Incidental Mutation 'R7054:Rassf7'
ID 547782
Institutional Source Beutler Lab
Gene Symbol Rassf7
Ensembl Gene ENSMUSG00000038618
Gene Name Ras association (RalGDS/AF-6) domain family (N-terminal) member 7
Synonyms 2400009B11Rik
MMRRC Submission 045151-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R7054 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140795773-140798571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140797556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 256 (H256Q)
Ref Sequence ENSEMBL: ENSMUSP00000147482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026573] [ENSMUST00000046890] [ENSMUST00000127613] [ENSMUST00000133763] [ENSMUST00000141804] [ENSMUST00000148975] [ENSMUST00000153081] [ENSMUST00000170841] [ENSMUST00000209500] [ENSMUST00000210993]
AlphaFold Q9DD19
Predicted Effect probably benign
Transcript: ENSMUST00000026573
SMART Domains Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500

DomainStartEndE-ValueType
coiled coil region 114 170 N/A INTRINSIC
low complexity region 286 298 N/A INTRINSIC
Pfam:LTD 375 482 1.3e-13 PFAM
low complexity region 567 578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000046890
AA Change: H256Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000038444
Gene: ENSMUSG00000038618
AA Change: H256Q

DomainStartEndE-ValueType
RA 6 89 1.67e-19 SMART
low complexity region 181 215 N/A INTRINSIC
low complexity region 217 244 N/A INTRINSIC
coiled coil region 259 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127613
Predicted Effect probably benign
Transcript: ENSMUST00000133763
SMART Domains Protein: ENSMUSP00000118313
Gene: ENSMUSG00000038618

DomainStartEndE-ValueType
RA 6 89 1.67e-19 SMART
low complexity region 181 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141804
SMART Domains Protein: ENSMUSP00000115948
Gene: ENSMUSG00000038618

DomainStartEndE-ValueType
RA 6 89 1.67e-19 SMART
low complexity region 181 215 N/A INTRINSIC
low complexity region 217 243 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000148975
AA Change: H60Q
SMART Domains Protein: ENSMUSP00000118078
Gene: ENSMUSG00000038618
AA Change: H60Q

DomainStartEndE-ValueType
Blast:RA 6 35 5e-13 BLAST
PDB:2CS4|A 7 35 2e-11 PDB
low complexity region 36 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153081
SMART Domains Protein: ENSMUSP00000123128
Gene: ENSMUSG00000038618

DomainStartEndE-ValueType
RA 6 89 1.67e-19 SMART
low complexity region 181 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170841
SMART Domains Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500

