Incidental Mutation 'R9561:Raph1'
ID |
720985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Raph1
|
Ensembl Gene |
ENSMUSG00000026014 |
Gene Name |
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 |
Synonyms |
C730009O10Rik, lamellipodin, 9430025M21Rik, Lpd |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R9561 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60564887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 200
(E200G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120638
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
[ENSMUST00000142258]
|
AlphaFold |
F2Z3U3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027168
AA Change: E200G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027168 Gene: ENSMUSG00000026014 AA Change: E200G
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
RA
|
322 |
408 |
1.63e-13 |
SMART |
PH
|
450 |
560 |
3.38e-11 |
SMART |
low complexity region
|
581 |
604 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090293
AA Change: E200G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087763 Gene: ENSMUSG00000026014 AA Change: E200G
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
RA
|
322 |
408 |
1.63e-13 |
SMART |
PH
|
450 |
560 |
3.38e-11 |
SMART |
low complexity region
|
581 |
604 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140485
AA Change: E200G
|
SMART Domains |
Protein: ENSMUSP00000121023 Gene: ENSMUSG00000026014 AA Change: E200G
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
RA
|
270 |
356 |
1.63e-13 |
SMART |
PH
|
398 |
508 |
3.38e-11 |
SMART |
low complexity region
|
529 |
552 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142258
AA Change: E200G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000120638 Gene: ENSMUSG00000026014 AA Change: E200G
Domain | Start | End | E-Value | Type |
low complexity region
|
202 |
212 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a conditional allele activated in all cells exhibit background sensitive neonatal or postnatal lethality, decreased body size, belly spotting and decreased melanocyte numbers in the trunk. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,680,980 (GRCm39) |
I106V |
possibly damaging |
Het |
Aars1 |
C |
A |
8: 111,763,615 (GRCm39) |
F18L |
probably damaging |
Het |
Abca7 |
C |
T |
10: 79,837,535 (GRCm39) |
T473I |
probably damaging |
Het |
Ap1m2 |
A |
T |
9: 21,209,524 (GRCm39) |
I384N |
probably damaging |
Het |
Atg16l2 |
G |
A |
7: 100,948,248 (GRCm39) |
Q99* |
probably null |
Het |
Bptf |
A |
T |
11: 106,964,954 (GRCm39) |
Y1413* |
probably null |
Het |
Cat |
T |
C |
2: 103,307,250 (GRCm39) |
T28A |
probably damaging |
Het |
Ccdc65 |
T |
A |
15: 98,620,759 (GRCm39) |
V418D |
probably benign |
Het |
Cd226 |
A |
C |
18: 89,265,444 (GRCm39) |
I241L |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,873,428 (GRCm39) |
S1227P |
probably benign |
Het |
Csn2 |
C |
T |
5: 87,842,794 (GRCm39) |
A78T |
probably benign |
Het |
Cyp21a1 |
T |
A |
17: 35,021,652 (GRCm39) |
H305L |
possibly damaging |
Het |
Ddx55 |
A |
G |
5: 124,706,707 (GRCm39) |
E572G |
possibly damaging |
Het |
Dguok |
A |
G |
6: 83,467,548 (GRCm39) |
Y100H |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,615,533 (GRCm39) |
S2955R |
probably damaging |
Het |
Etfbkmt |
A |
T |
6: 149,045,640 (GRCm39) |
|
probably benign |
Het |
Fam222a |
T |
A |
