Incidental Mutation 'R5106:Raph1'
ID |
392606 |
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 |
042694-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R5106 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60572459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 36
(D36G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087763
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
[ENSMUST00000142258]
|
AlphaFold |
F2Z3U3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027168
AA Change: D36G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027168 Gene: ENSMUSG00000026014 AA Change: D36G
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: D36G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087763 Gene: ENSMUSG00000026014 AA Change: D36G
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: ENSMUST00000117433
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140485
AA Change: D36G
|
SMART Domains |
Protein: ENSMUSP00000121023 Gene: ENSMUSG00000026014 AA Change: D36G
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 damaging
Transcript: ENSMUST00000142258
AA Change: D36G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120638 Gene: ENSMUSG00000026014 AA Change: D36G
Domain | Start | End | E-Value | Type |
low complexity region
|
202 |
212 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2779 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
Validation Efficiency |
100% (62/62) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C1qtnf2 |
G |
A |
11: 43,376,880 (GRCm39) |
R84Q |
possibly damaging |
Het |
Carmil2 |
T |
A |
8: 106,420,638 (GRCm39) |
|
probably null |
Het |
Cenpf |
A |
T |
1: 189,416,005 (GRCm39) |
C107S |
probably benign |
Het |
Cideb |
T |
C |
14: 55,991,982 (GRCm39) |
M191V |
probably benign |
Het |
Cope |
C |
A |
8: 70,763,097 (GRCm39) |
R213S |
possibly damaging |
Het |
Ctcf |
T |
C |
8: 106,408,130 (GRCm39) |
|
probably benign |
Het |
Daam2 |
T |
C |
17: 49,783,489 (GRCm39) |
Y647C |
probably damaging |
Het |
Dlg2 |
T |
C |
7: 92,091,894 (GRCm39) |
Y920H |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Fdps |
C |
A |
3: 89,006,710 (GRCm39) |
R127L |
probably damaging |
Het |
G6pd2 |
C |
T |
5: 61,967,695 (GRCm39) |
T490I |
probably benign |
Het |
Gm6401 |
A |
G |
14: 41,787,463 (GRCm39) |
M121T |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,947,329 (GRCm39) |
|
probably null |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtf2a1l |
A |
G |
17: 89,002,073 (GRCm39) |
S310G |
possibly damaging |
Het |
Igdcc4 |
T |
C |
9: 65,031,983 (GRCm39) |
F500L |
probably damaging |
Het |
Lgr4 |
A |
T |
2: 109,827,940 (GRCm39) |
H207L |
probably damaging |
Het |
Llcfc1 |
A |
G |
6: 41,662,310 (GRCm39) |
M105V |
probably benign |
Het |
Macroh2a1 |
A |
G |
13: 56,236,106 (GRCm39) |
V213A |
possibly damaging |
Het |
Map2k3 |
A |
G |
11: 60,832,708 (GRCm39) |
K18E |
probably damaging |
Het |
Mccc1 |
T |
A |
3: 36,026,713 (GRCm39) |
D528V |
probably benign |
Het |
Nedd4l |
C |
T |
18: 65,326,376 (GRCm39) |
T568M |
probably damaging |
Het |
Nr3c1 |
A |
C |
18: 39,619,654 (GRCm39) |
I211S |
possibly damaging |
Het |
Nudt5 |
C |
T |
2: 5,859,640 (GRCm39) |
|
probably benign |
Het |
Or2ag20 |
T |
A |
7: 106,464,595 (GRCm39) |
M136K |
probably damaging |
Het |
Or5d46 |
T |
C |
2: 88,170,454 (GRCm39) |
Y182H |
probably benign |
Het |
Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
Or9k2b |
A |
T |
10: 130,016,177 (GRCm39) |
S191T |
probably benign |
Het |
Pcid2 |
A |
T |
8: 13,129,648 (GRCm39) |
F326I |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,237,278 (GRCm39) |
I1336N |
probably damaging |
Het |
Pomk |
T |
C |
8: 26,476,404 (GRCm39) |
D50G |
probably benign |
Het |
Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,000,027 (GRCm39) |
T706A |
probably benign |
Het |
Rad54l |
G |
A |
4: 115,956,961 (GRCm39) |
|
probably benign |
Het |
Rgs7 |
A |
G |
1: 174,904,416 (GRCm39) |
S166P |
possibly damaging |
Het |
Rnf183 |
C |
G |
4: 62,346,465 (GRCm39) |
R111P |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,265,395 (GRCm39) |
D327V |
probably damaging |
Het |
Rpl3l |
A |
G |
17: 24,951,411 (GRCm39) |
Y156C |
probably damaging |
Het |
Slc25a54 |
G |
T |
3: 109,020,180 (GRCm39) |
C398F |
probably benign |
Het |
Slc39a2 |
A |
G |
14: 52,132,988 (GRCm39) |
*310W |
probably null |
Het |
Slit3 |
T |
C |
11: 35,503,194 (GRCm39) |
C464R |
probably damaging |
Het |
Smu1 |
A |
T |
4: 40,743,104 (GRCm39) |
F345I |
possibly damaging |
Het |
Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
Stxbp3 |
T |
C |
3: 108,702,243 (GRCm39) |
Y521C |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,492,356 (GRCm39) |
S1061P |
probably damaging |
Het |
Thoc5 |
T |
C |
11: 4,860,630 (GRCm39) |
S103P |
probably damaging |
Het |
Tmem221 |
A |
G |
8: 72,008,522 (GRCm39) |
F173L |
probably benign |
Het |
Trit1 |
T |
C |
4: 122,948,106 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,499,395 (GRCm39) |
|
probably null |
Het |
Vmn2r38 |
C |
A |
7: 9,078,169 (GRCm39) |
V738L |
possibly damaging |
Het |
Zfp160 |
T |
A |
17: 21,247,023 (GRCm39) |
H524Q |
probably damaging |
Het |
Zfp791 |
T |
A |
8: 85,837,259 (GRCm39) |
K202* |
probably null |
Het |
Zfp985 |
T |
A |
4: 147,668,612 (GRCm39) |
S493R |
probably damaging |
Het |
Zkscan7 |
T |
C |
9: 122,725,198 (GRCm39) |
|
probably benign |
Het |
Zwilch |
A |
C |
9: 64,060,866 (GRCm39) |
F329V |
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 |
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 |
|
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'- GACCCTATGTTTTAAAGAAGTGGTGC -3'
(R):5'- ACAGACCTTGTACTGGATGC -3'
Sequencing Primer
(F):5'- TGTCTCTACCTGAATGTACATGTAC -3'
(R):5'- AGACCTTGTACTGGATGCTTTTTAAG -3'
|
Posted On |
2016-06-15 |