Incidental Mutation 'IGL02609:2210407C18Rik'
ID300397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2210407C18Rik
Ensembl Gene ENSMUSG00000037145
Gene NameRIKEN cDNA 2210407C18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL02609
Quality Score
Status
Chromosome11
Chromosomal Location58608204-58616075 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58612616 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 29 (C29S)
Ref Sequence ENSEMBL: ENSMUSP00000104449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048801] [ENSMUST00000108821]
Predicted Effect probably damaging
Transcript: ENSMUST00000048801
AA Change: C29S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039283
Gene: ENSMUSG00000037145
AA Change: C29S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 209 220 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108821
AA Change: C29S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104449
Gene: ENSMUSG00000037145
AA Change: C29S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 209 220 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126695
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in 2210407C18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:2210407C18Rik APN 11 58612881 utr 5 prime probably benign
IGL02341:2210407C18Rik APN 11 58612830 missense possibly damaging 0.70
R0466:2210407C18Rik UTSW 11 58612505 splice site probably benign
R0598:2210407C18Rik UTSW 11 58608404 missense probably benign 0.27
R0612:2210407C18Rik UTSW 11 58611973 splice site probably null
R2352:2210407C18Rik UTSW 11 58612108 nonsense probably null
R2352:2210407C18Rik UTSW 11 58612850 missense probably damaging 1.00
R2439:2210407C18Rik UTSW 11 58610777 missense probably damaging 1.00
R2910:2210407C18Rik UTSW 11 58608426 nonsense probably null
R2911:2210407C18Rik UTSW 11 58608426 nonsense probably null
R2991:2210407C18Rik UTSW 11 58610690 missense possibly damaging 0.81
R3609:2210407C18Rik UTSW 11 58612558 missense possibly damaging 0.95
R4863:2210407C18Rik UTSW 11 58612512 critical splice donor site probably null
R4925:2210407C18Rik UTSW 11 58610687 missense probably damaging 0.96
R6954:2210407C18Rik UTSW 11 58608488 missense probably benign 0.01
R7725:2210407C18Rik UTSW 11 58608499 missense probably benign 0.21
Posted On2015-04-16