Incidental Mutation 'R5802:Raph1'
| ID |
448762 |
| 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 |
043391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R5802 (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 60527832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1143
(N1143S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
|
| AlphaFold |
F2Z3U3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027168
|
| SMART Domains |
Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
| 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
|
| SMART Domains |
Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
| 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: ENSMUST00000140485
AA Change: N1143S
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: N1143S
| 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
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 12,021,188 (GRCm39) |
D383V |
probably damaging |
Het |
| AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
| Abca4 |
A |
T |
3: 121,847,881 (GRCm39) |
L67F |
probably damaging |
Het |
| Abcc9 |
C |
A |
6: 142,602,402 (GRCm39) |
|
probably null |
Het |
| Atp2a3 |
T |
C |
11: 72,863,708 (GRCm39) |
V175A |
probably damaging |
Het |
| B3galt4 |
T |
A |
17: 34,169,731 (GRCm39) |
D169V |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,872,307 (GRCm39) |
E90G |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,365,716 (GRCm39) |
I155N |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,178,458 (GRCm39) |
N519D |
probably damaging |
Het |
| Clgn |
T |
C |
8: 84,152,243 (GRCm39) |
S582P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,006 (GRCm39) |
F280S |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,729,690 (GRCm39) |
T764M |
probably benign |
Het |
| Dis3 |
A |
T |
14: 99,337,100 (GRCm39) |
S4T |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,073,086 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
T |
11: 117,927,272 (GRCm39) |
V3839I |
possibly damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,289,550 (GRCm39) |
Y286H |
probably benign |
Het |
| Dynap |
T |
A |
18: 70,374,073 (GRCm39) |
D151V |
unknown |
Het |
| Ednrb |
A |
G |
14: 104,059,150 (GRCm39) |
F292S |
probably damaging |
Het |
| Eef1a1 |
A |
G |
9: 78,386,318 (GRCm39) |
S396P |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,006,582 (GRCm39) |
F324S |
probably benign |
Het |
| Fbxw11 |
T |
A |
11: 32,661,790 (GRCm39) |
S56T |
probably benign |
Het |
| Gm17535 |
G |
C |
9: 3,035,758 (GRCm39) |
V209L |
probably benign |
Homo |
| Gm5592 |
C |
T |
7: 40,868,529 (GRCm39) |
|
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,919,373 (GRCm39) |
W51* |
probably null |
Het |
| H2-T9 |
A |
G |
17: 36,422,179 (GRCm39) |
|
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,475,879 (GRCm39) |
Y146C |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,370,160 (GRCm39) |
C2982F |
probably damaging |
Het |
| Hnrnpa3 |
T |
A |
2: 75,495,400 (GRCm39) |
N309K |
unknown |
Het |
| Hydin |
A |
T |
8: 111,178,692 (GRCm39) |
I1096F |
possibly damaging |
Het |
| Klf12 |
A |
G |
14: 100,260,330 (GRCm39) |
V133A |
probably benign |
Het |
| Lats2 |
A |
T |
14: 57,931,875 (GRCm39) |
Y848N |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,026,270 (GRCm39) |
T453A |
possibly damaging |
Het |
| Ltn1 |
T |
G |
16: 87,212,569 (GRCm39) |
H664P |
probably benign |
Het |
| Lypd6 |
C |
T |
2: 50,063,613 (GRCm39) |
T40I |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,311,380 (GRCm39) |
T1817S |
probably benign |
Het |
| Nub1 |
A |
C |
5: 24,907,439 (GRCm39) |
Y350S |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,286,874 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Ptpru |
C |
T |
4: 131,515,688 (GRCm39) |
E827K |
possibly damaging |
Het |
| Rap1a |
A |
G |
3: 105,653,252 (GRCm39) |
Y32H |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,003,353 (GRCm39) |
T859A |
probably benign |
Het |
| Rom1 |
A |
G |
19: 8,906,188 (GRCm39) |
L117P |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,025,926 (GRCm39) |
|
probably benign |
Het |
| Sirpb1c |
T |
C |
3: 15,886,240 (GRCm39) |
M379V |
probably benign |
Het |
| Slc6a4 |
C |
T |
11: 76,910,062 (GRCm39) |
T439M |
probably damaging |
Het |
| Srsf12 |
G |
T |
4: 33,230,929 (GRCm39) |
R141L |
probably damaging |
Het |
| Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
| Tcstv2c |
G |
A |
13: 120,616,449 (GRCm39) |
S96N |
possibly damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
| Tgds |
T |
C |
14: 118,370,119 (GRCm39) |
E8G |
probably benign |
Het |
| Tmem129 |
A |
G |
5: 33,815,060 (GRCm39) |
S38P |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,557,188 (GRCm39) |
E812G |
probably damaging |
Het |
| Trmt10b |
T |
A |
4: 45,314,236 (GRCm39) |
|
probably benign |
Het |
| Wapl |
A |
G |
14: 34,414,277 (GRCm39) |
T380A |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,255,914 (GRCm39) |
T829S |
probably benign |
Het |
| Zc3h6 |
C |
T |
2: 128,857,479 (GRCm39) |
P666L |
possibly damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,049 (GRCm39) |
T150A |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
|
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 |
|
|
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'- TAGTGCCATGTCGTCCATTGTG -3'
(R):5'- CGCCACCATCTGATTCTGAC -3'
Sequencing Primer
(F):5'- CTGCTCTGGACATACGTGAG -3'
(R):5'- ACCATCTGATTCTGACTTTCCAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation