Incidental Mutation 'R5633:Rassf6'
ID 439971
Institutional Source Beutler Lab
Gene Symbol Rassf6
Ensembl Gene ENSMUSG00000029370
Gene Name Ras association (RalGDS/AF-6) domain family member 6
Synonyms 1600016B17Rik
MMRRC Submission 043284-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5633 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 90750935-90788516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90751977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 292 (H292R)
Ref Sequence ENSEMBL: ENSMUSP00000144532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031317] [ENSMUST00000202704] [ENSMUST00000202784]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000031317
AA Change: H292R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031317
Gene: ENSMUSG00000029370
AA Change: H292R

DomainStartEndE-ValueType
RA 188 278 2.67e-9 SMART
Pfam:Nore1-SARAH 290 329 1.1e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000202704
AA Change: H292R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144532
Gene: ENSMUSG00000029370
AA Change: H292R

DomainStartEndE-ValueType
RA 188 278 2.67e-9 SMART
Pfam:Nore1-SARAH 290 329 1.1e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000202784
AA Change: H279R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144337
Gene: ENSMUSG00000029370
AA Change: H279R

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0913 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,344,598 (GRCm39) C125S probably benign Het
Abcb8 T C 5: 24,608,107 (GRCm39) L382P probably damaging Het
Acot3 A G 12: 84,105,724 (GRCm39) probably null Het
Acsl6 A T 11: 54,228,015 (GRCm39) Q345L probably benign Het
Adcy8 A G 15: 64,571,134 (GRCm39) S1170P probably damaging Het
Ankrd28 T G 14: 31,457,022 (GRCm39) D182A probably damaging Het
B3galt5 A T 16: 96,116,709 (GRCm39) H114L probably benign Het
Bcas2 T A 3: 103,085,740 (GRCm39) Y207* probably null Het
Best1 A G 19: 9,969,467 (GRCm39) L197P probably benign Het
Chil6 C A 3: 106,296,068 (GRCm39) C389F probably damaging Het
Chrna4 T C 2: 180,671,253 (GRCm39) T168A probably damaging Het
Ckmt1 C G 2: 121,194,110 (GRCm39) probably benign Het
Dhcr7 T C 7: 143,401,160 (GRCm39) L441P probably damaging Het
Dmtn T C 14: 70,842,419 (GRCm39) M365V probably benign Het
Dmxl1 T A 18: 50,010,764 (GRCm39) S974T probably damaging Het
Dnajb13 T C 7: 100,156,626 (GRCm39) D150G probably benign Het
Eef2k C A 7: 120,472,513 (GRCm39) probably benign Het
Elp2 T A 18: 24,748,267 (GRCm39) V213E probably damaging Het
Fbxo43 A T 15: 36,162,241 (GRCm39) probably null Het
Gm11559 C A 11: 99,755,412 (GRCm39) C20* probably null Het
Gnb2 T C 5: 137,527,454 (GRCm39) I213V probably benign Het
Gnb5 C T 9: 75,251,796 (GRCm39) T306I probably damaging Het
Ica1 A T 6: 8,667,257 (GRCm39) I303N possibly damaging Het
Idh1 A G 1: 65,204,295 (GRCm39) Y272H probably damaging Het
Ikzf2 G A 1: 69,578,256 (GRCm39) Q273* probably null Het
Itpkb A T 1: 180,154,790 (GRCm39) ⇒1 probably benign Het
Kntc1 C T 5: 123,957,120 (GRCm39) T2143I probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lmbrd1 C A 1: 24,787,943 (GRCm39) D464E possibly damaging Het
Med13 A G 11: 86,169,757 (GRCm39) probably benign Het
Mn1 T C 5: 111,568,192 (GRCm39) F721L possibly damaging Het
Myo9a T A 9: 59,775,467 (GRCm39) L1026Q possibly damaging Het
Or6c204 A T 10: 129,022,718 (GRCm39) F191I probably benign Het
P4htm A C 9: 108,456,922 (GRCm39) D428E probably damaging Het
Parp8 C T 13: 117,013,116 (GRCm39) R602H probably damaging Het
Pkd2 T A 5: 104,646,372 (GRCm39) S726R probably damaging Het
Pla2g6 A T 15: 79,183,342 (GRCm39) I495N possibly damaging Het
Psmd5 A G 2: 34,746,500 (GRCm39) I359T probably benign Het
Rnf145 T C 11: 44,450,915 (GRCm39) I413T probably damaging Het
Rpn2 T A 2: 157,125,516 (GRCm39) V9D possibly damaging Het
Rpp30 T C 19: 36,064,390 (GRCm39) L57P probably damaging Het
Slc41a1 A G 1: 131,774,325 (GRCm39) H464R possibly damaging Het
Slc47a1 G T 11: 61,260,087 (GRCm39) P163Q probably damaging Het
Smc4 T A 3: 68,915,443 (GRCm39) I165K probably damaging Het
Stra6l T A 4: 45,881,455 (GRCm39) I439K probably benign Het
Syt9 C T 7: 107,024,503 (GRCm39) T132I probably damaging Het
Timd6 C T 11: 46,465,433 (GRCm39) S9L unknown Het
Trpm2 T C 10: 77,774,187 (GRCm39) I471V possibly damaging Het
Uap1l1 A G 2: 25,253,361 (GRCm39) M358T probably benign Het
Vmn1r91 A T 7: 19,835,870 (GRCm39) H263L possibly damaging Het
Zfp407 T C 18: 84,579,169 (GRCm39) D648G probably benign Het
Zpbp2 T C 11: 98,445,584 (GRCm39) I150T probably damaging Het
Other mutations in Rassf6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 90,756,784 (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'- GCTGCCTGTTTACTCTGTAGAC -3'
(R):5'- AATGCTCGGATCTTCCTCATGG -3'

Sequencing Primer
(F):5'- TCAGGATAAAGGCCCTTTCG -3'
(R):5'- GCTCGGATCTTCCTCATGGATAAAG -3'
Posted On 2016-11-08