Incidental Mutation 'IGL03006:1700037H04Rik'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700037H04Rik
Ensembl Gene ENSMUSG00000027327
Gene NameRIKEN cDNA 1700037H04 gene
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03006
Quality Score
Chromosomal Location131146324-131160081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 131151714 bp
Amino Acid Change Aspartic acid to Glutamic Acid at position 22 (D22E)
Ref Sequence ENSEMBL: ENSMUSP00000138853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028800] [ENSMUST00000103188] [ENSMUST00000133602] [ENSMUST00000184121] [ENSMUST00000184535]
Predicted Effect probably benign
Transcript: ENSMUST00000028800
AA Change: D25E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028800
Gene: ENSMUSG00000027327
AA Change: D25E

Pfam:DUF4517 30 177 1.6e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103188
AA Change: D22E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099477
Gene: ENSMUSG00000027327
AA Change: D22E

Pfam:DUF4517 27 174 1.1e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133602
AA Change: D22E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115000
Gene: ENSMUSG00000027327
AA Change: D22E

Pfam:DUF4517 27 140 3.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152961
Predicted Effect unknown
Transcript: ENSMUST00000184121
AA Change: M21R
Predicted Effect probably damaging
Transcript: ENSMUST00000184535
AA Change: D22E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,827,845 S21C probably damaging Het
2210408I21Rik T C 13: 77,323,772 probably null Het
Abcc3 T C 11: 94,368,595 D340G probably benign Het
Adamts17 G T 7: 67,078,347 R879L possibly damaging Het
Cacna1f C A X: 7,626,903 T1275K probably damaging Het
Csmd2 T A 4: 128,480,765 probably benign Het
Dll1 C T 17: 15,373,592 R171Q probably benign Het
Dnm1 T A 2: 32,353,121 D30V possibly damaging Het
Fam184a G A 10: 53,698,697 S216L probably damaging Het
Fbxo33 G A 12: 59,204,319 A470V probably benign Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Ighv7-1 A T 12: 113,896,525 S82R probably damaging Het
Klk1b4 A G 7: 44,211,595 I221V probably benign Het
Lama3 T C 18: 12,468,368 probably benign Het
Lrch1 A G 14: 74,813,620 L359P probably damaging Het
Mapk8ip3 T C 17: 24,901,515 T882A probably benign Het
Med12 C T X: 101,278,078 R456W probably damaging Het
Mms22l T C 4: 24,521,253 S267P probably damaging Het
Mtpap G A 18: 4,375,721 G34R possibly damaging Het
Nf1 G A 11: 79,545,431 D1966N probably damaging Het
Nlrp9c G A 7: 26,372,082 T867I probably damaging Het
Nrap C T 19: 56,347,164 V941I probably benign Het
Olfr172 T A 16: 58,761,148 K9N probably benign Het
Pcdh10 A G 3: 45,379,502 I84V probably damaging Het
Polr3d T A 14: 70,441,163 probably null Het
Prkar2a G T 9: 108,740,441 V233L probably benign Het
Prl4a1 T C 13: 28,023,376 V211A probably damaging Het
Qpct T C 17: 79,070,722 V107A probably benign Het
Rai1 T C 11: 60,188,205 S1032P possibly damaging Het
Rims1 G T 1: 22,296,954 T1113K probably damaging Het
Rxra C T 2: 27,759,645 T454I probably damaging Het
S100z T C 13: 95,478,619 I13V probably damaging Het
Scp2 T C 4: 108,091,280 K167E probably benign Het
Sephs2 A G 7: 127,273,034 F296L probably benign Het
Setd1b A G 5: 123,148,451 E520G unknown Het
Slc28a2 G A 2: 122,452,538 V308M possibly damaging Het
Smarcad1 T A 6: 65,083,889 I451K probably benign Het
Tarbp1 C T 8: 126,444,142 D1040N probably damaging Het
Tdrd6 T C 17: 43,625,432 D1575G probably damaging Het
Tll1 T A 8: 64,074,217 probably benign Het
Tsks A T 7: 44,950,774 probably benign Het
Ttc1 A T 11: 43,745,320 M32K probably benign Het
Txlnb C T 10: 17,838,975 A385V probably damaging Het
Zc4h2 T C X: 95,643,413 H98R probably damaging Het
Other mutations in 1700037H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03274:1700037H04Rik APN 2 131153592 critical splice donor site probably null
R6520:1700037H04Rik UTSW 2 131147254 missense probably damaging 1.00
Posted On2016-08-02