Incidental Mutation 'IGL03224:Rasgef1a'
ID 413752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgef1a
Ensembl Gene ENSMUSG00000030134
Gene Name RasGEF domain family, member 1A
Synonyms 6330404M18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03224
Quality Score
Status
Chromosome 6
Chromosomal Location 117988466-118068507 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 118066767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164960] [ENSMUST00000203482] [ENSMUST00000203804]
AlphaFold A0A0N4SVR5
Predicted Effect probably benign
Transcript: ENSMUST00000164960
SMART Domains Protein: ENSMUSP00000132244
Gene: ENSMUSG00000030134

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
SMART Domains Protein: ENSMUSP00000145077
Gene: ENSMUSG00000030134

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
SMART Domains Protein: ENSMUSP00000145214
Gene: ENSMUSG00000030134

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ash1l T C 3: 88,942,575 (GRCm39) probably benign Het
Capn10 T G 1: 92,867,046 (GRCm39) V92G probably damaging Het
Cntn2 A G 1: 132,450,780 (GRCm39) C532R probably damaging Het
Csf1r T C 18: 61,245,134 (GRCm39) F233L probably damaging Het
Cts6 T C 13: 61,349,547 (GRCm39) D82G probably damaging Het
Cym T C 3: 107,126,048 (GRCm39) S72G possibly damaging Het
Cyp4a29 T A 4: 115,104,247 (GRCm39) M105K probably damaging Het
Dhx35 T C 2: 158,699,052 (GRCm39) probably benign Het
Dnah5 C A 15: 28,459,300 (GRCm39) D4506E probably damaging Het
Dok5 T C 2: 170,674,807 (GRCm39) F139L possibly damaging Het
Dync2h1 T C 9: 7,076,235 (GRCm39) D2974G probably benign Het
Frem3 C T 8: 81,340,092 (GRCm39) T795I probably damaging Het
Ints6l A G X: 55,543,287 (GRCm39) T525A probably damaging Het
Lrp1b T C 2: 41,361,043 (GRCm39) T587A possibly damaging Het
Meikin A G 11: 54,289,286 (GRCm39) M220V probably benign Het
Mmp12 T A 9: 7,350,002 (GRCm39) probably benign Het
Mpp7 T C 18: 7,403,269 (GRCm39) D347G probably benign Het
Myo3b A G 2: 70,180,283 (GRCm39) Y1190C probably benign Het
Myo5c A G 9: 75,185,525 (GRCm39) K963E probably benign Het
Nipbl T C 15: 8,322,569 (GRCm39) D2614G probably damaging Het
Ppp1r3f A G X: 7,426,821 (GRCm39) V480A probably benign Het
Prkcb A T 7: 122,116,147 (GRCm39) K209* probably null Het
Ryr3 A T 2: 112,784,681 (GRCm39) C233* probably null Het
Scn8a A G 15: 100,933,520 (GRCm39) R1534G probably damaging Het
Slitrk3 A T 3: 72,957,263 (GRCm39) L503H possibly damaging Het
Spag17 A G 3: 99,918,156 (GRCm39) K380E possibly damaging Het
Spata31d1a A G 13: 59,848,840 (GRCm39) V1096A possibly damaging Het
Synrg C T 11: 83,930,492 (GRCm39) T1278M possibly damaging Het
Teddm1a G T 1: 153,767,763 (GRCm39) V76F possibly damaging Het
Troap A G 15: 98,979,758 (GRCm39) T365A probably benign Het
Vps35l A G 7: 118,391,776 (GRCm39) probably benign 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
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
R5862:Rasgef1a UTSW 6 118,057,405 (GRCm39) missense probably benign 0.43
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
Posted On 2016-08-02