Incidental Mutation 'R4260:Raph1'
| ID |
322592 |
| 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 |
041073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R4260 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60542124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 330
(M330K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
|
| AlphaFold |
F2Z3U3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027168
AA Change: M330K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: M330K
| 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: M330K
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: M330K
| 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: M278K
|
| SMART Domains |
Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: M278K
| 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: ENSMUST00000189383
|
| Meta Mutation Damage Score |
0.4891 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (50/51) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
G |
A |
18: 80,180,742 (GRCm39) |
S52L |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,860,131 (GRCm39) |
M464L |
probably benign |
Het |
| Ccdc83 |
T |
G |
7: 89,877,599 (GRCm39) |
D281A |
possibly damaging |
Het |
| Ccnf |
G |
A |
17: 24,445,741 (GRCm39) |
P502S |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,543,745 (GRCm39) |
S96R |
possibly damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cntnap5a |
G |
T |
1: 116,374,325 (GRCm39) |
A946S |
probably benign |
Het |
| Csnk2a2 |
A |
T |
8: 96,184,027 (GRCm39) |
D177E |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,468,019 (GRCm39) |
S551P |
probably damaging |
Het |
| Degs1 |
A |
T |
1: 182,106,806 (GRCm39) |
I151N |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Eif2ak3 |
G |
A |
6: 70,866,497 (GRCm39) |
R597H |
probably damaging |
Het |
| Epg5 |
A |
T |
18: 78,002,336 (GRCm39) |
H585L |
possibly damaging |
Het |
| Epg5 |
G |
C |
18: 78,058,914 (GRCm39) |
W1889C |
probably damaging |
Het |
| Fam220a |
G |
C |
5: 143,548,762 (GRCm39) |
R58P |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,059,185 (GRCm39) |
A32V |
probably damaging |
Het |
| Gm11189 |
A |
C |
11: 53,091,703 (GRCm39) |
|
noncoding transcript |
Het |
| Grb2 |
A |
G |
11: 115,540,642 (GRCm39) |
I85T |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
| Kel |
A |
T |
6: 41,663,357 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,689,597 (GRCm39) |
T527K |
probably damaging |
Het |
| Klra10 |
A |
G |
6: 130,249,644 (GRCm39) |
W214R |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,186,876 (GRCm39) |
|
probably benign |
Het |
| Mrpl4 |
A |
G |
9: 20,918,988 (GRCm39) |
E211G |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,850 (GRCm39) |
|
noncoding transcript |
Het |
| Or52n5 |
A |
C |
7: 104,587,803 (GRCm39) |
E23D |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,860,186 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,627 (GRCm39) |
|
probably null |
Het |
| Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,733,234 (GRCm39) |
M802T |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,280 (GRCm39) |
F909S |
possibly damaging |
Het |
| Rprd1a |
G |
A |
18: 24,621,352 (GRCm39) |
R276C |
possibly damaging |
Het |
| Scg3 |
A |
G |
9: 75,558,979 (GRCm39) |
Y406H |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,234,808 (GRCm39) |
S965F |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Spata17 |
T |
A |
1: 186,780,677 (GRCm39) |
T357S |
possibly damaging |
Het |
| Tmt1a |
A |
G |
15: 100,210,951 (GRCm39) |
D141G |
probably benign |
Het |
| Zap70 |
T |
A |
1: 36,818,189 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
G |
A |
4: 147,668,029 (GRCm39) |
C299Y |
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 |
|
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 |
|
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'- TGACTATGAAGGTTCAGGGTTACAC -3'
(R):5'- AGGGCTTAAAACTTACTTAGGTAGG -3'
Sequencing Primer
(F):5'- TCAGGGTTACACAGATGCTG -3'
(R):5'- GTAGTAGTGTCAGAGTAGTCA -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation