Incidental Mutation 'RF002:Rassf6'
ID |
602554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rassf6
|
Ensembl Gene |
ENSMUSG00000029370 |
Gene Name |
Ras association (RalGDS/AF-6) domain family member 6 |
Synonyms |
1600016B17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
RF002 (G1)
|
Quality Score |
138.467 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
90750935-90788516 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
GTAGAGCAATGGGGATTC to GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC
at 90756784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031317]
[ENSMUST00000202704]
[ENSMUST00000202784]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000031317
|
SMART Domains |
Protein: ENSMUSP00000031317 Gene: ENSMUSG00000029370
Domain | Start | End | E-Value | Type |
RA
|
188 |
278 |
2.67e-9 |
SMART |
Pfam:Nore1-SARAH
|
290 |
329 |
1.1e-11 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000202704
|
SMART Domains |
Protein: ENSMUSP00000144532 Gene: ENSMUSG00000029370
Domain | Start | End | E-Value | Type |
RA
|
188 |
278 |
2.67e-9 |
SMART |
Pfam:Nore1-SARAH
|
290 |
329 |
1.1e-11 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000202784
|
SMART Domains |
Protein: ENSMUSP00000144337 Gene: ENSMUSG00000029370
Domain | Start | End | E-Value | Type |
low complexity region
|
126 |
135 |
N/A |
INTRINSIC |
RA
|
175 |
265 |
2.67e-9 |
SMART |
Pfam:Nore1-SARAH
|
277 |
316 |
8.6e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202807
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
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-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GGC |
GGCTGC |
19: 5,475,263 (GRCm39) |
|
probably benign |
Het |
Angptl1 |
A |
T |
1: 156,684,794 (GRCm39) |
Q321L |
possibly damaging |
Het |
AY358078 |
T |
TAGGATAATGC |
14: 52,043,050 (GRCm39) |
|
probably null |
Het |
Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably benign |
Het |
Blm |
CTC |
CTCATCCTCCTCATC |
7: 80,162,675 (GRCm39) |
|
probably benign |
Het |
Car13 |
T |
C |
3: 14,719,974 (GRCm39) |
Y129H |
probably damaging |
Het |
Cd109 |
TTATTTATTTAT |
TTATTTATTTATGTATTTATTTAT |
9: 78,619,805 (GRCm39) |
|
probably benign |
Het |
Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
T |
C |
2: 178,108,424 (GRCm39) |
C341R |
probably damaging |
Het |
Chga |
GCA |
GCACCA |
12: 102,527,680 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
A |
T |
3: 114,010,650 (GRCm39) |
I1689L |
unknown |
Het |
Dnah6 |
T |
G |
6: 73,078,872 (GRCm39) |
S2364R |
probably benign |
Het |
E4f1 |
CCG |
CCGACG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
Fah |
A |
C |
7: 84,238,836 (GRCm39) |
N336K |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,303,481 (GRCm39) |
I664K |
|
Het |
Fcgbp |
A |
G |
7: 27,789,180 (GRCm39) |
D582G |
probably benign |
Het |
Gabre |
C |
CCGGCTA |
X: 71,313,663 (GRCm39) |
|
probably null |
Het |
Garin5a |
CCTGGGTCTGAGGGAGGA |
CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA |
7: 44,149,944 (GRCm39) |
|
probably null |
Het |
Gm1110 |
A |
G |
9: 26,831,936 (GRCm39) |
Y72H |
probably damaging |
Het |
Inpp5e |
C |
T |
2: 26,298,389 (GRCm39) |
A71T |
possibly damaging |
Het |
Iqcm |
C |
T |
8: 76,304,527 (GRCm39) |
T96I |
probably benign |
Het |
Lce1m |
TGCCACCGCTGC |
TGCCACCGCTGCCGCCACCGCTGC |
3: 92,925,590 (GRCm39) |
|
probably benign |
Het |
Lce1m |
AC |
ACCGCCGCTGCCCC |
3: 92,925,606 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
Lyst |
A |
G |
13: 13,808,948 (GRCm39) |
D206G |
probably benign |
Het |
Map4k5 |
A |
T |
12: 69,903,630 (GRCm39) |
D58E |
probably damaging |
Het |
Mapkapk2 |
A |
G |
1: 130,984,250 (GRCm39) |
S251P |
probably damaging |
Het |
Mcph1 |
CCTG |
CCTGCTG |
8: 18,702,545 (GRCm39) |
|
probably benign |
Het |
Men1 |
T |
C |
19: 6,390,146 (GRCm39) |
S600P |
probably damaging |
Het |
Mllt1 |
C |
T |
17: 57,203,300 (GRCm39) |
V394M |
probably benign |
Het |
Mllt1 |
C |
A |
17: 57,203,301 (GRCm39) |
M393I |
possibly damaging |
Het |
Nacc1 |
T |
C |
8: 85,402,848 (GRCm39) |
E315G |
possibly damaging |
Het |
Nefh |
GGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTAGGGACTTGGCCTC |
11: 4,891,047 (GRCm39) |
|
probably benign |
Het |
Nefh |
GACTTGGCCTC |
GACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,050 (GRCm39) |
|
probably benign |
Het |
Nid2 |
TAACACCGCCA |
TA |
14: 19,801,434 (GRCm39) |
|
probably benign |
Het |
Or5b122 |
T |
A |
19: 13,563,415 (GRCm39) |
I206N |
probably damaging |
Het |
Parp2 |
A |
G |
14: 51,054,843 (GRCm39) |
E262G |
probably damaging |
Het |
Pdik1l |
TTT |
TTTGTTTTTGTGTT |
4: 134,006,686 (GRCm39) |
|
probably null |
Het |
Pop1 |
G |
A |
15: 34,502,583 (GRCm39) |
G90D |
probably damaging |
Het |
Ppp3cc |
T |
C |
14: 70,504,788 (GRCm39) |
T73A |
possibly damaging |
Het |
Prdm15 |
C |
T |
16: 97,600,829 (GRCm39) |
D810N |
probably damaging |
Het |
Prpf4b |
T |
A |
13: 35,068,219 (GRCm39) |
S349R |
unknown |
Het |
Sdk2 |
T |
C |
11: 113,776,078 (GRCm39) |
E208G |
probably benign |
Het |
Smurf2 |
G |
T |
11: 106,743,413 (GRCm39) |
P211Q |
probably benign |
Het |
Snx25 |
C |
A |
8: 46,569,218 (GRCm39) |
|
probably null |
Het |
Spata6 |
T |
A |
4: 111,685,502 (GRCm39) |
M469K |
probably benign |
Het |
Spta1 |
G |
T |
1: 174,058,926 (GRCm39) |
A1954S |
possibly damaging |
Het |
Sry |
CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG |
CTGGTCATGGAACTGCTG |
Y: 2,662,564 (GRCm39) |
|
probably benign |
Het |
Stard8 |
GAG |
GAGTAG |
X: 98,110,121 (GRCm39) |
|
probably null |
Het |
Tfeb |
AGC |
AGCGGC |
17: 48,097,027 (GRCm39) |
|
probably benign |
Het |
Tlcd1 |
T |
A |
11: 78,071,020 (GRCm39) |
L203Q |
probably benign |
Het |
Tlr11 |
T |
C |
14: 50,598,682 (GRCm39) |
F223L |
possibly damaging |
Het |
Usp48 |
T |
A |
4: 137,333,106 (GRCm39) |
V100D |
probably damaging |
Het |
Vinac1 |
A |
G |
2: 128,880,714 (GRCm39) |
F404S |
|
Het |
Vmn2r56 |
G |
A |
7: 12,428,757 (GRCm39) |
T503I |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,127,871 (GRCm39) |
L898P |
probably damaging |
Het |
Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
Zfp706 |
T |
A |
15: 37,003,949 (GRCm39) |
Y39F |
probably benign |
Het |
Zhx3 |
T |
A |
2: 160,623,726 (GRCm39) |
N147I |
probably damaging |
Het |
|
Other mutations in Rassf6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00773:Rassf6
|
APN |
5 |
90,751,999 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00819:Rassf6
|
APN |
5 |
90,751,930 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01139:Rassf6
|
APN |
5 |
90,756,825 (GRCm39) |
makesense |
probably null |
|
IGL03114:Rassf6
|
APN |
5 |
90,756,649 (GRCm39) |
splice site |
probably benign |
|
R1956:Rassf6
|
UTSW |
5 |
90,763,730 (GRCm39) |
nonsense |
probably null |
|
R2167:Rassf6
|
UTSW |
5 |
90,751,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R2351:Rassf6
|
UTSW |
5 |
90,779,418 (GRCm39) |
missense |
probably benign |
0.05 |
R2877:Rassf6
|
UTSW |
5 |
90,754,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R3943:Rassf6
