Incidental Mutation 'IGL02661:1700034E13Rik'
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ID302565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700034E13Rik
Ensembl Gene ENSMUSG00000024532
Gene NameRIKEN cDNA 1700034E13 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02661
Quality Score
Status
Chromosome18
Chromosomal Location52646209-52663733 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 52660494 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Leucine at position 33 (W33L)
Ref Sequence ENSEMBL: ENSMUSP00000112845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091904] [ENSMUST00000118724]
Predicted Effect probably damaging
Transcript: ENSMUST00000091904
AA Change: W33L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089518
Gene: ENSMUSG00000024532
AA Change: W33L

DomainStartEndE-ValueType
Pfam:zf-C2HC_2 6 30 1.7e-10 PFAM
low complexity region 39 55 N/A INTRINSIC
Pfam:zf-C2HC_2 79 103 1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118724
AA Change: W33L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112845
Gene: ENSMUSG00000024532
AA Change: W33L

DomainStartEndE-ValueType
Pfam:zf-C2HC_2 6 30 2e-10 PFAM
low complexity region 39 55 N/A INTRINSIC
Pfam:zf-C2HC_2 79 103 1.1e-13 PFAM
Pfam:zf-C2H2 82 102 3.2e-3 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 43,651,535 C358S probably damaging Het
Ak5 C A 3: 152,463,956 V561F probably benign Het
Ap1s1 T C 5: 137,037,473 D158G probably benign Het
Bard1 A G 1: 71,075,310 S171P probably damaging Het
Bsn A C 9: 108,106,936 Y534* probably null Het
Clcn4 A T 7: 7,291,731 probably null Het
Cyp2j7 T C 4: 96,236,650 T4A probably benign Het
Dnajc10 T A 2: 80,326,740 probably benign Het
Dtl G T 1: 191,541,371 T475N probably benign Het
Eif3m T C 2: 105,004,969 Y120C probably damaging Het
Gab1 A G 8: 80,788,937 S251P probably damaging Het
Gba T A 3: 89,203,527 V14E probably benign Het
Ggcx C T 6: 72,418,360 P145S possibly damaging Het
Gm13889 G A 2: 93,956,679 T150I probably benign Het
Gm4978 C A 9: 69,450,898 probably benign Het
Herc2 A G 7: 56,113,073 D850G probably damaging Het
Hspa1l A G 17: 34,977,275 I97V probably benign Het
Ighv1-4 T G 12: 114,487,230 K86T probably damaging Het
Ints4 C A 7: 97,495,705 L175I probably benign Het
Kif13b T G 14: 64,767,691 V1144G probably benign Het
Kpna3 T A 14: 61,372,949 probably benign Het
Man2c1 A G 9: 57,137,482 D371G probably damaging Het
Mtf1 T C 4: 124,825,109 L305P probably damaging Het
Myo15b T G 11: 115,884,069 V2139G probably benign Het
Nalcn T C 14: 123,592,909 probably benign Het
Neurod2 T C 11: 98,327,579 Q253R possibly damaging Het
Nfkbil1 C A 17: 35,220,671 A289S probably benign Het
Olfr1277 T A 2: 111,269,466 R300S possibly damaging Het
Paxbp1 A T 16: 91,030,525 I474K probably benign Het
Pde6c A T 19: 38,180,800 I798F probably damaging Het
Pon3 T A 6: 5,256,205 T8S probably benign Het
Prkdc A G 16: 15,769,825 T2525A possibly damaging Het
Rnase10 T G 14: 51,009,816 V180G probably damaging Het
Rreb1 T A 13: 37,930,802 C712* probably null Het
Scamp2 T C 9: 57,587,414 probably benign Het
Serpina3i A T 12: 104,265,256 K51* probably null Het
Smyd4 C A 11: 75,390,941 C413* probably null Het
Spata2 C T 2: 167,483,361 V513M probably damaging Het
Sri T A 5: 8,063,252 Het
Urah A T 7: 140,837,705 K119M probably damaging Het
Wdr19 C T 5: 65,245,808 T1005I probably benign Het
Other mutations in 1700034E13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1741:1700034E13Rik UTSW 18 52660506 missense probably damaging 1.00
R5876:1700034E13Rik UTSW 18 52663582 missense possibly damaging 0.87
R6852:1700034E13Rik UTSW 18 52663633 missense probably damaging 0.97
Posted On2015-04-16