Incidental Mutation 'R5862:Rasgef1a'
ID 453960
Institutional Source Beutler Lab
Gene Symbol Rasgef1a
Ensembl Gene ENSMUSG00000030134
Gene Name RasGEF domain family, member 1A
Synonyms 6330404M18Rik
MMRRC Submission 043231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5862 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 117988466-118068507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 118057405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 35 (R35S)
Ref Sequence ENSEMBL: ENSMUSP00000145077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164960] [ENSMUST00000203482] [ENSMUST00000203804]
AlphaFold A0A0N4SVR5
Predicted Effect probably benign
Transcript: ENSMUST00000164960
AA Change: R27S

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132244
Gene: ENSMUSG00000030134
AA Change: R27S

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
RasGEFN 49 178 1.69e-3 SMART
RasGEF 218 470 7.23e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184597
Predicted Effect probably benign
Transcript: ENSMUST00000203482
AA Change: R35S

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145077
Gene: ENSMUSG00000030134
AA Change: R35S

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
RasGEFN 49 178 1.69e-3 SMART
RasGEF 218 470 7.23e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203804
AA Change: R35S

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145214
Gene: ENSMUSG00000030134
AA Change: R35S

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
RasGEFN 49 177 1.3e-5 SMART
low complexity region 184 199 N/A INTRINSIC
RasGEF 227 479 4.5e-54 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,615,895 (GRCm39) Y326H probably damaging Het
Alpk2 T A 18: 65,440,360 (GRCm39) K811N probably damaging Het
Ap3b1 T A 13: 94,684,278 (GRCm39) M1014K unknown Het
Bphl G A 13: 34,247,967 (GRCm39) V247I possibly damaging Het
C6 A T 15: 4,764,745 (GRCm39) D147V possibly damaging Het
Clec18a G A 8: 111,808,190 (GRCm39) H71Y possibly damaging Het
Cse1l A G 2: 166,757,127 (GRCm39) T10A probably benign Het
Cyp2b9 G T 7: 25,887,232 (GRCm39) G214C probably benign Het
Dctn6 A T 8: 34,575,571 (GRCm39) probably null Het
Dnaja4 G T 9: 54,606,625 (GRCm39) probably benign Het
Dpp8 A T 9: 64,953,004 (GRCm39) S227C probably benign Het
Ecel1 T C 1: 87,077,318 (GRCm39) N630S probably benign Het
Etnppl T C 3: 130,425,473 (GRCm39) V426A possibly damaging Het
Golgb1 A T 16: 36,746,453 (GRCm39) silent Het
Hapln3 A T 7: 78,771,639 (GRCm39) H83Q possibly damaging Het
Hmgxb4 A G 8: 75,727,683 (GRCm39) K222R probably damaging Het
Hsf5 C A 11: 87,513,817 (GRCm39) T294K probably damaging Het
Ighv12-2 A G 12: 114,091,557 (GRCm39) noncoding transcript Het
Lrch3 A T 16: 32,816,179 (GRCm39) H587L probably damaging Het
Macroh2a1 T A 13: 56,222,084 (GRCm39) I359L probably damaging Het
Mboat1 C T 13: 30,419,680 (GRCm39) T339M probably damaging Het
Mief1 G A 15: 80,132,586 (GRCm39) R156Q probably benign Het
Ms4a6b T A 19: 11,499,167 (GRCm39) F94I probably benign Het
Neb T A 2: 52,069,554 (GRCm39) R307* probably null Het
Neu4 A G 1: 93,950,652 (GRCm39) I147V probably benign Het
Or5m9b T C 2: 85,905,990 (GRCm39) I302T probably benign Het
Pcyox1 A G 6: 86,368,656 (GRCm39) probably null Het
Pik3ap1 T A 19: 41,320,784 (GRCm39) D145V probably damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Plekhg1 C T 10: 3,887,914 (GRCm39) T281M probably damaging Het
Ptprq T C 10: 107,401,739 (GRCm39) I1918V probably benign Het
Rnf167 A G 11: 70,541,918 (GRCm39) T308A probably damaging Het
Sfmbt2 C T 2: 10,406,863 (GRCm39) T54I possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shkbp1 G T 7: 27,042,829 (GRCm39) S536* probably null Het
Taf2 C A 15: 54,911,719 (GRCm39) V566L possibly damaging Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Tyms A T 5: 30,268,408 (GRCm39) D97E probably damaging Het
Usp20 T A 2: 30,896,461 (GRCm39) L188* probably null Het
Zbtb10 T A 3: 9,330,276 (GRCm39) S545T probably damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Rasgef1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Rasgef1a APN 6 118,065,164 (GRCm39) missense probably damaging 1.00
IGL01292:Rasgef1a APN 6 118,057,344 (GRCm39) missense possibly damaging 0.51
IGL01457:Rasgef1a APN 6 118,061,506 (GRCm39) missense probably benign 0.36
IGL02045:Rasgef1a APN 6 118,066,404 (GRCm39) missense probably benign
IGL02502:Rasgef1a APN 6 118,057,443 (GRCm39) missense probably benign 0.00
IGL02902:Rasgef1a APN 6 118,060,068 (GRCm39) missense probably benign 0.10
IGL03224:Rasgef1a APN 6 118,066,767 (GRCm39) splice site probably benign
R2001:Rasgef1a UTSW 6 118,066,157 (GRCm39) missense probably benign 0.01
R4477:Rasgef1a UTSW 6 118,062,436 (GRCm39) missense possibly damaging 0.59
R4863:Rasgef1a UTSW 6 118,066,100 (GRCm39) missense probably benign 0.00
R5422:Rasgef1a UTSW 6 118,065,095 (GRCm39) missense probably damaging 1.00
R5911:Rasgef1a UTSW 6 118,061,335 (GRCm39) splice site probably null
R5914:Rasgef1a UTSW 6 118,057,515 (GRCm39) missense possibly damaging 0.89
R6788:Rasgef1a UTSW 6 118,064,174 (GRCm39) missense possibly damaging 0.93
R8680:Rasgef1a UTSW 6 118,064,088 (GRCm39) missense probably damaging 1.00
R9227:Rasgef1a UTSW 6 118,066,110 (GRCm39) missense possibly damaging 0.52
R9273:Rasgef1a UTSW 6 118,063,223 (GRCm39) missense probably benign
R9509:Rasgef1a UTSW 6 118,061,391 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATTCTCATCAGAGCTGCAGC -3'
(R):5'- GAAGATTTCCCCTCCCAGTCAC -3'

Sequencing Primer
(F):5'- TCATCAGAGCTGCAGCATCTG -3'
(R):5'- CCCAGTCACTTGCTGTTGC -3'
Posted On 2017-02-10