|
UTSW |
5 |
90,752,185 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3944:Rassf6
|
UTSW |
5 |
90,752,185 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4131:Rassf6
|
UTSW |
5 |
90,757,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Rassf6
|
UTSW |
5 |
90,752,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5153:Rassf6
|
UTSW |
5 |
90,754,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5633:Rassf6
|
UTSW |
5 |
90,751,977 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5994:Rassf6
|
UTSW |
5 |
90,765,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R6000:Rassf6
|
UTSW |
5 |
90,751,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Rassf6
|
UTSW |
5 |
90,757,633 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7038:Rassf6
|
UTSW |
5 |
90,757,584 (GRCm39) |
missense |
probably benign |
0.13 |
R7190:Rassf6
|
UTSW |
5 |
90,754,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R7549:Rassf6
|
UTSW |
5 |
90,754,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R8497:Rassf6
|
UTSW |
5 |
90,779,391 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9472:Rassf6
|
UTSW |
5 |
90,765,572 (GRCm39) |
nonsense |
probably null |
|
RF002:Rassf6
|
UTSW |
5 |
90,756,780 (GRCm39) |
utr 3 prime |
probably benign |
|
RF004:Rassf6
|
UTSW |
5 |
90,756,778 (GRCm39) |
utr 3 prime |
probably benign |
|
RF011:Rassf6
|
UTSW |
5 |
90,756,780 (GRCm39) |
utr 3 prime |
probably benign |
|
RF013:Rassf6
|
UTSW |
5 |
90,756,800 (GRCm39) |
utr 3 prime |
probably benign |
|
RF018:Rassf6
|
UTSW |
5 |
90,756,788 (GRCm39) |
utr 3 prime |
probably benign |
|
RF032:Rassf6
|
UTSW |
5 |
90,756,798 (GRCm39) |
utr 3 prime |
probably benign |
|
RF034:Rassf6
|
UTSW |
5 |
90,756,776 (GRCm39) |
utr 3 prime |
probably benign |
|
RF034:Rassf6
|
UTSW |
5 |
90,756,771 (GRCm39) |
utr 3 prime |
probably benign |
|
RF034:Rassf6
|
UTSW |
5 |
90,756,782 (GRCm39) |
utr 3 prime |
probably benign |
|
RF035:Rassf6
|
UTSW |
5 |
90,756,767 (GRCm39) |
utr 3 prime |
probably benign |
|
RF036:Rassf6
|
UTSW |
5 |
90,756,774 (GRCm39) |
utr 3 prime |
probably benign |
|
RF038:Rassf6
|
UTSW |
5 |
90,756,789 (GRCm39) |
utr 3 prime |
probably benign |
|
RF038:Rassf6
|
UTSW |
5 |
90,756,783 (GRCm39) |
utr 3 prime |
probably benign |
|
RF039:Rassf6
|
UTSW |
5 |
90,756,798 (GRCm39) |
utr 3 prime |
probably benign |
|
RF039:Rassf6
|
UTSW |
5 |
90,756,774 (GRCm39) |
utr 3 prime |
probably benign |
|
RF043:Rassf6
|
UTSW |
5 |
90,756,798 (GRCm39) |
utr 3 prime |
probably benign |
|
RF043:Rassf6
|
UTSW |
5 |
90,756,791 (GRCm39) |
utr 3 prime |
probably benign |
|
RF049:Rassf6
|
UTSW |
5 |
90,756,772 (GRCm39) |
utr 3 prime |
probably benign |
|
RF051:Rassf6
|
UTSW |
5 |
90,756,788 (GRCm39) |
utr 3 prime |
probably benign |
|
RF052:Rassf6
|
UTSW |
5 |
90,756,782 (GRCm39) |
utr 3 prime |
probably benign |
|
RF052:Rassf6
|
UTSW |
5 |
90,756,775 (GRCm39) |
utr 3 prime |
probably benign |
|
RF054:Rassf6
|
UTSW |
5 |
90,756,790 (GRCm39) |
utr 3 prime |
probably benign |
|
RF054:Rassf6
|
UTSW |
5 |
90,756,783 (GRCm39) |
utr 3 prime |
probably benign |
|
RF054:Rassf6
|
UTSW |
5 |
90,756,770 (GRCm39) |
utr 3 prime |
probably benign |
|
RF063:Rassf6
|
UTSW |
5 |
90,756,801 (GRCm39) |
nonsense |
probably null |
|
X0017:Rassf6
|
UTSW |
5 |
90,754,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTTAGGCATCTGCTACCG -3'
(R):5'- GCCAGGAAATAGCAGTCATTC -3'
Sequencing Primer
(F):5'- CCGCTGTTATTACTAACTTGAATGC -3'
(R):5'- TCTTGTTAATAAAAGCACGCCAGCG -3'
|
Posted On |
2019-12-04 |