Incidental Mutation 'R1740:Raph1'
ID |
200246 |
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 |
039772-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R1740 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 60558183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 258
(K258*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087763
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
|
AlphaFold |
F2Z3U3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027168
AA Change: K258*
|
SMART Domains |
Protein: ENSMUSP00000027168 Gene: ENSMUSG00000026014 AA Change: K258*
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 null
Transcript: ENSMUST00000090293
AA Change: K258*
|
SMART Domains |
Protein: ENSMUSP00000087763 Gene: ENSMUSG00000026014 AA Change: K258*
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 |
noncoding transcript
Transcript: ENSMUST00000122243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127573
|
SMART Domains |
Protein: ENSMUSP00000114596 Gene: ENSMUSG00000026014
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 |
probably benign
Transcript: ENSMUST00000140485
|
SMART Domains |
Protein: ENSMUSP00000121023 Gene: ENSMUSG00000026014
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 |
|
Meta Mutation Damage Score |
0.9632 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
Validation Efficiency |
99% (69/70) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,275,549 (GRCm39) |
C417* |
probably null |
Het |
4930548G14Rik |
G |
A |
15: 46,488,885 (GRCm39) |
|
noncoding transcript |
Het |
Abcc12 |
T |
A |
8: 87,232,126 (GRCm39) |
K1311* |
probably null |
Het |
Abcc12 |
T |
C |
8: 87,236,400 (GRCm39) |
D1138G |
possibly damaging |
Het |
Adam32 |
A |
G |
8: 25,411,314 (GRCm39) |
S116P |
probably damaging |
Het |
Arhgef26 |
C |
T |
3: 62,331,004 (GRCm39) |
L39F |
probably damaging |
Het |
Babam1 |
T |
C |
8: 71,855,663 (GRCm39) |
I252T |
probably damaging |
Het |
Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
Ccdc61 |
G |
T |
7: 18,637,862 (GRCm39) |
|
probably benign |
Het |
Ccdc89 |
C |
T |
7: 90,075,946 (GRCm39) |
S52F |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,144,133 (GRCm39) |
I320N |
possibly damaging |
Het |
Cebpe |
T |
C |
14: 54,949,399 (GRCm39) |
Y6C |
probably damaging |
Het |
Cep250 |
T |
A |
2: 155,815,276 (GRCm39) |
I598N |
probably damaging |
Het |
Cep350 |
T |
A |
1: 155,804,579 (GRCm39) |
I835F |
probably damaging |
Het |
Ces3a |
T |
C |
8: 105,775,317 (GRCm39) |
L22P |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,873,558 (GRCm39) |
S490G |
probably benign |
Het |
Cyp2j11 |
A |
G |
4: 96,207,613 (GRCm39) |
V234A |
probably benign |
Het |
Dgat1 |
T |
C |
15: 76,386,929 (GRCm39) |
H399R |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,850,254 (GRCm39) |
|
probably null |
Het |
Ebpl |
T |
G |
14: 61,578,656 (GRCm39) |
K193T |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,443,545 (GRCm39) |
N66S |
probably benign |
Het |
Fcgbp |
G |
T |
7: 27,800,674 (GRCm39) |
G1240V |
possibly damaging |
Het |
Gabra5 |
A |
G |
7: 57,071,590 (GRCm39) |
S209P |
probably benign |
Het |
Glce |
A |
T |
9: 61,977,815 (GRCm39) |
V23D |
probably damaging |
Het |
Gm14226 |
GACTGTTAC |
GAC |
2: 154,866,851 (GRCm39) |
|
probably benign |
Het |
Gtf2h1 |
A |
G |
7: 46,461,890 (GRCm39) |
N296S |
probably null |
Het |
Herc6 |
T |
C |
6: 57,629,050 (GRCm39) |
S654P |
probably benign |
Het |
Kcnk3 |
A |
T |
5: 30,779,321 (GRCm39) |
M124L |
possibly damaging |
Het |
Lamb2 |
T |
G |
9: 108,359,127 (GRCm39) |
V281G |
probably damaging |
Het |
Lctl |
A |
T |
9: 64,040,389 (GRCm39) |
D444V |
probably damaging |
Het |
Mcm2 |
A |
G |
6: 88,861,026 (GRCm39) |
F891L |
probably damaging |
Het |
Mcub |
A |
T |
3: 129,712,376 (GRCm39) |
H166Q |
probably benign |
Het |
Mical2 |
G |
T |
7: 111,933,043 (GRCm39) |
R739L |
probably benign |
Het |
Mideas |
T |
C |
12: 84,219,676 (GRCm39) |
E426G |
probably damaging |
Het |
Mkrn2 |
G |
T |
6: 115,590,330 (GRCm39) |
A229S |
probably damaging |
Het |
Mmp7 |
A |
G |
9: 7,695,278 (GRCm39) |
Y80C |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,953,222 (GRCm39) |
|
probably null |
Het |
Msh6 |
C |
A |
17: 88,293,150 (GRCm39) |
T635K |
possibly damaging |
Het |
Mvd |
T |
A |
8: 123,163,286 (GRCm39) |
T315S |
probably benign |
Het |
Myocd |
C |
T |
11: 65,109,347 (GRCm39) |
|
probably benign |
Het |
Nav1 |
C |
T |
1: 135,386,127 (GRCm39) |
|
probably null |
Het |
Or4k48 |
T |
A |
2: 111,476,214 (GRCm39) |
I43F |
probably damaging |
Het |
Pde4b |
A |
T |
4: 102,344,548 (GRCm39) |
D141V |
probably damaging |
Het |
Pdgfrb |
A |
T |
18: 61,214,905 (GRCm39) |
D978V |
possibly damaging |
Het |
Prss55 |
T |
C |
14: 64,313,129 (GRCm39) |
T252A |
probably damaging |
Het |
Psd3 |
A |
T |
8: 68,573,491 (GRCm39) |
V230E |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
Ptprn |
A |
G |
1: 75,238,694 (GRCm39) |
V82A |
probably damaging |
Het |
Ptpru |
G |
T |
4: 131,520,989 (GRCm39) |
|
probably null |
Het |
Rnf25 |
A |
G |
1: 74,637,886 (GRCm39) |
V28A |
probably damaging |
Het |
Slc25a4 |
C |
T |
8: 46,661,540 (GRCm39) |
V212M |
probably benign |
Het |
Slc39a3 |
T |
C |
10: 80,867,342 (GRCm39) |
S135G |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,356,097 (GRCm39) |
I220M |
probably damaging |
Het |
Smim19 |
G |
T |
8: 22,963,544 (GRCm39) |
Y21* |
probably null |
Het |
Speer4f1 |
A |
C |
5: 17,683,759 (GRCm39) |
Y141S |
probably damaging |
Het |
Srgap2 |
G |
A |
1: 131,217,126 (GRCm39) |
P1062L |
probably benign |
Het |
Stra8 |
A |
T |
6: 34,904,654 (GRCm39) |
|
probably benign |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tmem40 |
A |
G |
6: 115,715,960 (GRCm39) |
S76P |
probably benign |
Het |
Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
Vmn1r128 |
A |
T |
7: 21,083,869 (GRCm39) |
Q191L |
probably benign |
Het |
Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTAGAATCTAATGTGAAGCTCCACAGC -3'
(R):5'- GCATACACTGCTTCTGGACAACATGG -3'
Sequencing Primer
(F):5'- tttgtttgtttgtttgcttgtttg -3'
(R):5'- CAACATGGCTGCGAAGGTC -3'
|
Posted On |
2014-05-23 |