Incidental Mutation 'R7254:Raph1'
| ID |
564115 |
| 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 |
045315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R7254 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60538767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 393
(S393G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
|
| AlphaFold |
F2Z3U3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027168
AA Change: S445G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: S445G
| 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
AA Change: S445G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: S445G
| 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: S393G
|
| SMART Domains |
Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: S393G
| 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
|
| Meta Mutation Damage Score |
0.0615 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (59/60) |
| 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 |
|---|
| 4931406B18Rik |
A |
T |
7: 43,147,623 (GRCm39) |
D249E |
probably damaging |
Het |
| Acacb |
A |
C |
5: 114,347,812 (GRCm39) |
|
probably null |
Het |
| Adnp |
A |
G |
2: 168,025,918 (GRCm39) |
V459A |
probably damaging |
Het |
| Arid3b |
T |
C |
9: 57,704,037 (GRCm39) |
K304E |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,977,816 (GRCm39) |
R2713L |
probably damaging |
Het |
| Bmpr1a |
A |
C |
14: 34,136,720 (GRCm39) |
D490E |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,323,393 (GRCm39) |
C1270* |
probably null |
Het |
| Cep295nl |
G |
T |
11: 118,223,866 (GRCm39) |
P326Q |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,383,043 (GRCm39) |
I377V |
unknown |
Het |
| Creb1 |
C |
T |
1: 64,615,436 (GRCm39) |
Q223* |
probably null |
Het |
| Ctsc |
G |
A |
7: 87,958,767 (GRCm39) |
G349D |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,681,769 (GRCm39) |
R311* |
probably null |
Het |
| Dpcd |
A |
G |
19: 45,565,473 (GRCm39) |
Q149R |
probably benign |
Het |
| Dse |
T |
A |
10: 34,060,144 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
A |
G |
12: 116,226,205 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
T |
7: 120,488,488 (GRCm39) |
H458Y |
probably benign |
Het |
| Gipr |
A |
T |
7: 18,897,538 (GRCm39) |
V90E |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,009,189 (GRCm39) |
D22E |
probably damaging |
Het |
| Gm21886 |
A |
T |
18: 80,132,950 (GRCm39) |
C69* |
probably null |
Het |
| Gm5114 |
G |
A |
7: 39,058,390 (GRCm39) |
L410F |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,269,118 (GRCm39) |
|
probably null |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,101 (GRCm39) |
T128A |
possibly damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,059,886 (GRCm39) |
E330G |
possibly damaging |
Het |
| Hoxd9 |
T |
A |
2: 74,528,718 (GRCm39) |
W107R |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,876,554 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
G |
T |
1: 173,421,529 (GRCm39) |
P120Q |
probably damaging |
Het |
| Il6 |
A |
T |
5: 30,219,906 (GRCm39) |
Q94L |
probably benign |
Het |
| Kcnab1 |
A |
G |
3: 65,226,908 (GRCm39) |
S196G |
probably benign |
Het |
| Kcnv1 |
C |
T |
15: 44,976,604 (GRCm39) |
V228I |
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,284,028 (GRCm39) |
T739A |
possibly damaging |
Het |
| Med13 |
T |
C |
11: 86,210,661 (GRCm39) |
S494G |
probably benign |
Het |
| Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
| Myh9 |
T |
G |
15: 77,650,024 (GRCm39) |
Q1646P |
probably damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,489,625 (GRCm39) |
S171R |
probably benign |
Het |
| Or13n4 |
A |
G |
7: 106,422,777 (GRCm39) |
*319Q |
probably null |
Het |
| Or1e1c |
A |
G |
11: 73,266,201 (GRCm39) |
I212V |
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,874,603 (GRCm39) |
V277A |
probably benign |
Het |
| Or51f23 |
A |
G |
7: 102,452,765 (GRCm39) |
T27A |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,475 (GRCm39) |
D161V |
probably benign |
Het |
| Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
| Or8c8 |
T |
C |
9: 38,164,719 (GRCm39) |
M2T |
probably benign |
Het |
| Pak5 |
A |
T |
2: 135,958,684 (GRCm39) |
S135T |
possibly damaging |
Het |
| Prr29 |
A |
T |
11: 106,265,684 (GRCm39) |
M1L |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,742,502 (GRCm39) |
V2407E |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,741,978 (GRCm39) |
H1310L |
probably damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Ror2 |
A |
G |
13: 53,272,756 (GRCm39) |
I303T |
possibly damaging |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,447,921 (GRCm39) |
D1378N |
probably damaging |
Het |
| Serpinc1 |
T |
A |
1: 160,821,188 (GRCm39) |
C91S |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,889,790 (GRCm39) |
I677V |
probably benign |
Het |
| Tada1 |
T |
A |
1: 166,216,217 (GRCm39) |
C139* |
probably null |
Het |
| Tbr1 |
T |
A |
2: 61,636,386 (GRCm39) |
V254E |
probably damaging |
Het |
| Timd4 |
A |
T |
11: 46,734,016 (GRCm39) |
I340F |
probably benign |
Het |
| Tubb2a |
T |
C |
13: 34,258,515 (GRCm39) |
Y425C |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,819,476 (GRCm39) |
M287K |
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 |
|
|
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 |
|
|
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'- TGAAACCATCTTCCGTGTGTC -3'
(R):5'- CTCCAGGATTGCCACAGTAATTC -3'
Sequencing Primer
(F):5'- ATCTTCCGTGTGTCTTAATACAGG -3'
(R):5'- CCAGGATTGCCACAGTAATTCTAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation