Incidental Mutation 'IGL02976:9630041A04Rik'
ID406396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9630041A04Rik
Ensembl Gene ENSMUSG00000057710
Gene NameRIKEN cDNA 9630041A04 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL02976
Quality Score
Status
Chromosome9
Chromosomal Location101861841-101943228 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101939646 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 84 (T84A)
Ref Sequence ENSEMBL: ENSMUSP00000108460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035129] [ENSMUST00000085169] [ENSMUST00000112841]
Predicted Effect probably benign
Transcript: ENSMUST00000035129
SMART Domains Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
EPH_lbd 19 196 1.69e-129 SMART
FN3 323 416 2.44e-5 SMART
FN3 434 515 2.26e-9 SMART
Pfam:EphA2_TM 542 616 3e-24 PFAM
TyrKc 619 878 6.45e-141 SMART
SAM 908 975 1.22e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085169
SMART Domains Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
EPH_lbd 19 196 1.69e-129 SMART
FN3 323 416 2.44e-5 SMART
FN3 434 515 2.26e-9 SMART
transmembrane domain 541 563 N/A INTRINSIC
TyrKc 585 837 2.35e-134 SMART
SAM 867 934 1.22e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112841
AA Change: T84A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108460
Gene: ENSMUSG00000057710
AA Change: T84A

DomainStartEndE-ValueType
low complexity region 108 119 N/A INTRINSIC
low complexity region 124 134 N/A INTRINSIC
low complexity region 163 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217184
Coding Region Coverage
Validation Efficiency
MGI Phenotype NO_PHENOTYPE,Mice homozygous for disruptions of this gene display marked reductions of the ipsilateral optic tract.
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik A T 19: 58,789,120 V78E probably benign Het
Adgrd1 T A 5: 129,131,597 S288T probably benign Het
Ano7 T A 1: 93,402,673 D806E possibly damaging Het
Arl6 A G 16: 59,623,896 L79P probably damaging Het
Card6 A T 15: 5,099,828 C695* probably null Het
Carmil1 T C 13: 24,092,551 N610S possibly damaging Het
Cdc40 A G 10: 40,882,921 V52A probably benign Het
Chd4 G A 6: 125,121,368 R369H probably damaging Het
Clasp2 C T 9: 113,906,136 P1031L probably damaging Het
Cldn34d C T X: 76,583,084 A121T probably benign Het
Clmp A C 9: 40,781,224 Y263S possibly damaging Het
Cntn5 A G 9: 10,419,099 probably benign Het
Folh1 A T 7: 86,762,918 M215K probably benign Het
Fut1 C T 7: 45,619,320 R233C probably damaging Het
Gcdh A C 8: 84,888,578 Y398D probably damaging Het
Gm26741 T G 10: 52,358,814 S16R possibly damaging Het
Jph3 T A 8: 121,753,084 L167Q probably damaging Het
Jup A G 11: 100,378,366 V407A probably benign Het
Kif17 C T 4: 138,269,063 A117V probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Magi2 C T 5: 20,534,475 P349S probably damaging Het
Mlycd T C 8: 119,401,485 M177T possibly damaging Het
Mocos A G 18: 24,666,569 K287E possibly damaging Het
Morc2b T A 17: 33,137,523 H425L possibly damaging Het
Mrpl9 T A 3: 94,447,777 probably benign Het
Myo3a G A 2: 22,542,452 W825* probably null Het
Npas2 T C 1: 39,287,484 S17P probably damaging Het
Nrk A G X: 138,992,068 I1174V probably benign Het
Olfr1423 A T 19: 12,035,973 Y256* probably null Het
Olfr392 A G 11: 73,814,317 I255T probably damaging Het
Olfr730 G A 14: 50,186,432 Q262* probably null Het
Parpbp A G 10: 88,111,594 probably null Het
Pcdh10 T C 3: 45,380,013 V254A possibly damaging Het
Plod1 C T 4: 147,913,321 V644I probably damaging Het
Ptpn1 T C 2: 167,971,784 V149A probably benign Het
Rassf4 T C 6: 116,638,248 E320G probably damaging Het
Rgl2 T A 17: 33,933,962 D448E possibly damaging Het
Rnf32 C T 5: 29,206,712 probably null Het
Rpa1 T A 11: 75,312,802 D358V probably damaging Het
Sdk2 T C 11: 113,851,842 N747S probably damaging Het
Slc17a4 A C 13: 23,905,424 M170R probably damaging Het
Slc5a4a G A 10: 76,170,693 V310M possibly damaging Het
Spag9 G A 11: 94,083,953 R463H probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt10 A G 15: 89,814,479 S221P probably benign Het
Tlk1 T A 2: 70,721,591 K579* probably null Het
Tubgcp3 T C 8: 12,632,300 Y673C probably damaging Het
Vmn1r223 T C 13: 23,249,995 F253S probably damaging Het
Vmn2r83 T C 10: 79,468,998 M14T probably benign Het
Zfp59 A G 7: 27,853,396 D91G probably benign Het
Other mutations in 9630041A04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0395:9630041A04Rik UTSW 9 101942735 missense probably damaging 0.97
R3833:9630041A04Rik UTSW 9 101942863 missense probably damaging 0.99
R4761:9630041A04Rik UTSW 9 101942966 missense possibly damaging 0.90
R5236:9630041A04Rik UTSW 9 101942921 missense possibly damaging 0.83
R6596:9630041A04Rik UTSW 9 101942785 missense possibly damaging 0.66
Posted On2016-08-02