Incidental Mutation 'R2274:Raph1'
| ID |
244934 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R2274 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60537659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 499
(D499G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
|
| AlphaFold |
F2Z3U3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027168
AA Change: D499G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: D499G
| 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 damaging
Transcript: ENSMUST00000090293
AA Change: D499G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: D499G
| 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 damaging
Transcript: ENSMUST00000127573
AA Change: D499G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114596
Gene: ENSMUSG00000026014
AA Change: D499G
| 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: D447G
|
| SMART Domains |
Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: D447G
| 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 |
unknown
Transcript: ENSMUST00000182085
AA Change: D35G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189383
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,667 (GRCm39) |
C59S |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,166,107 (GRCm39) |
N1556K |
possibly damaging |
Het |
| Abcb10 |
G |
T |
8: 124,709,491 (GRCm39) |
A21E |
probably benign |
Het |
| Ackr1 |
T |
C |
1: 173,160,052 (GRCm39) |
N156D |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,255,766 (GRCm39) |
S1593C |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,786,772 (GRCm39) |
|
probably null |
Het |
| Aqp4 |
A |
G |
18: 15,526,537 (GRCm39) |
S315P |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,510,848 (GRCm39) |
I433V |
probably benign |
Het |
| Bco1 |
G |
A |
8: 117,835,522 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
T |
A |
11: 94,306,762 (GRCm39) |
E1842V |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,145,986 (GRCm39) |
Q73L |
probably damaging |
Het |
| Car5a |
C |
T |
8: 122,671,408 (GRCm39) |
|
probably null |
Het |
| Cdk11b |
T |
A |
4: 155,732,051 (GRCm39) |
|
probably benign |
Het |
| Cdr2 |
A |
T |
7: 120,557,732 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Dnlz |
A |
T |
2: 26,241,483 (GRCm39) |
C82S |
probably damaging |
Het |
| Egr4 |
A |
T |
6: 85,489,725 (GRCm39) |
F112I |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,705,184 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,050,048 (GRCm39) |
V3970D |
possibly damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,394,773 (GRCm39) |
C222* |
probably null |
Het |
| Fn1 |
C |
T |
1: 71,653,102 (GRCm39) |
G1296R |
probably null |
Het |
| Ghr |
A |
G |
15: 3,349,507 (GRCm39) |
V557A |
probably benign |
Het |
| Gm11568 |
A |
G |
11: 99,749,070 (GRCm39) |
S92G |
unknown |
Het |
| Gpatch1 |
A |
T |
7: 34,988,103 (GRCm39) |
S678T |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,178,479 (GRCm39) |
|
probably null |
Het |
| Gucy2f |
A |
T |
X: 140,899,269 (GRCm39) |
M697K |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,520,653 (GRCm39) |
T195A |
probably benign |
Het |
| Hoxd1 |
A |
G |
2: 74,594,501 (GRCm39) |
K252R |
probably damaging |
Het |
| Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
| Irf8 |
A |
G |
8: 121,480,266 (GRCm39) |
E168G |
probably damaging |
Het |
| Kcnh1 |
T |
G |
1: 192,019,829 (GRCm39) |
V358G |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,696,327 (GRCm39) |
V652D |
possibly damaging |
Het |
| L3hypdh |
T |
C |
12: 72,131,632 (GRCm39) |
Y100C |
possibly damaging |
Het |
| Map4k1 |
T |
A |
7: 28,701,382 (GRCm39) |
H729Q |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,840,151 (GRCm39) |
N311K |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,368 (GRCm39) |
I321V |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,091,770 (GRCm39) |
S291L |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,081,184 (GRCm39) |
K1267E |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,895,506 (GRCm39) |
|
probably null |
Het |
| Nexmif |
T |
G |
X: 103,131,452 (GRCm39) |
E155A |
possibly damaging |
Het |
| Nkpd1 |
A |
G |
7: 19,257,822 (GRCm39) |
I534V |
probably benign |
Het |
| Nxph1 |
G |
T |
6: 9,247,746 (GRCm39) |
C239F |
probably damaging |
Het |
| Odc1 |
A |
G |
12: 17,598,425 (GRCm39) |
I189V |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,113 (GRCm39) |
N82K |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,492 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,055,167 (GRCm39) |
F70L |
probably benign |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,496 (GRCm39) |
L576P |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,647,148 (GRCm39) |
C246* |
probably null |
Het |
| Rtl1 |
T |
C |
12: 109,561,101 (GRCm39) |
E246G |
unknown |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc12a3 |
T |
A |
8: 95,059,915 (GRCm39) |
I187N |
possibly damaging |
Het |
| Slc46a1 |
T |
G |
11: 78,357,249 (GRCm39) |
S101A |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,283 (GRCm39) |
M830V |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,209,364 (GRCm39) |
|
probably null |
Het |
| St3gal6 |
T |
A |
16: 58,309,332 (GRCm39) |
E34D |
possibly damaging |
Het |
| Tcstv3 |
C |
T |
13: 120,779,190 (GRCm39) |
Q30* |
probably null |
Het |
| Tex16 |
T |
A |
X: 111,030,838 (GRCm39) |
D1112E |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,414,777 (GRCm39) |
V160I |
probably damaging |
Het |
| Tmf1 |
T |
A |
6: 97,140,547 (GRCm39) |
L776F |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,795,653 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
A |
T |
4: 80,755,771 (GRCm39) |
E180V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,846,685 (GRCm39) |
V1636A |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,818,079 (GRCm39) |
L139P |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Vmn1r49 |
G |
A |
6: 90,049,126 (GRCm39) |
T292I |
probably benign |
Het |
| Wdr19 |
T |
A |
5: 65,398,334 (GRCm39) |
M853K |
possibly damaging |
Het |
| Zkscan8 |
C |
T |
13: 21,705,966 (GRCm39) |
M265I |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTACTACAGATGAAGCTAAAATGC -3'
(R):5'- AGCAAAATGGACTGCTCTTTTGG -3'
Sequencing Primer
(F):5'- TGAAGCTAAAATGCTAGGGTTACCCC -3'
(R):5'- ACTGCTCTTTTGGTTACATTGTAGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation