Incidental Mutation 'R5776:Raph1'
| ID |
446673 |
| 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 |
043375-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R5776 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 60529315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
unknown
Transcript: ENSMUST00000140485
AA Change: P649S
|
| SMART Domains |
Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: P649S
| 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 |
0.1291 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
98% (64/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,107,649 (GRCm39) |
M378K |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,514,132 (GRCm39) |
V857A |
probably benign |
Het |
| Abca9 |
C |
T |
11: 109,998,286 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
C |
5: 8,177,361 (GRCm39) |
K583E |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,186 (GRCm39) |
F80L |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,056,149 (GRCm39) |
I1511F |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,665 (GRCm39) |
E1811G |
possibly damaging |
Het |
| Cfh |
C |
A |
1: 140,071,761 (GRCm39) |
R291I |
possibly damaging |
Het |
| Col1a1 |
C |
T |
11: 94,840,550 (GRCm39) |
S1114F |
unknown |
Het |
| Ctsj |
T |
C |
13: 61,150,956 (GRCm39) |
D168G |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,945,534 (GRCm39) |
D79G |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,085,083 (GRCm39) |
N629S |
possibly damaging |
Het |
| Fbxo9 |
T |
C |
9: 78,002,469 (GRCm39) |
E204G |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,778 (GRCm39) |
V9L |
possibly damaging |
Het |
| Gfer |
G |
T |
17: 24,915,027 (GRCm39) |
S5R |
probably benign |
Het |
| Gm15931 |
A |
T |
7: 4,284,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
T |
A |
5: 146,105,691 (GRCm39) |
I158F |
possibly damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,344,828 (GRCm39) |
N234K |
possibly damaging |
Het |
| Hcn3 |
C |
T |
3: 89,055,412 (GRCm39) |
A612T |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,810,897 (GRCm39) |
E1679D |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,405 (GRCm39) |
L285P |
probably damaging |
Het |
| Igsf3 |
G |
A |
3: 101,332,796 (GRCm39) |
V25I |
probably benign |
Het |
| Jade1 |
A |
G |
3: 41,568,227 (GRCm39) |
H765R |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,977,963 (GRCm39) |
D25G |
unknown |
Het |
| Klhl3 |
A |
G |
13: 58,152,998 (GRCm39) |
S586P |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,569,072 (GRCm39) |
D582G |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,431,765 (GRCm39) |
C835Y |
probably damaging |
Het |
| Naa15 |
A |
C |
3: 51,367,447 (GRCm39) |
D490A |
probably damaging |
Het |
| Nab2 |
T |
A |
10: 127,500,198 (GRCm39) |
Y298F |
probably damaging |
Het |
| Nipsnap1 |
T |
A |
11: 4,838,919 (GRCm39) |
M115K |
probably benign |
Het |
| Nlrp5-ps |
T |
C |
7: 14,326,649 (GRCm39) |
|
noncoding transcript |
Het |
| Nol4l |
T |
G |
2: 153,259,741 (GRCm39) |
Q211P |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,760,363 (GRCm39) |
E265G |
probably damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,246 (GRCm39) |
M97K |
probably damaging |
Het |
| Or6k14 |
A |
T |
1: 173,927,339 (GRCm39) |
H105L |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,279,409 (GRCm39) |
K2970E |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,983 (GRCm39) |
T683A |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,362,454 (GRCm39) |
D282G |
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,576,901 (GRCm39) |
S10P |
possibly damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,268,325 (GRCm39) |
V935A |
possibly damaging |
Het |
| Reg4 |
T |
A |
3: 98,140,344 (GRCm39) |
D108E |
possibly damaging |
Het |
| Saraf |
T |
A |
8: 34,632,604 (GRCm39) |
Y228N |
probably damaging |
Het |
| Sctr |
T |
C |
1: 119,984,137 (GRCm39) |
S357P |
probably damaging |
Het |
| Sec22b |
A |
T |
3: 97,821,884 (GRCm39) |
N139Y |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,398,823 (GRCm39) |
I1037F |
probably damaging |
Het |
| Skint5 |
A |
C |
4: 113,620,700 (GRCm39) |
S671R |
unknown |
Het |
| Slc38a3 |
C |
A |
9: 107,535,948 (GRCm39) |
E62* |
probably null |
Het |
| Slfn14 |
C |
T |
11: 83,174,425 (GRCm39) |
E189K |
probably damaging |
Het |
| Sox21 |
A |
G |
14: 118,472,656 (GRCm39) |
L131P |
probably damaging |
Het |
| Stip1 |
A |
G |
19: 6,999,393 (GRCm39) |
|
probably null |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Susd1 |
T |
C |
4: 59,315,363 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,005,689 (GRCm39) |
D498E |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,165,532 (GRCm39) |
E1053K |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,692,211 (GRCm39) |
D103G |
probably damaging |
Het |
| Txndc15 |
A |
G |
13: 55,865,920 (GRCm39) |
E128G |
probably benign |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,673 (GRCm39) |
W306R |
probably damaging |
Het |
| Yjefn3 |
A |
T |
8: 70,342,121 (GRCm39) |
L33Q |
probably damaging |
Het |
| Zfp641 |
T |
C |
15: 98,186,891 (GRCm39) |
D244G |
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 |
|
|
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'- TTTGAGCCTTGGACTGTGAAGC -3'
(R):5'- GCCAAAGCTTACCTCTGTAACTG -3'
Sequencing Primer
(F):5'- CCTTGGACTGTGAAGCCAAAG -3'
(R):5'- CAAAGCTTACCTCTGTAACTGTTGTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation