Incidental Mutation 'IGL03378:9430069I07Rik'
ID 420578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9430069I07Rik
Ensembl Gene ENSMUSG00000094447
Gene Name RIKEN cDNA 9430069I07 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03378
Quality Score
Status
Chromosome 15
Chromosomal Location 34349197-34358018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34355778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 261 (I261N)
Ref Sequence ENSEMBL: ENSMUSP00000154572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022947] [ENSMUST00000163455] [ENSMUST00000179647] [ENSMUST00000227759] [ENSMUST00000227772] [ENSMUST00000228570]
AlphaFold Q9CX21
Predicted Effect probably benign
Transcript: ENSMUST00000022947
AA Change: I261N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: I261N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWA 55 237 1.99e-49 SMART
EGF 241 278 6.86e-4 SMART
EGF 282 319 5.49e-3 SMART
EGF 323 360 7.88e-4 SMART
EGF 364 401 6.76e-3 SMART
EGF 405 442 4.39e-2 SMART
EGF 446 483 9.41e-2 SMART
EGF 487 524 1.24e-1 SMART
EGF 528 565 2.23e-3 SMART
EGF 569 606 8.44e-4 SMART
EGF 610 647 9.55e-3 SMART
VWA 653 831 1.14e-49 SMART
Matrilin_ccoil 889 935 4.78e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163455
AA Change: I261N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: I261N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWA 55 237 1.99e-49 SMART
EGF 241 278 6.86e-4 SMART
EGF 282 319 5.49e-3 SMART
EGF 323 360 7.88e-4 SMART
EGF 364 401 6.76e-3 SMART
EGF 405 442 4.39e-2 SMART
EGF 446 483 9.41e-2 SMART
EGF 487 524 1.24e-1 SMART
EGF 528 565 2.23e-3 SMART
EGF 569 606 8.44e-4 SMART
EGF 610 647 9.55e-3 SMART
VWA 653 831 1.14e-49 SMART
Matrilin_ccoil 908 955 7.77e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179647
AA Change: M25L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227759
AA Change: I261N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000227772
AA Change: M25L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228570
AA Change: I261N

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bace1 T A 9: 45,770,199 (GRCm39) probably null Het
Caprin2 G T 6: 148,779,352 (GRCm39) Q152K probably benign Het
Cdh16 C T 8: 105,345,917 (GRCm39) D285N probably benign Het
Cnnm2 G A 19: 46,866,473 (GRCm39) A874T possibly damaging Het
Dhx38 A T 8: 110,285,722 (GRCm39) probably null Het
Dnhd1 A C 7: 105,362,940 (GRCm39) E3834A possibly damaging Het
Erc2 A C 14: 27,733,680 (GRCm39) S585R probably damaging Het
Gli3 A G 13: 15,819,005 (GRCm39) E269G probably damaging Het
Gpr161 T C 1: 165,138,077 (GRCm39) L204P probably damaging Het
Hp A G 8: 110,302,339 (GRCm39) V203A probably damaging Het
Krtap6-5 A T 16: 88,844,677 (GRCm39) C19S unknown Het
Lce1i A T 3: 92,685,033 (GRCm39) S48T unknown Het
Lrp2 A T 2: 69,261,496 (GRCm39) S4482T probably damaging Het
Mpdz A T 4: 81,337,285 (GRCm39) probably benign Het
Or1q1 T C 2: 36,886,915 (GRCm39) F31S probably damaging Het
Or4c100 T A 2: 88,356,498 (GRCm39) Y190* probably null Het
Or8k18 T A 2: 86,085,363 (GRCm39) I225L possibly damaging Het
Papola G T 12: 105,775,692 (GRCm39) probably null Het
Prss23 T C 7: 89,159,352 (GRCm39) D239G probably damaging Het
Setd2 A G 9: 110,382,220 (GRCm39) T83A unknown Het
Sh3pxd2b T G 11: 32,331,443 (GRCm39) L56V probably damaging Het
Ski A G 4: 155,245,329 (GRCm39) S300P probably benign Het
Srebf2 T C 15: 82,053,989 (GRCm39) S17P probably damaging Het
Svs5 C A 2: 164,175,260 (GRCm39) H37Q probably benign Het
Tbx21 A G 11: 97,005,567 (GRCm39) S133P probably benign Het
Tgfbr3 G T 5: 107,257,568 (GRCm39) S830R probably damaging Het
Thsd1 A T 8: 22,733,794 (GRCm39) K280N probably benign Het
Tnfrsf13c T A 15: 82,108,513 (GRCm39) M1L probably benign Het
Ttll7 T C 3: 146,615,408 (GRCm39) F291L probably benign Het
Ttn A G 2: 76,599,907 (GRCm39) V10762A probably damaging Het
Other mutations in 9430069I07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7291:9430069I07Rik UTSW 15 34,355,699 (GRCm39) missense possibly damaging 0.82
Posted On 2016-08-02