5: 114,749,347 (GRCm39) |
I181N |
probably damaging |
Het |
Fam24b |
T |
C |
7: 130,927,877 (GRCm39) |
D104G |
probably benign |
Het |
Fbn2 |
A |
T |
18: 58,181,611 (GRCm39) |
C1883* |
probably null |
Het |
Fchsd2 |
T |
G |
7: 100,920,778 (GRCm39) |
L461R |
probably benign |
Het |
Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,472,532 (GRCm39) |
R2756Q |
possibly damaging |
Het |
Ints14 |
A |
G |
9: 64,882,932 (GRCm39) |
D261G |
probably damaging |
Het |
Mapkapk5 |
C |
T |
5: 121,672,490 (GRCm39) |
A163T |
probably benign |
Het |
Micu3 |
A |
T |
8: 40,835,156 (GRCm39) |
K504* |
probably null |
Het |
Myh1 |
C |
G |
11: 67,108,618 (GRCm39) |
H1345D |
possibly damaging |
Het |
Myh7 |
C |
A |
14: 55,216,146 (GRCm39) |
R1289L |
probably damaging |
Het |
Neb |
G |
T |
2: 52,132,068 (GRCm39) |
H280Q |
|
Het |
Nrbp1 |
T |
A |
5: 31,404,771 (GRCm39) |
|
probably null |
Het |
Oacyl |
T |
A |
18: 65,831,414 (GRCm39) |
V17D |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,480,157 (GRCm39) |
R463L |
possibly damaging |
Het |
Or1f19 |
T |
A |
16: 3,410,725 (GRCm39) |
L155Q |
probably damaging |
Het |
Or8b40 |
G |
A |
9: 38,028,010 (GRCm39) |
S311N |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,217,128 (GRCm39) |
C2184* |
probably null |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Phrf1 |
T |
G |
7: 140,834,815 (GRCm39) |
S198A |
unknown |
Het |
Plekhg2 |
C |
G |
7: 28,064,249 (GRCm39) |
A431P |
probably damaging |
Het |
Ppp1r13b |
C |
T |
12: 111,810,077 (GRCm39) |
D244N |
probably damaging |
Het |
Rnf6 |
A |
G |
5: 146,147,936 (GRCm39) |
S361P |
probably benign |
Het |
Scgb2b19 |
G |
A |
7: 32,978,039 (GRCm39) |
A86V |
probably benign |
Het |
Sec23b |
T |
A |
2: 144,408,728 (GRCm39) |
C138S |
possibly damaging |
Het |
Slco1c1 |
T |
C |
6: 141,505,606 (GRCm39) |
S511P |
possibly damaging |
Het |
Tas2r130 |
A |
G |
6: 131,607,175 (GRCm39) |
S207P |
probably damaging |
Het |
Tdpoz1 |
A |
T |
3: 93,578,540 (GRCm39) |
H81Q |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,578,414 (GRCm39) |
K289E |
probably damaging |
Het |
Vmn1r18 |
A |
C |
6: 57,367,202 (GRCm39) |
N117K |
probably benign |
Het |
Vps13c |
G |
T |
9: 67,872,794 (GRCm39) |
G3270V |
probably damaging |
Het |
Wdr20 |
A |
G |
12: 110,760,187 (GRCm39) |
T358A |
probably benign |
Het |
Wwc1 |
A |
C |
11: 35,870,796 (GRCm39) |
|
probably null |
Het |
Yars2 |
G |
T |
16: 16,127,242 (GRCm39) |
V436L |
possibly damaging |
Het |
Zfp609 |
G |
A |
9: 65,604,512 (GRCm39) |
Q1324* |
probably null |
Het |
Zfp81 |
T |
C |
17: 33,553,774 (GRCm39) |
T347A |
probably benign |
Het |
Zgpat |
T |
C |
2: 181,021,366 (GRCm39) |
V292A |
probably benign |
Het |
|
Other mutations in Raph1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02300:Raph1
|
APN |
1 |
60,565,106 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02900:Raph1
|
APN |
1 |
60,542,022 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4976:Raph1
|
UTSW |
1 |
60,528,426 (GRCm39) |
intron |
probably benign |
|
R0048:Raph1
|
UTSW |
1 |
60,539,764 (GRCm39) |
missense |
probably benign |
0.03 |
R0048:Raph1
|
UTSW |
1 |
60,539,764 (GRCm39) |
missense |
probably benign |
0.03 |
R0049:Raph1
|
UTSW |
1 |
60,565,058 (GRCm39) |
missense |
probably benign |
0.03 |
R0049:Raph1
|
UTSW |
1 |
60,565,058 (GRCm39) |
missense |
probably benign |
0.03 |
R0227:Raph1
|
UTSW |
1 |
60,565,136 (GRCm39) |
