Incidental Mutation 'R7122:Raph1'
| ID |
552046 |
| 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 |
045245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R7122 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60521451-60606263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60565136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 117
(V117D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027168]
[ENSMUST00000090293]
[ENSMUST00000140485]
[ENSMUST00000142258]
|
| AlphaFold |
F2Z3U3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027168
AA Change: V117D
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: V117D
| 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: V117D
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: V117D
| 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: V117D
|
| SMART Domains |
Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: V117D
| 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: ENSMUST00000142258
AA Change: V117D
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120638
Gene: ENSMUSG00000026014
AA Change: V117D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
202 |
212 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (75/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
A |
13: 4,561,275 (GRCm39) |
E126V |
probably benign |
Het |
| Alg3 |
A |
T |
16: 20,426,602 (GRCm39) |
L213H |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,059,503 (GRCm39) |
Y863F |
possibly damaging |
Het |
| Atp6v0e |
A |
G |
17: 26,914,390 (GRCm39) |
T72A |
probably benign |
Het |
| Aup1 |
A |
G |
6: 83,032,123 (GRCm39) |
T97A |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,892,583 (GRCm39) |
L249P |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,705,766 (GRCm39) |
K750E |
possibly damaging |
Het |
| Ces1g |
C |
A |
8: 94,043,665 (GRCm39) |
G425C |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,683,409 (GRCm39) |
L745P |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,343,020 (GRCm39) |
V1471M |
|
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| E4f1 |
G |
A |
17: 24,663,808 (GRCm39) |
Q569* |
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,899,787 (GRCm39) |
I4350F |
possibly damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,430,328 (GRCm39) |
C439S |
probably benign |
Het |
| Ftdc2 |
C |
A |
16: 58,458,140 (GRCm39) |
A54S |
probably benign |
Het |
| Gmip |
C |
T |
8: 70,270,452 (GRCm39) |
P721S |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,871,279 (GRCm39) |
I669V |
possibly damaging |
Het |
| Gsn |
A |
T |
2: 35,185,061 (GRCm39) |
K339* |
probably null |
Het |
| Herc1 |
G |
T |
9: 66,307,056 (GRCm39) |
A959S |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,060,056 (GRCm39) |
V97A |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,766,189 (GRCm39) |
Y242C |
probably damaging |
Het |
| Iqsec3 |
A |
C |
6: 121,450,317 (GRCm39) |
V69G |
unknown |
Het |
| Jak3 |
T |
A |
8: 72,138,601 (GRCm39) |
M933K |
probably damaging |
Het |
| Kbtbd7 |
G |
A |
14: 79,665,757 (GRCm39) |
V530I |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,150 (GRCm39) |
R345C |
probably benign |
Het |
| Klhl7 |
G |
A |
5: 24,343,433 (GRCm39) |
E250K |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,860,531 (GRCm39) |
H183R |
probably damaging |
Het |
| Lhfpl4 |
C |
T |
6: 113,153,632 (GRCm39) |
V140I |
probably benign |
Het |
| Lhx5 |
T |
A |
5: 120,574,410 (GRCm39) |
M238K |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,345,244 (GRCm39) |
H27Q |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,214,070 (GRCm39) |
R18* |
probably null |
Het |
| Myct1 |
C |
A |
10: 5,554,492 (GRCm39) |
H120N |
probably damaging |
Het |
| Nek1 |
A |
T |
8: 61,559,829 (GRCm39) |
D984V |
probably benign |
Het |
| Nfu1 |
A |
T |
6: 86,986,863 (GRCm39) |
|
probably benign |
Het |
| Nipsnap1 |
A |
T |
11: 4,833,366 (GRCm39) |
|
probably null |
Het |
| Nlrp9c |
A |
G |
7: 26,085,046 (GRCm39) |
Y178H |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,477,377 (GRCm39) |
M520K |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,853,323 (GRCm39) |
D143G |
probably benign |
Het |
| Obox5 |
A |
G |
7: 15,492,732 (GRCm39) |
Y229C |
probably damaging |
Het |
| Or1j12 |
A |
G |
2: 36,342,702 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or1j18 |
G |
A |
2: 36,624,436 (GRCm39) |
M34I |
probably benign |
Het |
| Or2a5 |
T |
C |
6: 42,874,024 (GRCm39) |
V213A |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,588,405 (GRCm39) |
L224P |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,702,515 (GRCm39) |
A713T |
probably benign |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,566 (GRCm39) |
N452T |
probably benign |
Het |
| Pi16 |
A |
G |
17: 29,545,313 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pla2g5 |
T |
C |
4: 138,531,830 (GRCm39) |
D58G |
probably damaging |
Het |
| Plpp4 |
G |
T |
7: 128,981,207 (GRCm39) |
V153F |
unknown |
Het |
| Plxna2 |
C |
A |
1: 194,326,876 (GRCm39) |
S270* |
probably null |
Het |
| Pole |
T |
A |
5: 110,472,968 (GRCm39) |
|
probably null |
Het |
| Prmt7 |
T |
C |
8: 106,961,732 (GRCm39) |
F215S |
unknown |
Het |
| Ptpn21 |
C |
T |
12: 98,655,171 (GRCm39) |
V599I |
probably damaging |
Het |
| Rab26 |
C |
A |
17: 24,749,652 (GRCm39) |
R131L |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,447,845 (GRCm39) |
V3297A |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,095,796 (GRCm39) |
A262S |
probably benign |
Het |
| Sgf29 |
A |
G |
7: 126,271,221 (GRCm39) |
D193G |
probably null |
Het |
| Sh3rf2 |
G |
A |
18: 42,237,227 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
T |
C |
12: 82,469,236 (GRCm39) |
V1245A |
possibly damaging |
Het |
| Slc22a7 |
A |
G |
17: 46,749,224 (GRCm39) |
L31P |
probably damaging |
Het |
| Slc24a5 |
G |
A |
2: 124,930,111 (GRCm39) |
V471I |
probably benign |
Het |
| Slc26a7 |
A |
T |
4: 14,533,639 (GRCm39) |
Y395N |
probably damaging |
Het |
| Slc38a2 |
T |
C |
15: 96,591,182 (GRCm39) |
M229V |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Susd1 |
G |
A |
4: 59,411,318 (GRCm39) |
R225* |
probably null |
Het |
| Suz12 |
T |
A |
11: 79,884,419 (GRCm39) |
F92I |
probably damaging |
Het |
| Tmem114 |
C |
A |
16: 8,242,610 (GRCm39) |
|
probably benign |
Het |
| Tmem68 |
A |
G |
4: 3,564,107 (GRCm39) |
V159A |
probably benign |
Het |
| Tpra1 |
T |
A |
6: 88,885,276 (GRCm39) |
I76N |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,839,353 (GRCm39) |
T752A |
unknown |
Het |
| Trp63 |
C |
A |
16: 25,639,227 (GRCm39) |
H138Q |
probably damaging |
Het |
| Ugt2a2 |
T |
C |
5: 87,608,255 (GRCm39) |
D528G |
possibly damaging |
Het |
| Vmn2r39 |
T |
G |
7: 9,017,761 (GRCm39) |
K858N |
possibly damaging |
Het |
| Zfp629 |
A |
T |
7: 127,210,484 (GRCm39) |
S442T |
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 |
|
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'- TACCAGAGATTGCTGAGCAG -3'
(R):5'- TACCAGAGATCTTAAAGGATAGGC -3'
Sequencing Primer
(F):5'- TGAGCAGCCTCATCCATGC -3'
(R):5'- GCTGACCTCTGCTCTATA -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation