Incidental Mutation 'R6520:1700037H04Rik'
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ID521080
Institutional Source Beutler Lab
Gene Symbol 1700037H04Rik
Ensembl Gene ENSMUSG00000027327
Gene NameRIKEN cDNA 1700037H04 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #R6520 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location131146324-131160081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 131147254 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 111 (H111N)
Ref Sequence ENSEMBL: ENSMUSP00000115000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028800] [ENSMUST00000099349] [ENSMUST00000103188] [ENSMUST00000127862] [ENSMUST00000133602] [ENSMUST00000184121] [ENSMUST00000184535]
Predicted Effect probably damaging
Transcript: ENSMUST00000028800
AA Change: H114N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028800
Gene: ENSMUSG00000027327
AA Change: H114N

DomainStartEndE-ValueType
Pfam:DUF4517 30 177 1.6e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099349
SMART Domains Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
SCOP:d1bupa1 62 248 3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103188
AA Change: H111N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099477
Gene: ENSMUSG00000027327
AA Change: H111N

DomainStartEndE-ValueType
Pfam:DUF4517 27 174 1.1e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127862
Predicted Effect probably damaging
Transcript: ENSMUST00000133602
AA Change: H111N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115000
Gene: ENSMUSG00000027327
AA Change: H111N

DomainStartEndE-ValueType
Pfam:DUF4517 27 140 3.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152961
Predicted Effect probably benign
Transcript: ENSMUST00000184121
Predicted Effect probably benign
Transcript: ENSMUST00000184535
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,517,285 D116G possibly damaging Het
Adam22 C T 5: 8,116,635 V699M probably damaging Het
Adh7 A G 3: 138,224,010 Y149C probably damaging Het
Angptl3 A C 4: 99,037,848 N405T probably benign Het
Ank3 A G 10: 69,988,387 H180R probably damaging Het
Apob T A 12: 7,983,124 I159N probably damaging Het
Arhgap24 T C 5: 102,880,793 V185A probably benign Het
Atf6 A T 1: 170,867,669 H11Q probably benign Het
Atxn3 C A 12: 101,934,401 D208Y probably damaging Het
Brd9 G A 13: 73,942,794 R273K probably benign Het
Cbfa2t3 T A 8: 122,635,801 R302W probably benign Het
Ccdc175 C A 12: 72,140,030 G347C probably damaging Het
Ccdc87 A G 19: 4,841,789 K770E probably damaging Het
Ccl17 T C 8: 94,810,550 F27L probably benign Het
Cd3g A T 9: 44,971,315 probably null Het
Cep350 A G 1: 155,933,336 V498A probably benign Het
Cfap45 A G 1: 172,540,584 D381G probably damaging Het
Cfap46 A G 7: 139,614,405 probably null Het
Cnrip1 T A 11: 17,078,536 M156K probably damaging Het
Col23a1 T C 11: 51,549,725 probably null Het
Col4a1 C T 8: 11,219,152 G933S probably damaging Het
Col5a3 C T 9: 20,774,052 V1443I unknown Het
Col6a6 T C 9: 105,785,825 E171G possibly damaging Het
Dennd1a A T 2: 37,961,747 probably null Het
Dlk2 C T 17: 46,302,512 T188I probably damaging Het
Dusp8 A G 7: 142,083,681 I203T probably damaging Het
Eno2 C T 6: 124,767,715 R56H probably damaging Het
Erich3 A T 3: 154,763,465 T1185S probably damaging Het
Evi5l A T 8: 4,205,906 Q575L possibly damaging Het
Fam187a T A 11: 102,885,875 H168Q possibly damaging Het
Fat2 T A 11: 55,284,988 E1633V probably damaging Het
