Incidental Mutation 'IGL02858:Exoc3l2'
ID362031
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc3l2
Ensembl Gene ENSMUSG00000011263
Gene Nameexocyst complex component 3-like 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.641) question?
Stock #IGL02858
Quality Score
Status
Chromosome7
Chromosomal Location19463331-19496762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 19495184 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 176 (I176V)
Ref Sequence ENSEMBL: ENSMUSP00000011407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011407] [ENSMUST00000137613]
Predicted Effect probably benign
Transcript: ENSMUST00000011407
AA Change: I176V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000011407
Gene: ENSMUSG00000011263
AA Change: I176V

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000137613
AA Change: N769S
SMART Domains Protein: ENSMUSP00000123025
Gene: ENSMUSG00000011263
AA Change: N769S

DomainStartEndE-ValueType
Pfam:Sec6 1 177 7.7e-29 PFAM
low complexity region 186 222 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,769,034 V126A probably damaging Het
Akap9 T C 5: 4,069,130 Y3546H possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap45 C A 10: 80,017,934 T94N probably benign Het
Arid1b T C 17: 5,341,891 S1899P possibly damaging Het
Atad5 T A 11: 80,089,775 V2E probably damaging Het
Calr A T 8: 84,844,899 V155E probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cetn1 T C 18: 9,619,422 probably benign Het
Chl1 A T 6: 103,641,988 L6F probably damaging Het
Chrnb1 C T 11: 69,785,109 V436I possibly damaging Het
Col4a4 T C 1: 82,528,483 E292G unknown Het
Ddx56 A G 11: 6,267,667 L18P probably damaging Het
Dhx36 A C 3: 62,477,376 probably benign Het
Dnah5 A T 15: 28,453,212 R4376S possibly damaging Het
Dnah6 T A 6: 73,208,599 D113V probably benign Het
Dnah7a A G 1: 53,472,959 probably benign Het
Dock7 T A 4: 98,945,205 K1920* probably null Het
Dysf A G 6: 84,099,489 D628G probably benign Het
Fcrl1 A G 3: 87,384,705 Y57C probably damaging Het
Fzd4 C T 7: 89,407,954 T403M probably damaging Het
Gpr171 A T 3: 59,097,867 N162K probably benign Het
Impdh1 T A 6: 29,206,925 K132* probably null Het
Itgb2l A T 16: 96,422,650 W730R possibly damaging Het
Jmjd8 T C 17: 25,830,160 F230S probably damaging Het
Krt72 G A 15: 101,782,121 T232M probably damaging Het
Lpin3 T C 2: 160,898,620 probably benign Het
Nup214 A C 2: 32,010,372 probably benign Het
Olfr740 A T 14: 50,453,050 probably benign Het
Olfr77 A G 9: 19,920,451 M81V probably damaging Het
Olfr898 A G 9: 38,349,173 Q24R probably benign Het
Olfr943 A G 9: 39,184,526 Y113C probably damaging Het
Pdgfra T A 5: 75,194,974 S1048R probably damaging Het
Sall3 G T 18: 80,969,513 A1236E probably damaging Het
Sipa1 T C 19: 5,655,708 T411A probably damaging Het
Thsd7a T G 6: 12,500,995 D471A probably benign Het
Tm2d1 T A 4: 98,374,955 E100D probably damaging Het
Tmcc1 A G 6: 116,133,888 V148A probably damaging Het
Tubgcp6 A T 15: 89,102,315 Y19* probably null Het
Ubr3 A G 2: 69,952,859 Y713C probably damaging Het
Uevld A G 7: 46,955,629 V39A probably benign Het
Vmn2r28 A T 7: 5,481,004 H732Q probably damaging Het
Zfp629 A T 7: 127,610,312 F775Y probably damaging Het
Other mutations in Exoc3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Thumbelina UTSW 7 19480032 missense unknown
R1220:Exoc3l2 UTSW 7 19491784 splice site probably benign
R1482:Exoc3l2 UTSW 7 19495359 missense probably damaging 0.99
R2109:Exoc3l2 UTSW 7 19489134 start gained probably benign
R2117:Exoc3l2 UTSW 7 19494982 missense possibly damaging 0.92
R3963:Exoc3l2 UTSW 7 19495256 missense probably benign
R4870:Exoc3l2 UTSW 7 19495192 missense unknown
R5982:Exoc3l2 UTSW 7 19480032 missense unknown
R6151:Exoc3l2 UTSW 7 19491745 nonsense probably null
R6351:Exoc3l2 UTSW 7 19469708 missense possibly damaging 0.66
R6376:Exoc3l2 UTSW 7 19469710 missense possibly damaging 0.90
R7087:Exoc3l2 UTSW 7 19469657 missense
R7256:Exoc3l2 UTSW 7 19484703 missense unknown
R7493:Exoc3l2 UTSW 7 19469888 missense
R8472:Exoc3l2 UTSW 7 19481265 nonsense probably null
R8745:Exoc3l2 UTSW 7 19481287 missense unknown
X0064:Exoc3l2 UTSW 7 19494972 missense probably benign 0.27
Z1176:Exoc3l2 UTSW 7 19480061 missense probably null
Z1177:Exoc3l2 UTSW 7 19480028 missense unknown
Posted On2015-12-18