Incidental Mutation 'IGL02475:Ngef'
ID294895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ngef
Ensembl Gene ENSMUSG00000026259
Gene Nameneuronal guanine nucleotide exchange factor
SynonymsTims2, ephexin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02475
Quality Score
Status
Chromosome1
Chromosomal Location87476834-87573870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 87479150 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 632 (T632K)
Ref Sequence ENSEMBL: ENSMUSP00000066894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027476] [ENSMUST00000027477] [ENSMUST00000068681]
Predicted Effect probably benign
Transcript: ENSMUST00000027476
SMART Domains Protein: ENSMUSP00000027476
Gene: ENSMUSG00000026258

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:DUF4690 26 121 7.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027477
AA Change: T542K

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
AA Change: T542K

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 15 28 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
RhoGEF 187 366 8.16e-46 SMART
PH 400 513 1.2e-7 SMART
SH3 525 582 8.43e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000068681
AA Change: T632K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: T632K

DomainStartEndE-ValueType
low complexity region 213 226 N/A INTRINSIC
RhoGEF 277 456 8.16e-46 SMART
PH 490 603 1.2e-7 SMART
SH3 615 672 8.43e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166463
Predicted Effect unknown
Transcript: ENSMUST00000168235
AA Change: T215K
SMART Domains Protein: ENSMUSP00000127674
Gene: ENSMUSG00000026259
AA Change: T215K

DomainStartEndE-ValueType
Blast:RhoGEF 2 40 1e-16 BLAST
PH 74 187 1.2e-7 SMART
Blast:SH3 199 232 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191095
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show no overt axonal phenotype; however, cultured retinal ganglion cells display defects in axonal outgrowth and ephrin-induced growth cone collapse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,533 probably benign Het
5730409E04Rik A G 4: 126,611,949 E90G probably damaging Het
Abhd6 T A 14: 8,039,849 I27N probably damaging Het
Akap6 A T 12: 53,139,494 E1230D probably benign Het
Bcl2l12 A G 7: 44,996,893 V31A possibly damaging Het
Cep350 G A 1: 155,862,595 R2501W probably damaging Het
Cnga3 A G 1: 37,257,991 probably null Het
Crcp T C 5: 130,059,858 probably benign Het
Creb5 G A 6: 53,693,924 S304N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah5 A G 15: 28,219,150 D38G probably benign Het
Fam171a1 A G 2: 3,223,490 I293V possibly damaging Het
Fbxw10 T C 11: 62,857,735 V396A possibly damaging Het
Gm10340 G A 14: 3,140,482 probably benign Het
Gm20390 A G 11: 93,955,574 V16A probably damaging Het
Grik3 A G 4: 125,650,517 T344A probably benign Het
Itga7 T C 10: 128,934,089 F34S probably damaging Het
Musk T C 4: 58,353,936 probably benign Het
Neb G T 2: 52,292,819 N1038K probably damaging Het
Nf1 T C 11: 79,535,667 Y1636H probably damaging Het
Nts A G 10: 102,490,247 probably benign Het
Olfml2b A G 1: 170,682,174 D697G probably damaging Het
Olfr1031 T C 2: 85,992,032 F72L probably benign Het
Olfr1502 T A 19: 13,862,299 C169S probably damaging Het
Olfr205 A T 16: 59,328,725 H261Q probably benign Het
Otof T C 5: 30,376,682 R1428G probably damaging Het
Pgghg T C 7: 140,945,720 S479P Het
Rnaseh2b T A 14: 62,346,615 F37I probably damaging Het
Rtn4 T A 11: 29,733,801 I1031N probably damaging Het
Rxfp2 A G 5: 150,063,686 E344G probably benign Het
Scel A G 14: 103,537,008 R89G possibly damaging Het
Sirt4 T C 5: 115,482,996 E39G probably benign Het
Slc6a12 T A 6: 121,354,375 probably null Het
Snapc3 C A 4: 83,450,096 H277N probably benign Het
Susd2 A G 10: 75,637,499 probably null Het
Tagap1 T C 17: 6,956,427 Q290R probably benign Het
Tenm3 A T 8: 48,279,198 probably benign Het
Tmem54 A T 4: 129,108,280 H40L probably damaging Het
Tnks1bp1 T C 2: 85,059,377 S683P probably damaging Het
Tnpo2 A G 8: 85,050,502 D547G probably benign Het
Tpd52l2 G A 2: 181,499,874 V17M probably benign Het
Trip11 T A 12: 101,895,683 T208S probably benign Het
Ttc17 C A 2: 94,364,376 D551Y probably damaging Het
Ttll12 A T 15: 83,587,101 W222R probably damaging Het
Xkr8 A T 4: 132,728,201 I287N probably damaging Het
Zdhhc2 G T 8: 40,473,025 G354C probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Ngef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:Ngef APN 1 87540696 missense probably benign 0.06
IGL02478:Ngef APN 1 87480579 splice site probably benign
IGL03002:Ngef APN 1 87509392 splice site probably null
H8562:Ngef UTSW 1 87487807 missense possibly damaging 0.84
R0078:Ngef UTSW 1 87540665 missense probably benign 0.12
R0145:Ngef UTSW 1 87540648 intron probably benign
R0193:Ngef UTSW 1 87509334 missense probably benign 0.03
R0244:Ngef UTSW 1 87487962 unclassified probably benign
R0486:Ngef UTSW 1 87479126 missense probably damaging 1.00
R0865:Ngef UTSW 1 87484601 missense probably benign
R1824:Ngef UTSW 1 87503264 critical splice donor site probably null
R1994:Ngef UTSW 1 87487904 missense probably damaging 1.00
R2020:Ngef UTSW 1 87545968 missense probably benign 0.43
R4059:Ngef UTSW 1 87486231 missense probably damaging 0.99
R4770:Ngef UTSW 1 87477561 missense probably damaging 1.00
R4959:Ngef UTSW 1 87503348 missense possibly damaging 0.68
R5197:Ngef UTSW 1 87509368 nonsense probably null
R5286:Ngef UTSW 1 87545830 missense probably benign
R5293:Ngef UTSW 1 87503429 small deletion probably benign
R6065:Ngef UTSW 1 87477648 missense probably damaging 1.00
R6192:Ngef UTSW 1 87487900 missense probably damaging 0.98
R6925:Ngef UTSW 1 87503263 splice site probably null
R7176:Ngef UTSW 1 87480695 missense possibly damaging 0.94
R7437:Ngef UTSW 1 87480605 missense probably damaging 0.98
R7760:Ngef UTSW 1 87540773 missense probably benign 0.00
R8058:Ngef UTSW 1 87546022 nonsense probably null
R8142:Ngef UTSW 1 87540741 missense probably benign
R8154:Ngef UTSW 1 87540760 missense probably benign
Z1177:Ngef UTSW 1 87482709 missense possibly damaging 0.80
Posted On2015-04-16