Incidental Mutation 'R9146:Raph1'
| ID |
694611 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R9146 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 60558137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
|
| AlphaFold |
F2Z3U3 |
| Predicted Effect |
probably null
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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (54/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
G |
A |
5: 137,289,077 (GRCm39) |
G261D |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,561,291 (GRCm39) |
T5408S |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,359,200 (GRCm39) |
N362D |
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,298,963 (GRCm39) |
N956S |
probably benign |
Het |
| Alg10b |
A |
G |
15: 90,112,401 (GRCm39) |
E415G |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,005 (GRCm39) |
D280G |
probably benign |
Het |
| Catsperg1 |
G |
C |
7: 28,909,912 (GRCm39) |
P72R |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,377,665 (GRCm39) |
E1565G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,048,832 (GRCm39) |
Y2290F |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,344 (GRCm39) |
H230L |
|
Het |
| Efhb |
A |
G |
17: 53,769,644 (GRCm39) |
S222P |
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,581,331 (GRCm39) |
T465M |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,849,635 (GRCm39) |
Y1431* |
probably null |
Het |
| Gm10912 |
T |
C |
2: 103,897,053 (GRCm39) |
V64A |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,273,206 (GRCm39) |
S197P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,924,571 (GRCm39) |
Y452C |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,487,097 (GRCm39) |
I3364T |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,474,141 (GRCm39) |
T4767M |
probably benign |
Het |
| Hspa4l |
A |
G |
3: 40,736,101 (GRCm39) |
D595G |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,329,739 (GRCm39) |
T53K |
unknown |
Het |
| Kirrel1 |
T |
C |
3: 87,003,015 (GRCm39) |
D126G |
probably damaging |
Het |
| Kit |
T |
A |
5: 75,810,305 (GRCm39) |
D822E |
probably damaging |
Het |
| Kiz |
C |
T |
2: 146,705,740 (GRCm39) |
T100M |
probably benign |
Het |
| Kmt2a |
T |
A |
9: 44,725,938 (GRCm39) |
K3663* |
probably null |
Het |
| Krt8 |
T |
A |
15: 101,907,370 (GRCm39) |
I238F |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,405 (GRCm39) |
P471S |
|
Het |
| Lca5l |
T |
C |
16: 95,960,998 (GRCm39) |
E493G |
probably damaging |
Het |
| Lrrc2 |
C |
T |
9: 110,808,582 (GRCm39) |
T273I |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,869,303 (GRCm39) |
S31P |
probably benign |
Het |
| Mmp1a |
A |
G |
9: 7,464,997 (GRCm39) |
D77G |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,200 (GRCm39) |
C290* |
probably null |
Het |
| Nfe2l3 |
G |
T |
6: 51,410,172 (GRCm39) |
A96S |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,011,854 (GRCm39) |
D624G |
probably damaging |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,452 (GRCm39) |
I128F |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,392 (GRCm39) |
V171A |
possibly damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,334,351 (GRCm39) |
A222T |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
| Pik3r1 |
C |
A |
13: 101,825,136 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,182,615 (GRCm39) |
Y642N |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,184,252 (GRCm39) |
H1538L |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,334,499 (GRCm39) |
F3237S |
|
Het |
| Sctr |
A |
G |
1: 119,982,010 (GRCm39) |
D286G |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,920,529 (GRCm39) |
S202P |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,328,502 (GRCm39) |
G356E |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,784,492 (GRCm39) |
S629R |
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,317,847 (GRCm39) |
V58A |
probably damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,831,588 (GRCm39) |
D463V |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,389,745 (GRCm39) |
V259A |
possibly damaging |
Het |
| Tmem248 |
A |
G |
5: 130,260,851 (GRCm39) |
T139A |
probably benign |
Het |
| Trip12 |
G |
T |
1: 84,771,881 (GRCm39) |
A89E |
possibly damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,647 (GRCm39) |
V96I |
probably benign |
Het |
| Vmn2r79 |
C |
T |
7: 86,650,681 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp831 |
C |
A |
2: 174,487,461 (GRCm39) |
T712N |
possibly damaging |
Het |
| Zfy1 |
A |
T |
Y: 726,033 (GRCm39) |
H577Q |
possibly damaging |
Het |
| Zscan4-ps2 |
T |
G |
7: 11,251,679 (GRCm39) |
S238R |
possibly 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 |
|
|
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 |
|
|
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'- CACTGTACGGAAAGTCTTTGAG -3'
(R):5'- AGTGATCCATTTCTCTTGTGCATG -3'
Sequencing Primer
(F):5'- TGACTGTCCTCGAACTCAGAAATCTG -3'
(R):5'- CTCTTGTGCATGAGTAGGAGACC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation