Incidental Mutation 'R8409:Rassf8'
| ID |
652577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rassf8
|
| Ensembl Gene |
ENSMUSG00000030259 |
| Gene Name |
Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 |
| Synonyms |
mHoj-1, 5133400D11Rik |
| MMRRC Submission |
067766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.770)
|
| Stock # |
R8409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145692474-145766805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145761429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 252
(T252A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032388]
[ENSMUST00000058538]
[ENSMUST00000111704]
[ENSMUST00000140966]
|
| AlphaFold |
Q8CJ96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032388
AA Change: T252A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032388
Gene: ENSMUSG00000030259
AA Change: T252A
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
1 |
82 |
4.17e-11 |
SMART |
|
coiled coil region
|
161 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111704
AA Change: T252A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107333
Gene: ENSMUSG00000030259
AA Change: T252A
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
1 |
82 |
4.17e-11 |
SMART |
|
coiled coil region
|
161 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140966
|
| SMART Domains |
Protein: ENSMUSP00000122684
Gene: ENSMUSG00000030259
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
1 |
80 |
7.85e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
G |
5: 121,639,540 (GRCm39) |
N502H |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,953,495 (GRCm39) |
S2082R |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,453,544 (GRCm39) |
T1636A |
probably benign |
Het |
| Cep83 |
C |
T |
10: 94,573,839 (GRCm39) |
Q243* |
probably null |
Het |
| Dlg5 |
T |
G |
14: 24,226,546 (GRCm39) |
E452A |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,208 (GRCm39) |
D760E |
probably damaging |
Het |
| Elob |
G |
A |
17: 24,043,933 (GRCm39) |
R89C |
probably benign |
Het |
| En2 |
T |
C |
5: 28,371,882 (GRCm39) |
S120P |
probably benign |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Extl2 |
G |
T |
3: 115,820,911 (GRCm39) |
V253F |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,881 (GRCm39) |
E92G |
probably benign |
Het |
| Fbxo25 |
A |
T |
8: 13,964,999 (GRCm39) |
K17* |
probably null |
Het |
| Fig4 |
A |
T |
10: 41,141,427 (GRCm39) |
S277R |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,659,784 (GRCm39) |
S429P |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,891,297 (GRCm39) |
I177V |
probably benign |
Het |
| H13 |
C |
T |
2: 152,531,813 (GRCm39) |
P239L |
possibly damaging |
Het |
| Il12rb1 |
T |
A |
8: 71,269,187 (GRCm39) |
S456T |
possibly damaging |
Het |
| Irgq |
A |
G |
7: 24,233,209 (GRCm39) |
D350G |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,449,784 (GRCm39) |
S118P |
possibly damaging |
Het |
| Itpka |
C |
T |
2: 119,580,341 (GRCm39) |
R329C |
probably damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,982,686 (GRCm39) |
Q479K |
probably benign |
Het |
| Kbtbd2 |
T |
C |
6: 56,757,341 (GRCm39) |
N132D |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,536,878 (GRCm39) |
V736A |
probably damaging |
Het |
| Klhl3 |
T |
C |
13: 58,167,242 (GRCm39) |
D374G |
probably damaging |
Het |
| Mmp14 |
T |
A |
14: 54,678,125 (GRCm39) |
V582D |
probably damaging |
Het |
| Naalad2 |
A |
G |
9: 18,242,134 (GRCm39) |
V590A |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,197 (GRCm39) |
T50A |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,477 (GRCm39) |
M4K |
probably benign |
Het |
| Or7h8 |
T |
G |
9: 20,123,542 (GRCm39) |
|
probably benign |
Het |
| Pianp |
T |
C |
6: 124,976,214 (GRCm39) |
S8P |
unknown |
Het |
| Ppbp |
T |
C |
5: 90,916,486 (GRCm39) |
S9P |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,752 (GRCm39) |
I696T |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,760,856 (GRCm39) |
S27P |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,086,897 (GRCm39) |
