Incidental Mutation 'R7760:Ngef'
ID 597776
Institutional Source Beutler Lab
Gene Symbol Ngef
Ensembl Gene ENSMUSG00000026259
Gene Name neuronal guanine nucleotide exchange factor
Synonyms ephexin, Tims2
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87404556-87501592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87468495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 88 (D88G)
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: D88G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: D88G

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
Meta Mutation Damage Score 0.0578 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R 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
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
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'- ACAAGTGACATCCTGTATCTCTGAG -3'
(R):5'- GGTATCATAGTTATCAGCTCCATTGC -3'

Sequencing Primer
(F):5'- CATCCTGTATCTCTGAGAAGATTTGG -3'
(R):5'- ATTGCAGTGACATCCCAGGTC -3'
Posted On 2019-11-26