Incidental Mutation 'IGL01583:Cnksr3'
ID91442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnksr3
Ensembl Gene ENSMUSG00000015202
Gene NameCnksr family member 3
SynonymsMagi1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL01583
Quality Score
Status
Chromosome10
Chromosomal Location7119063-7212237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7120512 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 241 (Y241H)
Ref Sequence ENSEMBL: ENSMUSP00000115863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015346] [ENSMUST00000150282]
Predicted Effect probably benign
Transcript: ENSMUST00000015346
AA Change: Y482H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015346
Gene: ENSMUSG00000015202
AA Change: Y482H

DomainStartEndE-ValueType
SAM 4 72 7.25e-15 SMART
Pfam:CRIC_ras_sig 80 172 3.3e-39 PFAM
PDZ 221 293 4.65e-10 SMART
low complexity region 311 329 N/A INTRINSIC
Pfam:DUF1170 332 545 3.6e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150282
AA Change: Y241H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115863
Gene: ENSMUSG00000015202
AA Change: Y241H

DomainStartEndE-ValueType
Pfam:PDZ 1 49 6e-8 PFAM
low complexity region 70 88 N/A INTRINSIC
Pfam:DUF1170 89 305 4.4e-90 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,296,409 M329K possibly damaging Het
Abce1 G A 8: 79,693,447 T300M probably damaging Het
Acap1 G A 11: 69,881,677 S536L probably damaging Het
Adcy5 C A 16: 35,283,513 probably benign Het
Ap2b1 G T 11: 83,324,611 R127L possibly damaging Het
Asxl3 T G 18: 22,516,597 S548A probably benign Het
Atm G A 9: 53,484,247 probably benign Het
Cep250 T C 2: 155,976,149 V807A probably damaging Het
Ces1g T A 8: 93,306,959 Y445F probably damaging Het
Col9a1 T C 1: 24,185,144 S136P unknown Het
Cux2 C A 5: 121,874,107 G422W probably damaging Het
Cyp1a2 A T 9: 57,682,372 M53K probably benign Het
Ddx20 T C 3: 105,686,670 D123G probably damaging Het
Dock4 T A 12: 40,810,467 L1284* probably null Het
Dpp9 A C 17: 56,211,666 L46R probably benign Het
Elavl1 A T 8: 4,301,699 V139E probably damaging Het
Fndc3b T C 3: 27,428,995 Y1018C probably damaging Het
Fubp1 A G 3: 152,215,624 N78D possibly damaging Het
Fubp3 C T 2: 31,611,743 probably benign Het
Gbx2 C A 1: 89,928,837 R277L probably damaging Het
Gm128 T C 3: 95,240,783 R67G possibly damaging Het
Gpc2 T A 5: 138,275,530 R469W probably damaging Het
Ifi30 G A 8: 70,764,762 probably benign Het
Kbtbd4 T C 2: 90,905,908 S88P probably damaging Het
Kif23 A T 9: 61,935,468 Y216N probably damaging Het
Lgals4 A G 7: 28,841,548 D299G probably damaging Het
Lmx1b A G 2: 33,569,059 S161P probably benign Het
Lrcol1 T A 5: 110,354,578 S107T probably benign Het
Lrrc28 A T 7: 67,545,475 probably null Het
Ncoa4 T C 14: 32,172,927 V42A probably benign Het
Nkd2 C T 13: 73,821,480 S277N probably benign Het
Nlrp2 A T 7: 5,337,770 L15Q probably damaging Het
Nynrin T G 14: 55,870,511 L1025R probably damaging Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1134 G T 2: 87,656,413 C169* probably null Het
Piwil4 A T 9: 14,734,487 F152I probably damaging Het
Plod3 T C 5: 136,996,148 S705P probably benign Het
