Incidental Mutation 'IGL02221:Ngef'
ID 285133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ngef
Ensembl Gene ENSMUSG00000026259
Gene Name neuronal guanine nucleotide exchange factor
Synonyms ephexin, Tims2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02221
Quality Score
Status
Chromosome 1
Chromosomal Location 87404556-87501592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87468418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 114 (T114A)
Ref Sequence ENSEMBL: ENSMUSP00000066894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068681] [ENSMUST00000166055]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068681
AA Change: T114A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: T114A

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 probably benign
Transcript: ENSMUST00000166055
SMART Domains Protein: ENSMUSP00000132099
Gene: ENSMUSG00000079434

DomainStartEndE-ValueType
Pfam:BNR_2 32 110 8e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172004
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,333,907 (GRCm39) I24M probably benign Het
Ano5 G A 7: 51,220,071 (GRCm39) D390N probably damaging Het
Atp2c2 A G 8: 120,471,073 (GRCm39) Y407C probably damaging Het
B430306N03Rik T C 17: 48,631,223 (GRCm39) probably benign Het
Cd44 A T 2: 102,676,858 (GRCm39) M269K probably benign Het
Cdin1 T C 2: 115,469,547 (GRCm39) probably null Het
Cpped1 G T 16: 11,646,392 (GRCm39) P144Q probably damaging Het
Epas1 C T 17: 87,135,275 (GRCm39) T636M possibly damaging Het
Hsd17b3 G T 13: 64,236,865 (GRCm39) H26Q probably benign Het
Ighv8-9 A G 12: 115,431,947 (GRCm39) probably benign Het
Itih1 A T 14: 30,651,544 (GRCm39) C883S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lcn3 A T 2: 25,656,172 (GRCm39) M76L probably benign Het
Lin9 A T 1: 180,478,399 (GRCm39) M53L probably benign Het
Mast1 A G 8: 85,645,384 (GRCm39) V687A possibly damaging Het
Mmd2 C T 5: 142,555,212 (GRCm39) probably benign Het
Mroh2b T C 15: 4,953,123 (GRCm39) L619S probably damaging Het
Nlrp12 T C 7: 3,289,597 (GRCm39) D305G possibly damaging Het
Nlrp1a A T 11: 71,013,944 (GRCm39) F435L possibly damaging Het
Nup188 A G 2: 30,220,653 (GRCm39) I909V possibly damaging Het
Osbpl3 A C 6: 50,304,347 (GRCm39) probably benign Het
P2ry2 G T 7: 100,647,321 (GRCm39) P328H possibly damaging Het
Prex2 A T 1: 11,131,569 (GRCm39) N46I probably benign Het
Prss42 T C 9: 110,632,243 (GRCm39) F325L possibly damaging Het
Reep5 A G 18: 34,482,850 (GRCm39) F120L probably damaging Het
Scg3 G T 9: 75,590,939 (GRCm39) F23L probably damaging Het
Scx A G 15: 76,343,295 (GRCm39) D200G probably benign Het
Setd5 C T 6: 113,098,131 (GRCm39) probably benign Het
Tcf4 T A 18: 69,480,438 (GRCm39) S23R probably damaging Het
Ttc4 A G 4: 106,533,793 (GRCm39) probably null Het
Tyro3 T A 2: 119,643,071 (GRCm39) C627S probably benign Het
Yipf2 T C 9: 21,502,764 (GRCm39) N106S possibly damaging Het
Zfp619 T C 7: 39,186,334 (GRCm39) L788P probably benign Het
Zfp831 G A 2: 174,485,519 (GRCm39) V65I probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign Het
Other mutations in Ngef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Ngef APN 1 87,406,872 (GRCm39) missense possibly damaging 0.79
IGL02478:Ngef APN 1 87,408,301 (GRCm39) splice site probably benign
IGL03002:Ngef APN 1 87,437,114 (GRCm39) splice site probably null
H8562:Ngef UTSW 1 87,415,529 (GRCm39) missense possibly damaging 0.84
R0078:Ngef UTSW 1 87,468,387 (GRCm39) missense probably benign 0.12
R0145:Ngef UTSW 1 87,468,370 (GRCm39) intron probably benign
R0193:Ngef UTSW 1 87,437,056 (GRCm39) missense probably benign 0.03
R0244:Ngef UTSW 1 87,415,684 (GRCm39) unclassified probably benign
R0486:Ngef UTSW 1 87,406,848 (GRCm39) missense probably damaging 1.00
R0865:Ngef UTSW 1 87,412,323 (GRCm39) missense probably benign
R1824:Ngef UTSW 1 87,430,986 (GRCm39) critical splice donor site probably null
R1994:Ngef UTSW 1 87,415,626 (GRCm39) missense probably damaging 1.00
R2020:Ngef UTSW 1 87,473,690 (GRCm39) missense probably benign 0.43
R4059:Ngef UTSW 1 87,413,953 (GRCm39) missense probably damaging 0.99
R4770:Ngef UTSW 1 87,405,283 (GRCm39) missense probably damaging 1.00
R4959:Ngef UTSW 1 87,431,070 (GRCm39) missense possibly damaging 0.68
R5197:Ngef UTSW 1 87,437,090 (GRCm39) nonsense probably null
R5286:Ngef UTSW 1 87,473,552 (GRCm39) missense probably benign
R5293:Ngef UTSW 1 87,431,151 (GRCm39) small deletion probably benign
R6065:Ngef UTSW 1 87,405,370 (GRCm39) missense probably damaging 1.00
R6192:Ngef UTSW 1 87,415,622 (GRCm39) missense probably damaging 0.98
R6925:Ngef UTSW 1 87,430,985 (GRCm39) splice site probably null
R7176:Ngef UTSW 1 87,408,417 (GRCm39) missense possibly damaging 0.94
R7437:Ngef UTSW 1 87,408,327 (GRCm39) missense probably damaging 0.98
R7760:Ngef UTSW 1 87,468,495 (GRCm39) missense probably benign 0.00
R8058:Ngef UTSW 1 87,473,744 (GRCm39) nonsense probably null
R8142:Ngef UTSW 1 87,468,463 (GRCm39) missense probably benign
R8154:Ngef UTSW 1 87,468,482 (GRCm39) missense probably benign
R8697:Ngef UTSW 1 87,417,459 (GRCm39) missense probably damaging 0.99
R8769:Ngef UTSW 1 87,408,883 (GRCm39) missense probably damaging 1.00
R8784:Ngef UTSW 1 87,405,293 (GRCm39) missense probably damaging 1.00
R8790:Ngef UTSW 1 87,405,319 (GRCm39) missense probably benign 0.10
R8907:Ngef UTSW 1 87,405,376 (GRCm39) missense probably damaging 1.00
R9047:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
R9050:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
R9169:Ngef UTSW 1 87,473,581 (GRCm39) missense probably benign 0.43
R9198:Ngef UTSW 1 87,406,797 (GRCm39) missense unknown
R9434:Ngef UTSW 1 87,408,315 (GRCm39) missense possibly damaging 0.89
R9466:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
R9650:Ngef UTSW 1 87,415,552 (GRCm39) missense possibly damaging 0.90
R9704:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
R9705:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
R9715:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
R9721:Ngef UTSW 1 87,406,857 (GRCm39) missense probably damaging 1.00
R9727:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
R9750:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
R9771:Ngef UTSW 1 87,431,010 (GRCm39) missense probably damaging 0.96
Z1177:Ngef UTSW 1 87,410,431 (GRCm39) missense possibly damaging 0.80
Posted On 2015-04-16