Incidental Mutation 'IGL01433:1700011H14Rik'
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ID84232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700011H14Rik
Ensembl Gene ENSMUSG00000021850
Gene NameRIKEN cDNA 1700011H14 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL01433
Quality Score
Status
Chromosome14
Chromosomal Location49219588-49245474 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 49235884 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 128 (T128K)
Ref Sequence ENSEMBL: ENSMUSP00000153946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022398] [ENSMUST00000130853] [ENSMUST00000148109] [ENSMUST00000227113] [ENSMUST00000228936]
Predicted Effect probably benign
Transcript: ENSMUST00000022398
AA Change: T138K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: T138K

DomainStartEndE-ValueType
Pfam:DUF4619 1 294 1e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130853
AA Change: T128K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850
AA Change: T128K

DomainStartEndE-ValueType
Pfam:DUF4619 1 217 4.8e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148109
SMART Domains Protein: ENSMUSP00000114834
Gene: ENSMUSG00000021850

DomainStartEndE-ValueType
Pfam:DUF4619 1 65 3.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227113
AA Change: T128K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000228936
AA Change: T128K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T G 3: 36,887,770 S241R probably damaging Het
9030624J02Rik A G 7: 118,774,051 probably null Het
Actrt3 C T 3: 30,598,039 G302D probably damaging Het
Adam19 T C 11: 46,112,783 L146P probably damaging Het
Adcy8 T A 15: 64,737,414 Y852F possibly damaging Het
Arfgef1 T C 1: 10,153,432 T1520A probably damaging Het
Atp8b1 C T 18: 64,573,519 V199I probably benign Het
Avl9 A G 6: 56,753,397 D575G probably damaging Het
Bcam C A 7: 19,760,182 V395L possibly damaging Het
Cgn T A 3: 94,779,459 N178Y probably damaging Het
D5Ertd579e A T 5: 36,618,754 D168E probably damaging Het
Dnah17 G T 11: 118,049,934 T3288K probably damaging Het
Ednrb A T 14: 103,843,190 I96N probably damaging Het
Gdpd3 A G 7: 126,771,184 I264V possibly damaging Het
Itih4 T C 14: 30,895,448 V575A probably benign Het
Jhy G A 9: 40,917,216 R465C possibly damaging Het
Kcna4 C T 2: 107,296,733 S604F probably damaging Het
Kcnj6 A G 16: 94,832,955 V99A probably benign Het
Kdm2a A G 19: 4,342,860 I489T possibly damaging Het
Kif13a A G 13: 46,772,908 S241P probably damaging Het
Lax1 T C 1: 133,680,399 I201M probably benign Het
Lzic T A 4: 149,488,147 S65T probably benign Het
March9 T C 10: 127,056,693 T309A probably benign Het
Ndufc1 T C 3: 51,407,376 K70E possibly damaging Het
Olfr635 A T 7: 103,979,332 I53F probably damaging Het
Optn T C 2: 5,027,144 K504R probably benign Het
Pagr1a A G 7: 127,015,475 probably benign Het
Pold1 G A 7: 44,543,232 probably benign Het
Ptprq A G 10: 107,576,880 I1786T probably damaging Het
Rgs20 T C 1: 5,070,077 D34G possibly damaging Het
Rnps1 T C 17: 24,424,545 probably null Het
Rpgrip1 T C 14: 52,126,377 V261A probably damaging Het
Sfxn1 A G 13: 54,093,916 N220S probably benign Het
Slc35f1 T A 10: 53,073,446 probably benign Het
Slc5a4b T C 10: 76,070,495 probably benign Het
Snx19 A G 9: 30,428,771 I402V possibly damaging Het
Spaca6 T C 17: 17,831,167 V35A probably benign Het
Taar2 A G 10: 23,940,759 T66A probably benign Het
Tanc2 C T 11: 105,810,522 H288Y possibly damaging Het
Tbc1d31 A G 15: 57,940,768 Q393R probably benign Het
Trpm1 A G 7: 64,204,528 Y133C probably damaging Het
Vmn2r105 T C 17: 20,228,555 D120G probably benign Het
Vmn2r56 C A 7: 12,715,614 M232I probably benign Het
Zfp251 C T 15: 76,854,555 V113I probably benign Het
Other mutations in 1700011H14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:1700011H14Rik APN 14 49232967 missense probably benign 0.05
IGL03325:1700011H14Rik APN 14 49243820 splice site probably benign
R1751:1700011H14Rik UTSW 14 49235884 missense probably benign 0.09
R1767:1700011H14Rik UTSW 14 49235884 missense probably benign 0.09
R1846:1700011H14Rik UTSW 14 49235963 missense probably damaging 1.00
R1908:1700011H14Rik UTSW 14 49226575 missense probably damaging 1.00
R4563:1700011H14Rik UTSW 14 49234498 missense probably benign 0.27
R4883:1700011H14Rik UTSW 14 49245103 missense probably damaging 1.00
R4915:1700011H14Rik UTSW 14 49232894 missense probably benign 0.01
R5381:1700011H14Rik UTSW 14 49232907 missense probably damaging 1.00
R5986:1700011H14Rik UTSW 14 49232946 missense probably damaging 1.00
R6379:1700011H14Rik UTSW 14 49243734 missense probably benign 0.02
R6829:1700011H14Rik UTSW 14 49226568 makesense probably null
R6841:1700011H14Rik UTSW 14 49243813 critical splice acceptor site probably null
Posted On2013-11-11