R1561S |
|
Het |
| Rpe65 |
T |
A |
3: 159,319,785 (GRCm39) |
D218E |
probably benign |
Het |
| Sec23ip |
G |
A |
7: 128,365,855 (GRCm39) |
V575I |
probably damaging |
Het |
| Slc38a3 |
G |
A |
9: 107,536,454 (GRCm39) |
|
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 97,003,663 (GRCm39) |
C495Y |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,582,419 (GRCm39) |
T214K |
|
Het |
| Stox1 |
A |
G |
10: 62,501,795 (GRCm39) |
L255P |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,786,363 (GRCm39) |
M989V |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,402,452 (GRCm39) |
Y202N |
possibly damaging |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
C |
11: 23,407,811 (GRCm39) |
S2593P |
|
Het |
| Vmn2r85 |
A |
G |
10: 130,261,257 (GRCm39) |
V360A |
probably benign |
Het |
|
| Other mutations in Rassf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02973:Rassf8
|
APN |
6 |
145,762,916 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03017:Rassf8
|
APN |
6 |
145,762,924 (GRCm39) |
splice site |
probably null |
|
|
IGL03091:Rassf8
|
APN |
6 |
145,761,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0230:Rassf8
|
UTSW |
6 |
145,765,700 (GRCm39) |
unclassified |
probably benign |
|
|
R0967:Rassf8
|
UTSW |
6 |
145,765,676 (GRCm39) |
unclassified |
probably benign |
|
|
R1429:Rassf8
|
UTSW |
6 |
145,760,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Rassf8
|
UTSW |
6 |
145,765,829 (GRCm39) |
unclassified |
probably benign |
|
|
R1738:Rassf8
|
UTSW |
6 |
145,761,034 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1894:Rassf8
|
UTSW |
6 |
145,754,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Rassf8
|
UTSW |
6 |
145,760,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2238:Rassf8
|
UTSW |
6 |
145,762,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:Rassf8
|
UTSW |
6 |
145,761,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3699:Rassf8
|
UTSW |
6 |
145,765,802 (GRCm39) |
unclassified |
probably benign |
|
|
R4678:Rassf8
|
UTSW |
6 |
145,760,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Rassf8
|
UTSW |
6 |
145,761,266 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4826:Rassf8
|
UTSW |
6 |
145,762,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Rassf8
|
UTSW |
6 |
145,761,006 (GRCm39) |
nonsense |
probably null |
|
|
R4988:Rassf8
|
UTSW |
6 |
145,762,870 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5425:Rassf8
|
UTSW |
6 |
145,761,268 (GRCm39) |
missense |
probably benign |
|
|
R5620:Rassf8
|
UTSW |
6 |
145,765,907 (GRCm39) |
unclassified |
probably benign |
|
|
R5747:Rassf8
|
UTSW |
6 |
145,761,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6136:Rassf8
|
UTSW |
6 |
145,761,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6220:Rassf8
|
UTSW |
6 |
145,762,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Rassf8
|
UTSW |
6 |
145,761,295 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7315:Rassf8
|
UTSW |
6 |
145,761,477 (GRCm39) |
missense |
probably benign |
|
|
R7480:Rassf8
|
UTSW |
6 |
145,765,757 (GRCm39) |
missense |
unknown |
|
|
R7593:Rassf8
|
UTSW |
6 |
145,761,129 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7714:Rassf8
|
UTSW |
6 |
145,760,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7962:Rassf8
|
UTSW |
6 |
145,761,669 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8222:Rassf8
|
UTSW |
6 |
145,765,783 (GRCm39) |
missense |
unknown |
|
|
R8374:Rassf8
|
UTSW |
6 |
145,760,863 (GRCm39) |
nonsense |
probably null |
|
|
R9314:Rassf8
|
UTSW |
6 |
145,762,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Rassf8
|
UTSW |
6 |
145,762,342 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1088:Rassf8
|
UTSW |
6 |
145,761,208 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Rassf8
|
UTSW |
6 |
145,762,368 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGTACAGCTGTAGCCTG -3'
(R):5'- TTACCTGTAGCCGCTTGGTG -3'
Sequencing Primer
(F):5'- CCTGGAGGAGGAGATTGTCC -3'
(R):5'- GAGACCTCTCCACAGCTCTAATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation