Incidental Mutation 'R0048:Raph1'
ID |
16220 |
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 |
038342-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R0048 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60539764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 423
(K423E)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
|
AlphaFold |
F2Z3U3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027168
AA Change: K423E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000027168 Gene: ENSMUSG00000026014 AA Change: K423E
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 |
probably benign
Transcript: ENSMUST00000090293
AA Change: K423E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000087763 Gene: ENSMUSG00000026014 AA Change: K423E
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 |
probably benign
Transcript: ENSMUST00000127573
AA Change: K423E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000114596 Gene: ENSMUSG00000026014 AA Change: K423E
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
coiled coil region
|
295 |
320 |
N/A |
INTRINSIC |
RA
|
322 |
408 |
1e-15 |
SMART |
PH
|
450 |
560 |
1.6e-13 |
SMART |
low complexity region
|
581 |
604 |
N/A |
INTRINSIC |
low complexity region
|
656 |
661 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140485
AA Change: K371E
|
SMART Domains |
Protein: ENSMUSP00000121023 Gene: ENSMUSG00000026014 AA Change: K371E
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 |
probably benign
Transcript: ENSMUST00000182085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188511
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189383
|
Meta Mutation Damage Score |
0.0618 |
Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.7%
- 10x: 82.5%
- 20x: 75.5%
|
Validation Efficiency |
94% (92/98) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,112,371 (GRCm39) |
E715G |
probably damaging |
Het |
Arid1b |
T |
C |
17: 5,364,309 (GRCm39) |
|
probably null |
Het |
Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
Btaf1 |
G |
T |
19: 36,980,924 (GRCm39) |
A1582S |
probably benign |
Het |
Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
Ccdc184 |
G |
A |
15: 98,066,341 (GRCm39) |
A49T |
probably damaging |
Het |
Cd109 |
A |
C |
9: 78,587,303 (GRCm39) |
Y657S |
possibly damaging |
Het |
Cfap53 |
A |
T |
18: 74,432,244 (GRCm39) |
Y44F |
probably benign |
Het |
Cped1 |
T |
A |
6: 22,119,601 (GRCm39) |
N353K |
probably benign |
Het |
Dcaf10 |
T |
G |
4: 45,374,262 (GRCm39) |
Y562* |
probably null |
Het |
Eno4 |
T |
C |
19: 58,952,970 (GRCm39) |
M328T |
possibly damaging |
Het |
Etv3l |
T |
C |
3: 87,462,275 (GRCm39) |
|
noncoding transcript |
Het |
Eya2 |
T |
A |
2: 165,557,931 (GRCm39) |
Y176N |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
Grhl1 |
A |
T |
12: 24,662,150 (GRCm39) |
|
probably benign |
Het |
H60b |
T |
A |
10: 22,163,130 (GRCm39) |
M235K |
probably benign |
Het |
Hal |
T |
A |
10: 93,334,853 (GRCm39) |
Y395N |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
Inpp5j |
A |
G |
11: 3,451,417 (GRCm39) |
V463A |
probably damaging |
Het |
Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
Jmjd4 |
C |
A |
11: 59,344,778 (GRCm39) |
H244N |
probably benign |
Het |
Klkb1 |
G |
A |
8: 45,742,233 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,496,474 (GRCm39) |
Y1578F |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,295,971 (GRCm39) |
D3379E |
probably damaging |
Het |
Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
Mblac1 |
A |
G |
5: 138,192,727 (GRCm39) |
Y23C |
probably damaging |
Het |
Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
Mtor |
C |
T |
4: 148,623,338 (GRCm39) |
Q2063* |
probably null |
Het |
Ncstn |
A |
G |
1: 171,897,528 (GRCm39) |
|
probably benign |
Het |
Nek9 |
T |
C |
12: 85,348,673 (GRCm39) |
T954A |
probably benign |
Het |
Nlrc5 |
A |
T |
8: 95,201,284 (GRCm39) |
Y126F |
possibly damaging |
Het |
Nr1d1 |
A |
G |
11: 98,661,304 (GRCm39) |
S321P |
probably benign |
Het |
Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
Pkn2 |
T |
C |
3: 142,516,588 (GRCm39) |
I513V |
probably damaging |
Het |
Pls1 |
T |
C |
9: 95,669,116 (GRCm39) |
E35G |
probably damaging |
Het |
Polr3a |
A |
G |
14: 24,519,323 (GRCm39) |
|
probably benign |
Het |
Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
Rabgap1l |
A |
G |
1: 160,454,939 (GRCm39) |
|
probably benign |
Het |
Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
Rbm46 |
A |
T |
3: 82,771,537 (GRCm39) |
S359R |
probably damaging |
Het |
Rhobtb3 |
A |
T |
13: 76,050,364 (GRCm39) |
*100R |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
Sgsm1 |
A |
G |
5: 113,416,616 (GRCm39) |
F629S |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
Slc12a2 |
A |
T |
18: 58,048,594 (GRCm39) |
|
probably benign |
Het |
Slc38a10 |
G |
T |
11: 120,001,138 (GRCm39) |
P561T |
probably benign |
Het |
Slc45a4 |
A |
G |
15: 73,477,285 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
Synpo2l |
A |
T |
14: 20,716,340 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,174,269 (GRCm39) |
Y846H |
probably damaging |
Het |
Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
Tigd2 |
C |
A |
6: 59,188,369 (GRCm39) |
T412K |
possibly damaging |
Het |
Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
Usp8 |
C |
T |
2: 126,579,809 (GRCm39) |
P353L |
probably damaging |
Het |
Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
Vps13a |
A |
T |
19: 16,653,504 (GRCm39) |
V1959E |
probably damaging |
Het |
Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
C |
T |
9: 96,569,729 (GRCm39) |
V452M |
probably damaging |
Het |
Zbtb41 |
A |
G |
1: 139,369,572 (GRCm39) |
K650E |
probably damaging |
Het |
Zfp532 |
A |
G |
18: 65,777,404 (GRCm39) |
Y887C |
probably damaging |
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 |
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 |
|
R9561:Raph1
|
UTSW |
1 |
60,564,887 (GRCm39) |
missense |
possibly damaging |
0.49 |
RF018:Raph1
|
UTSW |
1 |
60,528,426 (GRCm39) |
intron |
probably benign |
|
RF022:Raph1
|
UTSW |
1 |
60,528,426 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2013-01-08 |