Incidental Mutation 'R1736:Sap30bp'
ID199733
Institutional Source Beutler Lab
Gene Symbol Sap30bp
Ensembl Gene ENSMUSG00000020755
Gene NameSAP30 binding protein
SynonymsHcngp, 2700016D05Rik
MMRRC Submission 039768-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1736 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location115933282-115966725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115964220 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 252 (K252R)
Ref Sequence ENSEMBL: ENSMUSP00000114844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140991]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000021101
Predicted Effect probably damaging
Transcript: ENSMUST00000140991
AA Change: K252R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114844
Gene: ENSMUSG00000020755
AA Change: K252R

DomainStartEndE-ValueType
SCOP:d1qbkb_ 4 81 2e-3 SMART
Pfam:HCNGP 119 213 6.5e-38 PFAM
low complexity region 224 248 N/A INTRINSIC
low complexity region 263 289 N/A INTRINSIC
Meta Mutation Damage Score 0.1072 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (57/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit anemia at E16. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,779,518 probably benign Het
Adcy3 A G 12: 4,200,998 N586D possibly damaging Het
Ak6 T A 13: 100,655,181 probably null Het
Ankrd66 T C 17: 43,543,518 D41G probably benign Het
Atp8b2 G A 3: 89,952,694 P339S probably damaging Het
BC025446 G A 15: 75,217,720 G26R probably damaging Het
Cacna1d C T 14: 30,089,863 V1297I probably damaging Het
Cbl A T 9: 44,152,895 D781E possibly damaging Het
Cep295 C T 9: 15,340,883 E397K probably damaging Het
Ces4a G A 8: 105,138,097 G69S probably damaging Het
Clint1 A G 11: 45,906,177 probably null Het
Col6a3 A G 1: 90,779,059 Y2111H unknown Het
Csnk1g1 A G 9: 66,019,915 probably null Het
Dse A T 10: 34,153,149 N648K probably damaging Het
Dsp A G 13: 38,192,990 K1584E probably benign Het
Ezh2 A T 6: 47,576,660 M41K probably damaging Het
Fam71e2 A G 7: 4,758,154 S520P probably damaging Het
Fscn2 G A 11: 120,368,026 G466S probably damaging Het
Gm15217 A G 14: 46,383,206 probably benign Het
Gm9696 T C 3: 59,972,275 noncoding transcript Het
Gosr2 G A 11: 103,679,250 Q162* probably null Het
Hectd4 T A 5: 121,349,530 H3529Q possibly damaging Het
Klf7 C A 1: 64,079,213 R75L possibly damaging Het
Kmt2c A T 5: 25,290,527 I4074K probably damaging Het
Map3k11 A G 19: 5,697,401 D555G probably benign Het
Mindy2 A G 9: 70,631,030 I341T probably damaging Het
Mrnip G A 11: 50,176,891 probably null Het
Muc5b G A 7: 141,859,107 C1930Y unknown Het
Nfatc3 T G 8: 106,078,850 I109S probably damaging Het
Npas1 G T 7: 16,474,616 A112D probably benign Het
Npffr2 T A 5: 89,568,066 I84N probably damaging Het
Nxph4 T A 10: 127,526,596 H142L probably damaging Het
Otud4 T A 8: 79,651,665 probably benign Het
Per3 A G 4: 151,009,248 probably null Het
Pigr G A 1: 130,841,803 R117Q possibly damaging Het
Plec C T 15: 76,186,218 V931M probably damaging Het
Prex2 T A 1: 11,089,884 probably benign Het
Sall4 G A 2: 168,752,635 P420L probably benign Het
Sec63 T A 10: 42,827,918 Y692* probably null Het
Sema3e C T 5: 14,210,376 T181M probably damaging Het
Sf3b3 T C 8: 110,813,832 I986V probably benign Het
Shisa4 A T 1: 135,371,962 Y194* probably null Het
Slc17a6 G A 7: 51,661,585 probably benign Het
Smg1 T G 7: 118,165,967 probably null Het
Smim7 C T 8: 72,571,005 G9R probably damaging Het
Spata31d1d C T 13: 59,726,497 G1075R probably benign Het
Sphkap G A 1: 83,277,515 R838* probably null Het
Stag3 T C 5: 138,304,509 probably benign Het
Tbce A G 13: 14,009,642 I217T possibly damaging Het
Tpk1 G A 6: 43,611,350 P27S probably benign Het
Tsc22d1 A G 14: 76,418,357 I2V probably benign Het
Tulp4 T G 17: 6,233,215 V1173G possibly damaging Het
Uchl1 T C 5: 66,677,074 probably null Het
Ugt2b38 T A 5: 87,423,633 Q180L probably benign Het
Other mutations in Sap30bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Sap30bp APN 11 115962547 missense probably damaging 1.00
IGL03089:Sap30bp APN 11 115957388 missense possibly damaging 0.47
IGL03365:Sap30bp APN 11 115964252 missense possibly damaging 0.75
R0374:Sap30bp UTSW 11 115964277 missense probably damaging 0.99
R0634:Sap30bp UTSW 11 115957403 missense probably damaging 1.00
R6996:Sap30bp UTSW 11 115933488 start gained probably benign
R7465:Sap30bp UTSW 11 115951968 missense probably benign
RF024:Sap30bp UTSW 11 115960507 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTAATGCCAAACTCCTGTGCCC -3'
(R):5'- TGCTTGGCCTTCTTCACGATGG -3'

Sequencing Primer
(F):5'- CCTCCAGATTGAGTTTGTAACG -3'
(R):5'- TTCACGATGGTGCCCACAG -3'
Posted On2014-05-23