DomainStartEndE-ValueType
coiled coil region 124 180 N/A INTRINSIC
low complexity region 296 308 N/A INTRINSIC
SCOP:d1ifra_ 385 487 1e-22 SMART
low complexity region 577 588 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209500
AA Change: H256Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000210993
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (67/71)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T A 4: 88,786,486 (GRCm39) H44L unknown Het
Abcc3 T C 11: 94,256,051 (GRCm39) K478R probably benign Het
Ank2 A T 3: 126,736,952 (GRCm39) probably benign Het
Apod A G 16: 31,129,950 (GRCm39) V2A probably benign Het
Armh4 C A 14: 50,011,155 (GRCm39) S184I probably damaging Het
Aspg T A 12: 112,092,824 (GRCm39) D530E probably damaging Het
Atxn7 A T 14: 14,100,878 (GRCm38) T855S probably benign Het
Blmh G C 11: 76,859,451 (GRCm39) G351R probably damaging Het
Cc2d2a C T 5: 43,857,321 (GRCm39) R454* probably null Het
Cenpp T C 13: 49,619,233 (GRCm39) E188G probably damaging Het
Cimip3 A G 17: 47,748,114 (GRCm39) probably null Het
Creg2 T C 1: 39,662,376 (GRCm39) E252G probably benign Het
Dot1l A G 10: 80,622,857 (GRCm39) Y636C probably damaging Het
Dpy30 A G 17: 74,614,835 (GRCm39) I36T probably benign Het
Eed A G 7: 89,613,935 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,353 (GRCm39) D351G unknown Het
Fra10ac1 C T 19: 38,212,567 (GRCm39) probably benign Het
Gdpd4 T A 7: 97,623,136 (GRCm39) I249N probably damaging Het
Glb1l2 A T 9: 26,676,423 (GRCm39) V600D probably null Het
Gm13889 A T 2: 93,787,459 (GRCm39) probably benign Het
Gm17654 T A 14: 43,813,327 (GRCm39) N188Y Het
Gm3327 T C 14: 44,363,732 (GRCm39) F112S Het
H2-Ab1 T C 17: 34,482,316 (GRCm39) S11P probably benign Het
Hcn4 T C 9: 58,763,000 (GRCm39) S522P unknown Het
Hfm1 T C 5: 107,043,909 (GRCm39) T576A probably benign Het
Hoxa1 A G 6: 52,135,180 (GRCm39) S8P probably damaging Het
Hoxd13 A G 2: 74,499,369 (GRCm39) Y239C probably damaging Het
Ifih1 T A 2: 62,440,859 (GRCm39) I485L probably benign Het
Ift52 G A 2: 162,871,716 (GRCm39) V183M probably damaging Het
Ikbkb A G 8: 23,161,658 (GRCm39) V410A possibly damaging Het
Il22ra1 G A 4: 135,478,473 (GRCm39) V515I probably benign Het
Klk1b3 A T 7: 43,850,863 (GRCm39) I132F probably damaging Het
Limk2 T C 11: 3,305,448 (GRCm39) T206A possibly damaging Het
Llph A T 10: 120,067,240 (GRCm39) probably benign Het
Lrrc26 T A 2: 25,180,087 (GRCm39) D29E probably benign Het
Ltbp4 A G 7: 27,007,191 (GRCm39) probably null Het
Mageb3 A T 2: 121,784,973 (GRCm39) V243E probably damaging Het
Mfhas1 T C 8: 36,055,792 (GRCm39) V89A probably benign Het
Mycbp2 G A 14: 103,393,534 (GRCm39) T2899I possibly damaging Het
Nckap5 A T 1: 126,186,449 (GRCm39) probably null Het
Ncor1 T C 11: 62,275,619 (GRCm39) D530G probably null Het
Or10ag55-ps1 T A 2: 87,114,775 (GRCm39) M47K probably benign Het
Or56a3b C T 7: 104,771,170 (GRCm39) R169* probably null Het
Pax4 A G 6: 28,446,322 (GRCm39) I57T probably damaging Het
Peg12 T C 7: 62,113,711 (GRCm39) I129V possibly damaging Het
Pex6 G A 17: 47,031,447 (GRCm39) A416T probably benign Het
Pgghg G A 7: 140,524,631 (GRCm39) R326H probably benign Het
Pgk2 T A 17: 40,519,366 (GRCm39) M21L probably benign Het
Polh A T 17: 46,509,642 (GRCm39) W64R probably benign Het
Rc3h2 A G 2: 37,265,258 (GRCm39) M1184T probably benign Het
Ror1 A T 4: 100,299,436 (GRCm39) E936D probably benign Het
Skic3 G A 13: 76,283,079 (GRCm39) A769T probably damaging Het
Slco1b2 A T 6: 141,617,974 (GRCm39) T440S probably damaging Het
Specc1 T A 11: 62,008,604 (GRCm39) V40E probably damaging Het
Tarbp1 T A 8: 127,201,234 (GRCm39) S191C possibly damaging Het
Timm22 A G 11: 76,298,071 (GRCm39) E14G possibly damaging Het
Tpp2 T A 1: 44,022,318 (GRCm39) D905E probably damaging Het
Trav7-5 T C 14: 53,768,756 (GRCm39) L108P probably damaging Het
Ttc9b A G 7: 27,353,667 (GRCm39) T106A probably benign Het
Ttn T C 2: 76,545,012 (GRCm39) S32697G probably damaging Het
Usp17la T G 7: 104,510,514 (GRCm39) L373R probably benign Het
Vmn1r113 A G 7: 20,521,427 (GRCm39) N73S probably benign Het
Vmn1r42 T C 6: 89,822,051 (GRCm39) T173A possibly damaging Het
Vmn2r106 A G 17: 20,499,182 (GRCm39) V243A probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r25 T A 6: 123,800,569 (GRCm39) D591V probably damaging Het
Zc3h13 T C 14: 75,559,227 (GRCm39) S379P probably benign Het
Zfp870 T C 17: 33,102,456 (GRCm39) Y292C probably damaging Het
Zfp977 A T 7: 42,229,786 (GRCm39) N246K possibly damaging Het
Zp1 G A 19: 10,896,104 (GRCm39) T207M probably damaging Het
Other mutations in Rassf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02098:Rassf7 APN 7 140,798,203 (GRCm39) missense possibly damaging 0.95
R0883:Rassf7 UTSW 7 140,796,903 (GRCm39) splice site probably benign
R1275:Rassf7 UTSW 7 140,797,060 (GRCm39) missense probably damaging 1.00
R1616:Rassf7 UTSW 7 140,796,645 (GRCm39) missense probably damaging 1.00
R5546:Rassf7 UTSW 7 140,796,973 (GRCm39) splice site probably null
R5597:Rassf7 UTSW 7 140,797,024 (GRCm39) missense probably damaging 1.00
R5663:Rassf7 UTSW 7 140,797,003 (GRCm39) missense probably damaging 1.00
R6250:Rassf7 UTSW 7 140,797,156 (GRCm39) missense probably damaging 0.98
R6806:Rassf7 UTSW 7 140,796,722 (GRCm39) missense probably damaging 1.00
R6817:Rassf7 UTSW 7 140,797,360 (GRCm39) missense probably damaging 1.00
R6962:Rassf7 UTSW 7 140,797,503 (GRCm39) missense possibly damaging 0.86
R7562:Rassf7 UTSW 7 140,797,101 (GRCm39) nonsense probably null
R7682:Rassf7 UTSW 7 140,797,847 (GRCm39) missense probably damaging 1.00
R9308:Rassf7 UTSW 7 140,798,063 (GRCm39) missense probably benign
R9508:Rassf7 UTSW 7 140,796,924 (GRCm39) nonsense probably null
X0026:Rassf7 UTSW 7 140,798,045 (GRCm39) nonsense probably null
Z1088:Rassf7 UTSW 7 140,797,058 (GRCm39) missense probably damaging 1.00
Z1177:Rassf7 UTSW 7 140,798,198 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- TGCAGGACCTAGAACTCAGG -3'
(R):5'- TACAGTATGCTCCCTGGTCTG -3'

Sequencing Primer
(F):5'- CACTGAGGAGCTAGGCCATG -3'
(R):5'- GGTCTGATTCTCTAACAGATCCC -3'
Posted On 2019-05-13