Change: S300T
| 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 |
0.1708 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
| Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
| Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
| Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
| Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
| Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
| Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
| Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
| Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
| Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
| Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGGCAAAACCAATGTCCAGAG -3'
(R):5'- AGTGCTAACCTGAGCATCCTGGTAG -3'
Sequencing Primer
(F):5'- CAATGTCCAGAGTTAACAGTCTGTG -3'
(R):5'- TGAGTCAACTGATCGAAGTCTCC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation