Incidental Mutation 'R2001:Rasgef1a'
ID225928
Institutional Source Beutler Lab
Gene Symbol Rasgef1a
Ensembl Gene ENSMUSG00000030134
Gene NameRasGEF domain family, member 1A
Synonyms6330404M18Rik
MMRRC Submission 040011-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2001 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location118011438-118091546 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 118089196 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 457 (V457M)
Ref Sequence ENSEMBL: ENSMUSP00000145214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164960] [ENSMUST00000203482] [ENSMUST00000203804]
Predicted Effect probably benign
Transcript: ENSMUST00000164960
AA Change: V440M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132244
Gene: ENSMUSG00000030134
AA Change: V440M

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: V448M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145077
Gene: ENSMUSG00000030134
AA Change: V448M

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: V457M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000145214
Gene: ENSMUSG00000030134
AA Change: V457M

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,741,456 S559P probably benign Het
A430005L14Rik T A 4: 153,959,857 C42S probably damaging Het
Abca13 A T 11: 9,273,967 T449S probably benign Het
Acvr1c T A 2: 58,315,975 Q41L probably benign Het
Adamts13 C T 2: 26,973,990 P60L probably benign Het
Adamts20 T C 15: 94,347,718 T568A possibly damaging Het
Ago1 T C 4: 126,454,394 I44V probably null Het
Agtpbp1 TGAAGATGCATCTTGAGAAGA TGAAGA 13: 59,475,803 probably null Het
Ankrd28 A T 14: 31,745,336 V39E possibly damaging Het
Apaf1 A G 10: 91,061,814 V269A possibly damaging Het
Asna1 T C 8: 85,025,160 S36G probably damaging Het
Astn1 A G 1: 158,520,521 N506D probably damaging Het
BC051019 G A 7: 109,720,551 Q102* probably null Het
Bpifb5 A G 2: 154,233,279 T376A possibly damaging Het
Ccdc121 G T 1: 181,510,986 Q134K probably benign Het
Ccl20 ATT ATTT 1: 83,117,855 probably null Het
Ccl6 G T 11: 83,589,337 P68T possibly damaging Het
Cd300ld A T 11: 114,987,330 F119I probably benign Het
Cdk2ap2 A G 19: 4,097,903 M57V possibly damaging Het
Chkb C T 15: 89,428,766 G36E probably damaging Het
Col11a1 A G 3: 114,165,293 probably null Het
Ctla2b T C 13: 60,896,067 Y120C probably damaging Het
Ctnnd1 T C 2: 84,620,360 N172S probably benign Het
Cyp2a22 G A 7: 26,934,772 P319L probably damaging Het
Dcaf12 A C 4: 41,302,804 V117G probably damaging Het
Ddx6 A G 9: 44,607,534 T48A probably benign Het
Dgki T C 6: 36,865,801 D923G possibly damaging Het
Dhx37 G T 5: 125,427,464 T345K probably damaging Het
Dhx9 A T 1: 153,456,111 Y1370* probably null Het
Dnah7b T C 1: 46,142,087 S1045P possibly damaging Het
Dnmbp G C 19: 43,850,173 T1071S possibly damaging Het
Dspp T A 5: 104,178,559 S929R unknown Het
Dst A T 1: 34,184,063 E1625D probably damaging Het
Egflam T A 15: 7,242,567 H630L probably benign Het
Elane T C 10: 79,887,759 V186A possibly damaging Het
Fam209 C A 2: 172,472,769 N59K probably benign Het
Gbe1 A G 16: 70,528,926 E617G probably damaging Het
Gfra1 A G 19: 58,300,275 L246P probably damaging Het
Gm14139 T A 2: 150,192,947 M396K probably benign Het
Gria2 T C 3: 80,710,805 T308A probably benign Het
Grip2 A T 6: 91,779,850 V540D probably benign Het
Hhipl1 A T 12: 108,321,859 I575F possibly damaging Het
Hmcn1 T A 1: 150,738,613 E1347D possibly damaging Het
Itga2b C A 11: 102,467,339 A187S probably benign Het
Kalrn C A 16: 34,028,045 R469M probably damaging Het
Kif23 A T 9: 61,927,384 C426* probably null Het
Lck T C 4: 129,548,937 N475S probably benign Het