Fbln2 G A 6: 91,259,659 D719N probably damaging Het
Fbn2 A T 18: 58,102,390 S672T probably damaging Het
Gas8 C G 8: 123,526,474 A187G probably benign Het
Gm2696 G A 10: 77,836,498 probably benign Het
Gnl1 A T 17: 35,982,953 K272M probably benign Het
Gtf2h3 C T 5: 124,584,297 T121I probably benign Het
Hemgn T G 4: 46,396,466 K257Q probably damaging Het
Hgsnat T C 8: 25,953,300 Y474C probably damaging Het
Hoxc4 T C 15: 103,034,954 S78P probably benign Het
Igkv14-100 T A 6: 68,519,234 L37Q probably damaging Het
Iqck A T 7: 118,941,631 K251M probably damaging Het
Itgal A T 7: 127,330,331 Q1140L probably benign Het
Itpka A G 2: 119,750,778 R431G probably benign Het
Jade1 A G 3: 41,604,482 N333D possibly damaging Het
Jmjd7 A G 2: 120,031,319 H181R probably damaging Het
Jmy A G 13: 93,454,039 S519P probably benign Het
Klra10 T A 6: 130,275,792 H173L probably benign Het
Krt72 T G 15: 101,781,046 I284L probably benign Het
Krt78 C A 15: 101,951,771 V237F probably benign Het
Mapkapk3 G A 9: 107,257,449 T296M probably damaging Het
Mcmbp A C 7: 128,712,727 V255G possibly damaging Het
Mcoln1 T G 8: 3,505,855 M50R probably damaging Het
Mocos T A 18: 24,666,390 V227E probably benign Het
Mpeg1 A G 19: 12,461,958 E260G probably benign Het
Mrc1 A T 2: 14,307,949 N894I probably damaging Het
Mroh7 A G 4: 106,721,263 S73P probably benign Het
Myo3a A T 2: 22,399,926 I690L possibly damaging Het
Naa50 T G 16: 44,159,509 F87V probably damaging Het
Ndufs6 G T 13: 73,328,352 T32K probably damaging Het
Nfe2l2 A G 2: 75,676,568 V396A probably benign Het
Nptn A G 9: 58,643,734 E348G probably damaging Het
Nsun4 A T 4: 116,044,738 L177Q probably damaging Het
Olfr1083-ps A G 2: 86,607,118 L151P unknown Het
Olfr504 A G 7: 108,564,839 *319Q probably null Het
Olfr974 T C 9: 39,942,362 I34T possibly damaging Het
Plekha7 A G 7: 116,164,482 V233A probably benign Het
Polq C A 16: 37,060,377 Q968K possibly damaging Het
Prmt7 C T 8: 106,234,884 T143M probably damaging Het
Ptprc G A 1: 138,080,143 Q886* probably null Het
Rbp7 C A 4: 149,452,914 V36L possibly damaging Het
Rev3l A T 10: 39,822,702 N1065I probably benign Het
Scamp5 A T 9: 57,447,206 probably null Het
Sec16a A G 2: 26,426,106 S1698P probably damaging Het
Spr C A 6: 85,137,492 R85L probably benign Het
Sptlc2 A C 12: 87,355,662 N163K probably benign Het
Stk10 C T 11: 32,588,839 T226M probably damaging Het
Sv2c A G 13: 95,986,721 Y415H probably benign Het
Tet1 A G 10: 62,880,013 M1T probably null Het
Tnnt1 T A 7: 4,509,061 K150* probably null Het
Trappc10 C T 10: 78,201,453 V839M probably benign Het
Ubap2 T C 4: 41,195,155 N1131S probably damaging Het
Upk2 T C 9: 44,453,506 E132G probably damaging Het
Vmn2r117 A T 17: 23,460,219 V677D probably damaging Het
Vps13a A T 19: 16,725,579 L670H probably damaging Het
Wwc1 C T 11: 35,853,437 E853K probably benign Het
Zfp512 G A 5: 31,466,640 R67H probably damaging Het
Zfp804b T A 5: 6,769,283 H1260L probably damaging Het
Zzef1 C A 11: 72,826,065 N360K probably damaging Het
Other mutations in 1700037H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:1700037H04Rik APN 2 131151714 missense probably damaging 0.99
IGL03274:1700037H04Rik APN 2 131153592 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCCTGCCAGCTTCAAGAATC -3'
(R):5'- TCCACCTTTAGAGCCACACTGAG -3'

Sequencing Primer
(F):5'- GAATCTATTGAAGCCGGTCTCATGTC -3'
(R):5'- TTAGAGCCACACTGAGTTCTCAGG -3'
Posted On2018-06-06