missense |
probably benign |
0.00 |
R0387:Raph1
|
UTSW |
1 |
60,549,655 (GRCm39) |
intron |
probably benign |
|
R0607:Raph1
|
UTSW |
1 |
60,565,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R1740:Raph1
|
UTSW |
1 |
60,558,183 (GRCm39) |
nonsense |
probably null |
|
R2274:Raph1
|
UTSW |
1 |
60,537,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R3108:Raph1
|
UTSW |
1 |
60,532,545 (GRCm39) |
missense |
probably benign |
0.01 |
R3977:Raph1
|
UTSW |
1 |
60,537,682 (GRCm39) |
missense |
probably benign |
0.39 |
R4260:Raph1
|
UTSW |
1 |
60,542,124 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4487:Raph1
|
UTSW |
1 |
60,542,028 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4721:Raph1
|
UTSW |
1 |
60,542,160 (GRCm39) |
unclassified |
probably benign |
|
R4782:Raph1
|
UTSW |
1 |
60,528,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Raph1
|
UTSW |
1 |
60,535,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R5037:Raph1
|
UTSW |
1 |
60,535,381 (GRCm39) |
splice site |
probably null |
|
R5106:Raph1
|
UTSW |
1 |
60,572,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R5506:Raph1
|
UTSW |
1 |
60,532,657 (GRCm39) |
intron |
probably benign |
|
R5510:Raph1
|
UTSW |
1 |
60,562,105 (GRCm39) |
unclassified |
probably benign |
|
R5587:Raph1
|
UTSW |
1 |
60,537,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R5591:Raph1
|
UTSW |
1 |
60,540,905 (GRCm39) |
unclassified |
probably benign |
|
R5619:Raph1
|
UTSW |
1 |
60,529,414 (GRCm39) |
intron |
probably benign |
|
R5776:Raph1
|
UTSW |
1 |
60,529,315 (GRCm39) |
intron |
probably benign |
|
R5802:Raph1
|
UTSW |
1 |
60,527,832 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6742:Raph1
|
UTSW |
1 |
60,564,879 (GRCm39) |
missense |
probably damaging |
0.97 |
R7122:Raph1
|
UTSW |
1 |
60,565,136 (GRCm39) |
missense |
probably benign |
0.10 |
R7219:Raph1
|
UTSW |
1 |
60,542,032 (GRCm39) |
missense |
unknown |
|
R7251:Raph1
|
UTSW |
1 |
60,529,027 (GRCm39) |
missense |
unknown |
|
R7254:Raph1
|
UTSW |
1 |
60,538,767 (GRCm39) |
missense |
unknown |
|
R7732:Raph1
|
UTSW |
1 |
60,572,447 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7979:Raph1
|
UTSW |
1 |
60,565,148 (GRCm39) |
missense |
probably benign |
0.00 |
R7986:Raph1
|
UTSW |
1 |
60,535,445 (GRCm39) |
missense |
|
|
R8167:Raph1
|
UTSW |
1 |
60,529,270 (GRCm39) |
missense |
unknown |
|
R8168:Raph1
|
UTSW |
1 |
60,538,779 (GRCm39) |
missense |
unknown |
|
R8399:Raph1
|
UTSW |
1 |
60,528,477 (GRCm39) |
missense |
unknown |
|
R9036:Raph1
|
UTSW |
1 |
60,542,124 (GRCm39) |
missense |
unknown |
|
R9146:Raph1
|
UTSW |
1 |
60,558,137 (GRCm39) |
critical splice donor site |
probably null |
|
R9338:Raph1
|
UTSW |
1 |
60,529,300 (GRCm39) |
missense |
unknown |
|
R9381:Raph1
|
UTSW |
1 |
60,540,959 (GRCm39) |
missense |
unknown |
|
R9383:Raph1
|
UTSW |
1 |
60,564,829 (GRCm39) |
missense |
unknown |
|
R9399:Raph1
|
UTSW |
1 |
60,565,154 (GRCm39) |
missense |
probably benign |
|
R9454:Raph1
|
UTSW |
1 |
60,528,753 (GRCm39) |
missense |
unknown |
|
RF018:Raph1
|
UTSW |
1 |
60,528,426 (GRCm39) |
intron |
probably benign |
|
RF022:Raph1
|
UTSW |
1 |
60,528,426 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCATTTCTCTGCATTTTAAGG -3'
(R):5'- AAACATGGCACCCTGAGAGG -3'
Sequencing Primer
(F):5'- CTGCATTTTAAGGCCAAAATAACAG -3'
(R):5'- AGAGGACCGTCATCTTCCTCTAATAG -3'
|
Posted On |
2022-08-09 |