Leng8 A G 7: 4,145,074 N642S probably damaging Het
Lingo4 T A 3: 94,403,075 I440N probably damaging Het
Lrrc4 A G 6: 28,830,905 F237S probably damaging Het
Magel2 G A 7: 62,379,096 V583I unknown Het
Naip2 A T 13: 100,144,588 I1316N probably damaging Het
Naip6 C T 13: 100,300,729 G429S probably benign Het
Noct C T 3: 51,248,044 R78C probably damaging Het
Npbwr1 A G 1: 5,917,175 V40A possibly damaging Het
Nsd2 A G 5: 33,843,402 N88D probably damaging Het
Olfr1020 T A 2: 85,850,400 V316E probably benign Het
Olfr1066 T C 2: 86,455,473 H266R probably benign Het
Olfr389 T A 11: 73,776,713 I205F probably benign Het
Olfr800 T A 10: 129,660,421 I205N probably benign Het
Pak7 T A 2: 136,116,637 H177L probably benign Het
Pard3 C T 8: 127,064,347 probably null Het
Pde4c A G 8: 70,747,358 probably null Het
Pde6h T A 6: 136,963,205 I63N probably damaging Het
Phldb2 T C 16: 45,774,195 K916E possibly damaging Het
Ppig T C 2: 69,741,644 S236P unknown Het
Ptprd T C 4: 75,954,122 Y1370C probably damaging Het
Pzp T C 6: 128,516,120 T352A probably benign Het
Rab3gap1 A G 1: 127,903,719 Y177C possibly damaging Het
Scel A T 14: 103,610,790 T616S possibly damaging Het
Sel1l A T 12: 91,826,550 Y228* probably null Het
Sgms1 A G 19: 32,159,683 V161A possibly damaging Het
Slfnl1 T C 4: 120,533,227 L25P probably benign Het
Smad5 A G 13: 56,737,374 T432A probably damaging Het
Sohlh2 T C 3: 55,192,341 probably null Het
Sphkap A T 1: 83,276,662 M835K probably damaging Het
Sqor A C 2: 122,798,098 T174P probably damaging Het
Stkld1 T C 2: 26,952,747 V577A probably damaging Het
Sulf2 T A 2: 166,080,853 E652D probably benign Het
Sycp2 T A 2: 178,378,055 Q556L probably benign Het
Syk A G 13: 52,611,238 T134A probably benign Het
Tas2r122 T A 6: 132,711,622 I103F possibly damaging Het
Tex10 A G 4: 48,451,940 W729R probably damaging Het
Tex261 G T 6: 83,773,731 P95T probably damaging Het
Tm2d2 T C 8: 25,017,507 S47P probably benign Het
Tmem2 A G 19: 21,801,987 D387G probably benign Het
Tmem95 A G 11: 69,876,991 S128P probably damaging Het
Tnxb G A 17: 34,692,579 A1619T possibly damaging Het
Trappc9 A G 15: 73,058,036 I157T probably damaging Het
Unc13c T A 9: 73,483,615 probably null Het
Upb1 A T 10: 75,429,969 Y210F probably damaging Het
Urb1 T C 16: 90,762,344 M1684V probably benign Het
Wnk2 G A 13: 49,078,682 P727S possibly damaging Het
Zfp551 A T 7: 12,416,349 S378T probably damaging Het
Zfp598 T C 17: 24,669,924 V56A possibly damaging Het
Zfp945 C T 17: 22,857,249 probably null Het
Other mutations in Rasgef1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Rasgef1a APN 6 118088203 missense probably damaging 1.00
IGL01292:Rasgef1a APN 6 118080383 missense possibly damaging 0.51
IGL01457:Rasgef1a APN 6 118084545 missense probably benign 0.36
IGL02045:Rasgef1a APN 6 118089443 missense probably benign
IGL02502:Rasgef1a APN 6 118080482 missense probably benign 0.00
IGL02902:Rasgef1a APN 6 118083107 missense probably benign 0.10
IGL03224:Rasgef1a APN 6 118089806 splice site probably benign
R4477:Rasgef1a UTSW 6 118085475 missense possibly damaging 0.59
R4863:Rasgef1a UTSW 6 118089139 missense probably benign 0.00
R5422:Rasgef1a UTSW 6 118088134 missense probably damaging 1.00
R5862:Rasgef1a UTSW 6 118080444 missense probably benign 0.43
R5911:Rasgef1a UTSW 6 118084374 intron probably null
R5914:Rasgef1a UTSW 6 118080554 missense possibly damaging 0.89
R6788:Rasgef1a UTSW 6 118087213 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CAGCAGCAGATACAGTGACG -3'
(R):5'- TCACTTTCAAAGGAGGCGATG -3'

Sequencing Primer
(F):5'- ATACAGTGACGAGGCCCTG -3'
(R):5'- ACAGGTGGATTGCCCTTCCAG -3'
Posted On2014-08-25