Incidental Mutation 'IGL02972:2410137M14Rik'
ID365852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2410137M14Rik
Ensembl Gene ENSMUSG00000064308
Gene NameRIKEN cDNA 2410137M14 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02972
Quality Score
Status
Chromosome17
Chromosomal Location36977701-36981237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36978520 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 105 (I105F)
Ref Sequence ENSEMBL: ENSMUSP00000133725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039846] [ENSMUST00000173707]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039846
AA Change: I105F

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044846
Gene: ENSMUSG00000064308
AA Change: I105F

DomainStartEndE-ValueType
IGc1 17 88 1.87e-12 SMART
transmembrane domain 105 127 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173707
AA Change: I105F

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133725
Gene: ENSMUSG00000064308
AA Change: I105F

DomainStartEndE-ValueType
IGc1 17 88 1.87e-12 SMART
low complexity region 109 125 N/A INTRINSIC
Meta Mutation Damage Score 0.3213 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmpr1b C T 3: 141,870,758 D105N probably benign Het
Ces2e A T 8: 104,927,061 S44C probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chst15 T C 7: 132,269,173 D211G probably damaging Het
Dpp4 T C 2: 62,352,225 S571G probably damaging Het
Gna11 T C 10: 81,533,391 I113V probably benign Het
Grm3 T C 5: 9,512,410 Y480C probably damaging Het
Mccc1 C T 3: 35,985,089 V252I possibly damaging Het
Nol12 A G 15: 78,940,599 T209A probably damaging Het
Olfr1384 G A 11: 49,514,091 G151D probably damaging Het
Olfr622 A G 7: 103,639,894 M82T probably damaging Het
Olfr859 T C 9: 19,808,942 F208S probably damaging Het
P3h1 C A 4: 119,247,960 Q712K possibly damaging Het
Per2 T A 1: 91,423,981 E934D possibly damaging Het
Pfkl T C 10: 77,988,274 D760G probably benign Het
Piezo2 C A 18: 63,064,785 probably benign Het
Pkd1l1 C T 11: 8,863,908 R1481Q probably damaging Het
Plpp3 T C 4: 105,208,792 V189A possibly damaging Het
Pnpla1 A G 17: 28,886,947 E592G probably null Het
Prdm2 A T 4: 143,132,166 M1518K probably benign Het
Rhbdl3 G A 11: 80,331,916 probably benign Het
Rnf145 C T 11: 44,564,038 S582F probably benign Het
Rsf1 A G 7: 97,661,326 D421G probably benign Het
Serac1 A C 17: 6,070,764 L85* probably null Het
Slc43a1 T G 2: 84,860,118 V460G probably damaging Het
Slc7a6 G A 8: 106,179,427 C97Y probably damaging Het
Slco5a1 A T 1: 12,990,155 L114* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taok1 A G 11: 77,559,758 V396A probably benign Het
Tmem232 T A 17: 65,476,673 H233L probably benign Het
Tmprss11c C T 5: 86,237,833 S247N possibly damaging Het
Tnc C T 4: 63,976,478 S1557N probably benign Het
Txlng A G X: 162,807,555 M94T probably damaging Het
Ube2b A T 11: 51,988,682 I87K probably damaging Het
Ubr5 A T 15: 38,041,952 S133R probably damaging Het
Ugt1a5 C T 1: 88,166,422 T124I probably benign Het
Vamp1 G T 6: 125,219,647 R117L probably benign Het
Vmn1r87 G T 7: 13,132,329 Y10* probably null Het
Zan G A 5: 137,463,686 T1077I unknown Het
Zc2hc1b C A 10: 13,171,281 V29F probably damaging Het
Zfp597 T C 16: 3,866,523 D123G probably benign Het
Other mutations in 2410137M14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:2410137M14Rik APN 17 36978807 missense probably damaging 0.98
BB006:2410137M14Rik UTSW 17 36978520 missense possibly damaging 0.85
BB016:2410137M14Rik UTSW 17 36978520 missense possibly damaging 0.85
R0517:2410137M14Rik UTSW 17 36981132 splice site probably benign
R2044:2410137M14Rik UTSW 17 36978094 utr 3 prime probably benign
R2206:2410137M14Rik UTSW 17 36978073 utr 3 prime probably benign
R2207:2410137M14Rik UTSW 17 36978073 utr 3 prime probably benign
R4666:2410137M14Rik UTSW 17 36978902 missense probably benign 0.03
R4806:2410137M14Rik UTSW 17 36978854 missense probably benign 0.00
R7017:2410137M14Rik UTSW 17 36978034 utr 3 prime probably benign
R7870:2410137M14Rik UTSW 17 36978017 missense unknown
R7929:2410137M14Rik UTSW 17 36978520 missense possibly damaging 0.85
X0021:2410137M14Rik UTSW 17 36978034 utr 3 prime probably benign
Posted On2015-12-18