Ppp2r2c T A 5: 36,868,822 M1K probably null Het
Rgs19 T C 2: 181,689,453 E129G probably damaging Het
Rpap2 T A 5: 107,620,195 S223T probably damaging Het
Shox2 T C 3: 66,973,771 probably benign Het
Slc30a4 T C 2: 122,685,217 I370V probably benign Het
Slco1b2 A G 6: 141,663,672 I269M possibly damaging Het
Slco1c1 A G 6: 141,540,067 Y142C probably damaging Het
Slco3a1 T C 7: 74,284,450 N658S probably benign Het
Sos1 A T 17: 80,433,900 S485R probably benign Het
Srpk1 A G 17: 28,606,317 L127P probably damaging Het
St3gal6 T A 16: 58,493,670 probably benign Het
Stk4 T A 2: 164,074,214 M1K probably null Het
Tbc1d12 A G 19: 38,882,732 E313G probably benign Het
Tbk1 A G 10: 121,557,229 I472T probably benign Het
Tiam1 G A 16: 89,789,280 R849W probably damaging Het
Tle3 A G 9: 61,410,025 T381A probably benign Het
Tmem82 T G 4: 141,614,643 T337P probably benign Het
Tmprss15 T C 16: 79,071,261 T220A probably benign Het
Ung A G 5: 114,137,308 K242E possibly damaging Het
Vmn1r211 A T 13: 22,852,401 M32K probably benign Het
Vps13d T G 4: 145,045,088 D956A probably damaging Het
Wdr64 T A 1: 175,767,156 probably null Het
Other mutations in Cnksr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Cnksr3 APN 10 7154281 critical splice donor site probably null
IGL02374:Cnksr3 APN 10 7120335 missense probably damaging 1.00
IGL02541:Cnksr3 APN 10 7135073 missense probably damaging 1.00
IGL02551:Cnksr3 APN 10 7152912 missense probably damaging 1.00
IGL02975:Cnksr3 APN 10 7138354 critical splice donor site probably null
R0652:Cnksr3 UTSW 10 7120463 missense probably damaging 1.00
R1451:Cnksr3 UTSW 10 7126830 missense probably null 0.93
R1453:Cnksr3 UTSW 10 7129132 missense probably benign 0.00
R1847:Cnksr3 UTSW 10 7154324 missense probably benign 0.01
R1852:Cnksr3 UTSW 10 7120539 missense probably benign 0.06
R3002:Cnksr3 UTSW 10 7152856 splice site probably benign
R4621:Cnksr3 UTSW 10 7126182 missense possibly damaging 0.85
R4835:Cnksr3 UTSW 10 7160757 missense possibly damaging 0.76
R4941:Cnksr3 UTSW 10 7152925 missense probably benign 0.07
R4981:Cnksr3 UTSW 10 7160777 missense probably benign 0.00
R5000:Cnksr3 UTSW 10 7126746 nonsense probably null
R5001:Cnksr3 UTSW 10 7126746 nonsense probably null
R5267:Cnksr3 UTSW 10 7126633 critical splice donor site probably null
R5322:Cnksr3 UTSW 10 7135078 missense probably damaging 1.00
R5623:Cnksr3 UTSW 10 7120548 missense probably damaging 1.00
R5853:Cnksr3 UTSW 10 7142977 missense probably benign 0.09
R5930:Cnksr3 UTSW 10 7142993 missense probably benign
R6459:Cnksr3 UTSW 10 7126820 missense probably benign 0.00
R6893:Cnksr3 UTSW 10 7135129 splice site probably null
R6941:Cnksr3 UTSW 10 7126758 missense probably damaging 1.00
R6949:Cnksr3 UTSW 10 7160757 missense probably benign 0.02
R7075:Cnksr3 UTSW 10 7152931 missense probably benign 0.33
R7487:Cnksr3 UTSW 10 7135097 missense probably benign 0.01
R8165:Cnksr3 UTSW 10 7154467 missense probably damaging 0.99
R8181:Cnksr3 UTSW 10 7120475 missense possibly damaging 0.94
Z1176:Cnksr3 UTSW 10 7134544 missense probably damaging 1.00
Posted On2013-12-09