Incidental Mutation 'R0078:Ngef'
ID 158519
Institutional Source Beutler Lab
Gene Symbol Ngef
Ensembl Gene ENSMUSG00000026259
Gene Name neuronal guanine nucleotide exchange factor
Synonyms ephexin, Tims2
MMRRC Submission 038365-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0078 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87404556-87501592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87468387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 124 (E124G)
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: E124G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: E124G

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
Meta Mutation Damage Score 0.0637 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency 81% (203/250)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,891,129 (GRCm39) Q456L probably benign Het
Abcf1 A G 17: 36,268,954 (GRCm39) probably benign Het
Adamts7 A T 9: 90,061,464 (GRCm39) S357C probably damaging Het
Ankrd26 A G 6: 118,512,030 (GRCm39) probably benign Het
Asb17 T A 3: 153,550,301 (GRCm39) V111E probably damaging Het
C1qtnf4 C A 2: 90,719,893 (GRCm39) N55K probably damaging Het
Cacng5 G T 11: 107,768,259 (GRCm39) D249E probably benign Het
Camkk2 C A 5: 122,895,622 (GRCm39) probably null Het
Ccdc27 T G 4: 154,120,195 (GRCm39) probably benign Het
Cfap251 G A 5: 123,436,633 (GRCm39) R1054H probably benign Het
Cngb1 T A 8: 95,991,173 (GRCm39) probably null Het
Col7a1 A G 9: 108,803,981 (GRCm39) probably benign Het
Corin T A 5: 72,611,816 (GRCm39) D148V possibly damaging Het
Cstdc1 T A 2: 148,627,745 (GRCm39) *131K probably null Het
Defb26 A C 2: 152,349,988 (GRCm39) D97E possibly damaging Het
Dgkb A G 12: 38,186,540 (GRCm39) N237D probably benign Het
Dsp A G 13: 38,379,993 (GRCm39) N1647S probably benign Het
Dtna G A 18: 23,754,499 (GRCm39) A438T probably damaging Het
Erbb3 G T 10: 128,419,310 (GRCm39) F219L probably damaging Het
EU599041 G A 7: 42,875,275 (GRCm39) noncoding transcript Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Fat4 T C 3: 38,943,080 (GRCm39) S658P probably benign Het
Fgfr2 C T 7: 129,802,805 (GRCm39) D168N possibly damaging Het
Fstl5 T A 3: 76,566,952 (GRCm39) probably benign Het
Glmn C T 5: 107,705,836 (GRCm39) V451I probably benign Het
Gm9938 T A 19: 23,701,988 (GRCm39) probably benign Het
Gpat2 T C 2: 127,270,169 (GRCm39) S61P probably damaging Het
Gpr22 T A 12: 31,761,640 (GRCm39) M6L probably benign Het
Grm5 T C 7: 87,724,185 (GRCm39) L825P probably damaging Het
Gstz1 A T 12: 87,206,477 (GRCm39) I66F probably benign Het
H2-T22 A G 17: 36,351,501 (GRCm39) V243A probably damaging Het
H2-T5 A T 17: 36,476,353 (GRCm39) S304T possibly damaging Het
Hivep1 C T 13: 42,309,517 (GRCm39) L586F probably damaging Het
Hmcn2 T G 2: 31,278,356 (GRCm39) L1686R probably damaging Het
Ice1 T C 13: 70,751,467 (GRCm39) R1540G probably damaging Het
Igha T A 12: 113,223,547 (GRCm39) probably benign Het
Kif3a C A 11: 53,469,812 (GRCm39) T141K probably benign Het
Knl1 G A 2: 118,900,373 (GRCm39) M691I probably benign Het
L3mbtl1 T C 2: 162,789,146 (GRCm39) V13A probably benign Het
Lamc1 T A 1: 153,104,936 (GRCm39) N1282I probably damaging Het
Lemd2 G T 17: 27,422,702 (GRCm39) L231I probably benign Het
Lrrk2 G A 15: 91,618,212 (GRCm39) V904M probably benign Het
Lyzl6 C T 11: 103,524,795 (GRCm39) S103N probably benign Het
Macf1 T A 4: 123,367,661 (GRCm39) R2367W probably damaging Het
Mapk3 T C 7: 126,358,977 (GRCm39) Y54H probably damaging Het
Mlh3 A T 12: 85,315,592 (GRCm39) V198D probably damaging Het
Myocd T C 11: 65,078,290 (GRCm39) S374G possibly damaging Het
Nhsl3 T C 4: 129,121,516 (GRCm39) probably null Het
Nr4a2 T C 2: 57,002,240 (GRCm39) Y8C probably damaging Het
Nynrin T A 14: 56,100,789 (GRCm39) V193D probably damaging Het
Or10ak9 T A 4: 118,726,424 (GRCm39) S148T probably benign Het
Or10w1 G T 19: 13,632,179 (GRCm39) V129F probably benign Het
Or1p1 A T 11: 74,180,092 (GRCm39) I207F probably damaging Het
Or4k36 A T 2: 111,146,249 (GRCm39) I142F probably benign Het
Or6d15 A G 6: 116,559,701 (GRCm39) S69P probably damaging Het
Pcdh18 T C 3: 49,710,793 (GRCm39) Y174C probably damaging Het
Pcf11 T C 7: 92,318,767 (GRCm39) D21G possibly damaging Het
Pdia4 A C 6: 47,775,344 (GRCm39) F489V possibly damaging Het
Pitrm1 C T 13: 6,625,068 (GRCm39) P849S probably damaging Het
Plcz1 T C 6: 139,935,510 (GRCm39) Y644C probably damaging Het
Ppp5c T C 7: 16,761,650 (GRCm39) E28G probably benign Het
Prkcb A G 7: 122,189,393 (GRCm39) Y507C probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Scarf1 A G 11: 75,405,988 (GRCm39) probably benign Het
Scoc T A 8: 84,184,887 (GRCm39) probably null Het
Sh2d4a A T 8: 68,734,973 (GRCm39) M31L probably damaging Het
Spta1 T A 1: 174,034,598 (GRCm39) probably benign Het
Stard7 A G 2: 127,134,127 (GRCm39) Y270C probably damaging Het
Svs3b T C 2: 164,097,881 (GRCm39) T147A probably benign Het
Tmtc3 A G 10: 100,284,823 (GRCm39) L604P probably damaging Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Trpm8 C A 1: 88,255,870 (GRCm39) probably benign Het
Tspan9 T C 6: 127,943,448 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,468,643 (GRCm39) R713C probably damaging Het
Tyro3 A T 2: 119,647,487 (GRCm39) Q872L probably damaging Het
Vmn1r204 G A 13: 22,740,379 (GRCm39) M3I probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdfy3 A G 5: 102,035,971 (GRCm39) I2149T possibly damaging Het
Zfp668 A T 7: 127,467,210 (GRCm39) M122K possibly damaging Het
Zkscan1 A T 5: 138,091,363 (GRCm39) D32V probably damaging Het
Other mutations in Ngef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:Ngef APN 1 87,468,418 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- TCTGAGAATTGCTTACACCCAAGCC -3'
(R):5'- GCAGTGACATCCCAGGTCATCAAATAC -3'

Sequencing Primer
(F):5'- CCAAGCCGATGCATGGATG -3'
(R):5'- CAGAACTGTCAGTCATAGATTTGCC -3'
Posted On 2014-03-11