Incidental Mutation 'IGL02133:1700011H14Rik'
ID281062
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: 0.059) question?
Stock #IGL02133
Quality Score
Status
Chromosome14
Chromosomal Location49219588-49245474 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49232967 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 165 (Q165L)
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: Q174L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: Q174L

DomainStartEndE-ValueType
Pfam:DUF4619 1 294 1e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130853
AA Change: Q165L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850
AA Change: Q165L

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: Q165L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000228936
AA Change: Q165L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik G T 11: 52,403,510 A193S probably damaging Het
Adam4 A G 12: 81,420,029 V606A probably benign Het
Atp2c2 A G 8: 119,754,335 I821V probably benign Het
Bmi1 A T 2: 18,683,677 R160W probably damaging Het
Ccdc88c G A 12: 100,940,090 R1062C probably damaging Het
Cntnap3 A T 13: 64,751,673 probably benign Het
Col20a1 C T 2: 181,007,144 T940I probably damaging Het
Csmd3 A C 15: 47,857,942 M1535R possibly damaging Het
Dhx38 C A 8: 109,558,241 E487* probably null Het
Fam186b A G 15: 99,273,703 S888P probably damaging Het
Fancm G A 12: 65,106,475 G1235D probably benign Het
Grin3a C T 4: 49,792,946 W262* probably null Het
Gtdc1 A T 2: 44,575,443 M305K probably damaging Het
H2-M9 T C 17: 36,641,737 E139G possibly damaging Het
Haus1 A T 18: 77,766,911 L53Q probably damaging Het
Hgfac A G 5: 35,046,587 Y483C probably damaging Het
Hipk2 C T 6: 38,819,134 V67I probably benign Het
Kbtbd8 T C 6: 95,121,732 probably benign Het
Kndc1 A G 7: 139,920,767 T683A probably benign Het
Ldhb A T 6: 142,492,500 M277K probably benign Het
Mgam T C 6: 40,643,076 L33P probably damaging Het
Ndst1 A G 18: 60,699,546 F571L probably benign Het
Neb G T 2: 52,212,804 probably null Het
Nrxn1 A G 17: 90,643,243 S503P probably damaging Het
Paqr3 A G 5: 97,095,931 V308A probably benign Het
Scnn1g T C 7: 121,743,699 F292L probably damaging Het
Stk3 A G 15: 35,099,516 F88S probably damaging Het
Tcaf2 T A 6: 42,627,396 E683V probably benign Het
Tprkb T C 6: 85,927,911 V123A probably benign Het
Ush2a T C 1: 188,443,343 Y1213H probably damaging Het
Vwa5b1 A G 4: 138,586,557 probably null Het
Wls A G 3: 159,897,370 Y140C probably damaging Het
Zan A G 5: 137,411,498 S28P possibly damaging Het
Other mutations in 1700011H14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:1700011H14Rik APN 14 49235884 missense probably benign 0.02
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 On2015-04-16