Incidental Mutation 'IGL01805:1700019D03Rik'
ID155648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700019D03Rik
Ensembl Gene ENSMUSG00000043629
Gene NameRIKEN cDNA 1700019D03 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.047) question?
Stock #IGL01805
Quality Score
Status
Chromosome1
Chromosomal Location52922324-53020179 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52925518 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 17 (D17G)
Ref Sequence ENSEMBL: ENSMUSP00000139750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044478] [ENSMUST00000050567] [ENSMUST00000114492] [ENSMUST00000114493] [ENSMUST00000159352] [ENSMUST00000186266] [ENSMUST00000190726] [ENSMUST00000190831] [ENSMUST00000191441]
Predicted Effect probably benign
Transcript: ENSMUST00000044478
SMART Domains Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426

DomainStartEndE-ValueType
Pfam:ECH_1 43 282 6.6e-34 PFAM
Pfam:ECH_2 45 375 3.9e-141 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000050567
AA Change: D17G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055413
Gene: ENSMUSG00000043629
AA Change: D17G

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114492
AA Change: D17G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110136
Gene: ENSMUSG00000043629
AA Change: D17G

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114493
AA Change: D17G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110137
Gene: ENSMUSG00000043629
AA Change: D17G

DomainStartEndE-ValueType
Pfam:SmAKAP 1 100 2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159352
SMART Domains Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426

DomainStartEndE-ValueType
Pfam:ECH 44 299 1.3e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186266
AA Change: D17G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140273
Gene: ENSMUSG00000043629
AA Change: D17G

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190726
AA Change: D17G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140530
Gene: ENSMUSG00000043629
AA Change: D17G

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190831
AA Change: D17G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140160
Gene: ENSMUSG00000043629
AA Change: D17G

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000191441
AA Change: D17G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139750
Gene: ENSMUSG00000043629
AA Change: D17G

DomainStartEndE-ValueType
Pfam:DUF4565 1 101 1.1e-40 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 G T 14: 68,642,091 S169R probably benign Het
Aox1 T C 1: 58,081,513 M855T possibly damaging Het
Apc C A 18: 34,318,218 N2688K probably benign Het
Arhgap23 T A 11: 97,492,602 probably benign Het
Bpifa6 A G 2: 153,984,912 T66A probably benign Het
C1qtnf1 T A 11: 118,448,167 L221Q probably damaging Het
Ccdc175 T A 12: 72,129,229 probably benign Het
Ccl1 C A 11: 82,178,132 M26I possibly damaging Het
D17Wsu92e C T 17: 27,767,906 probably benign Het
Dnah10 T A 5: 124,783,921 F2123I probably damaging Het
Dpcr1 T A 17: 35,637,643 T355S possibly damaging Het
Fancm T C 12: 65,113,861 probably null Het
Fstl4 C A 11: 53,186,357 A647E probably damaging Het
Hmgb4 G T 4: 128,260,222 probably benign Het
Hr A T 14: 70,565,297 probably benign Het
Kcna4 G T 2: 107,296,498 V526L probably damaging Het
Mas1 T C 17: 12,842,230 Y102C probably damaging Het
Mul1 C T 4: 138,439,663 P343S possibly damaging Het
Obscn T C 11: 59,132,596 S652G probably damaging Het
Olfr972 T C 9: 39,873,779 F168S probably damaging Het
Pjvk A T 2: 76,657,514 N250I probably benign Het
Pkd2 T C 5: 104,483,093 I461T probably benign Het
Psen2 T C 1: 180,229,838 probably null Het
Ralb T C 1: 119,475,995 E81G probably benign Het
Slc15a4 T C 5: 127,608,836 T261A possibly damaging Het
Vmn2r77 G A 7: 86,811,187 V574M probably benign Het
Xrn2 A G 2: 147,028,143 I251V probably damaging Het
Zfp974 G A 7: 27,912,264 probably benign Het
Other mutations in 1700019D03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1271:1700019D03Rik UTSW 1 52925334 missense possibly damaging 0.63
R4612:1700019D03Rik UTSW 1 52925476 missense probably benign
R5433:1700019D03Rik UTSW 1 52925498 missense probably damaging 0.96
Posted On2014-02-04