Incidental Mutation 'IGL00331:Sergef'
ID5246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sergef
Ensembl Gene ENSMUSG00000030839
Gene Namesecretion regulating guanine nucleotide exchange factor
SynonymsGnefr, Gef, DelGEF
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.266) question?
Stock #IGL00331
Quality Score
Status
Chromosome7
Chromosomal Location46443154-46639807 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 46635420 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033127] [ENSMUST00000135035] [ENSMUST00000216505]
Predicted Effect probably null
Transcript: ENSMUST00000033127
SMART Domains Protein: ENSMUSP00000033127
Gene: ENSMUSG00000030839

DomainStartEndE-ValueType
Pfam:RCC1 16 64 7.3e-13 PFAM
Pfam:RCC1_2 51 80 8e-8 PFAM
Pfam:RCC1 67 116 3.9e-11 PFAM
Pfam:RCC1_2 103 132 6.4e-11 PFAM
Pfam:RCC1 119 168 3.3e-10 PFAM
Pfam:RCC1_2 213 243 2.3e-10 PFAM
Pfam:RCC1 230 279 7.5e-8 PFAM
Pfam:RCC1 283 348 5.8e-12 PFAM
Pfam:RCC1 351 401 7.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125825
Predicted Effect probably null
Transcript: ENSMUST00000135035
SMART Domains Protein: ENSMUSP00000116461
Gene: ENSMUSG00000030839

DomainStartEndE-ValueType
Pfam:RCC1 78 121 1.5e-9 PFAM
Pfam:RCC1_2 108 137 1.8e-8 PFAM
Pfam:RCC1 124 173 2.2e-11 PFAM
Pfam:RCC1_2 160 189 4.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137988
Predicted Effect probably benign
Transcript: ENSMUST00000216505
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,281,436 probably benign Het
Adamts19 T A 18: 59,007,325 probably benign Het
Afg3l1 T A 8: 123,487,389 F190I probably benign Het
Alms1 T A 6: 85,641,371 S2800T possibly damaging Het
Alox5 A T 6: 116,415,517 W348R probably damaging Het
Atp13a5 G A 16: 29,267,014 Q823* probably null Het
Atp6v1b2 T C 8: 69,088,934 probably null Het
Chuk T C 19: 44,088,023 I416M possibly damaging Het
Dmbt1 A T 7: 131,099,290 Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,620 T3873A probably damaging Het
Endog C T 2: 30,172,900 T184M probably damaging Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp T C 7: 28,101,541 probably benign Het
Flii A G 11: 60,715,833 I1061T probably benign Het
Hdac2 T A 10: 36,997,071 N308K probably damaging Het
Hoxa2 T G 6: 52,163,517 Y163S probably damaging Het
Hsd3b7 T C 7: 127,802,972 L263P probably damaging Het
Klf17 T C 4: 117,761,038 T41A probably benign Het
Lrrfip1 T C 1: 91,068,621 M42T probably damaging Het
Mapk8ip1 C T 2: 92,385,188 V614I probably benign Het
Mocs1 T G 17: 49,435,264 probably null Het
Moxd1 T C 10: 24,282,555 probably benign Het
Mterf1a T C 5: 3,891,610 E86G probably damaging Het
Muc4 A G 16: 32,753,185 D1021G probably benign Het
Nomo1 T C 7: 46,045,336 S212P possibly damaging Het
Olfr1471 A G 19: 13,445,624 D204G probably benign Het
Olfr893 T A 9: 38,209,238 Y60N probably damaging Het
Phf21a A C 2: 92,348,029 T385P probably damaging Het
Piwil4 A T 9: 14,715,031 probably benign Het
Pknox1 T C 17: 31,599,645 probably null Het
Prr14l T C 5: 32,831,066 I362V probably benign Het
Sez6l T C 5: 112,424,645 D948G probably damaging Het
Skor1 A T 9: 63,146,441 L54Q probably damaging Het
Sntn C T 14: 13,679,086 Q87* probably null Het
Syde2 A G 3: 146,014,341 K772E possibly damaging Het
Taf2 T A 15: 55,071,449 probably null Het
Tbc1d13 T A 2: 30,140,511 Y113N probably damaging Het
Tmem154 T C 3: 84,684,415 F91L probably benign Het
Tmem63a A G 1: 180,966,497 D533G possibly damaging Het
Tmprss15 A T 16: 78,985,994 N712K possibly damaging Het
Trip12 A T 1: 84,730,541 D603E probably damaging Het
Trmt11 T C 10: 30,566,449 D246G probably damaging Het
Vmn1r174 T A 7: 23,754,533 M208K possibly damaging Het
Wdr54 T C 6: 83,155,773 H33R probably benign Het
Zfp207 A G 11: 80,389,002 D111G probably benign Het
Other mutations in Sergef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Sergef APN 7 46515663 splice site probably null
IGL01529:Sergef APN 7 46443518 missense probably damaging 1.00
IGL03014:Sergef UTSW 7 46590756 missense probably damaging 1.00
R0472:Sergef UTSW 7 46633746 splice site probably benign
R1604:Sergef UTSW 7 46443359 missense probably benign 0.00
R1892:Sergef UTSW 7 46614616 critical splice donor site probably null
R3955:Sergef UTSW 7 46618752 missense possibly damaging 0.95
R4032:Sergef UTSW 7 46443302 nonsense probably null
R4953:Sergef UTSW 7 46633835 missense probably benign 0.01
R5140:Sergef UTSW 7 46635602 intron probably benign
R5533:Sergef UTSW 7 46614776 missense possibly damaging 0.94
R5697:Sergef UTSW 7 46639259 intron probably benign
R5930:Sergef UTSW 7 46443464 missense probably benign 0.03
R6477:Sergef UTSW 7 46633826 missense probably benign 0.19
R6725:Sergef UTSW 7 46632667 unclassified probably null
R7511:Sergef UTSW 7 46614746 missense probably damaging 1.00
Posted On2012-04-20