Incidental Mutation 'R5832:Sarnp'
ID 449366
Institutional Source Beutler Lab
Gene Symbol Sarnp
Ensembl Gene ENSMUSG00000078427
Gene Name SAP domain containing ribonucleoprotein
Synonyms 1110005A23Rik
MMRRC Submission 044054-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R5832 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128657633-128713507 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 128684181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105230] [ENSMUST00000219512] [ENSMUST00000220381]
AlphaFold Q9D1J3
Predicted Effect probably null
Transcript: ENSMUST00000105230
SMART Domains Protein: ENSMUSP00000100863
Gene: ENSMUSG00000078427

DomainStartEndE-ValueType
SAP 8 42 2.49e-10 SMART
low complexity region 43 80 N/A INTRINSIC
internal_repeat_1 117 130 5.45e-5 PROSPERO
low complexity region 165 180 N/A INTRINSIC
internal_repeat_1 197 210 5.45e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218622
Predicted Effect probably null
Transcript: ENSMUST00000219512
Predicted Effect probably benign
Transcript: ENSMUST00000220381
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adgrv1 G A 13: 81,251,421 (GRCm39) S6232F possibly damaging Het
Alox12 T C 11: 70,144,106 (GRCm39) E129G probably damaging Het
Anxa13 C A 15: 58,205,389 (GRCm39) noncoding transcript Het
Arfgef3 C T 10: 18,506,168 (GRCm39) G878D probably damaging Het
Asnsd1 T C 1: 53,386,634 (GRCm39) D331G probably damaging Het
Crisp1 A G 17: 40,612,208 (GRCm39) probably null Het
Eml5 T C 12: 98,842,447 (GRCm39) N217S probably benign Het
Fat1 A T 8: 45,470,460 (GRCm39) Y1463F possibly damaging Het
Fhod3 T C 18: 25,223,752 (GRCm39) W1033R probably damaging Het
Galr2 T A 11: 116,172,457 (GRCm39) L49Q probably damaging Het
Gstm5 T C 3: 107,804,853 (GRCm39) V115A probably benign Het
Gtpbp2 C T 17: 46,478,788 (GRCm39) T535I probably damaging Het
Hk1 T C 10: 62,128,144 (GRCm39) E326G probably benign Het
Igfn1 A G 1: 135,902,533 (GRCm39) V388A probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Kitl C A 10: 99,915,882 (GRCm39) P137H probably damaging Het
Lamp3 A T 16: 19,520,070 (GRCm39) Y38N probably damaging Het
Lmo7 A T 14: 102,121,649 (GRCm39) N5I probably damaging Het
Mc3r T A 2: 172,091,350 (GRCm39) C191S probably benign Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mybpc3 A G 2: 90,949,520 (GRCm39) probably null Het
Nav2 A T 7: 49,197,817 (GRCm39) probably null Het
Patz1 C T 11: 3,256,277 (GRCm39) P521L probably benign Het
Pramel14 A G 4: 143,718,532 (GRCm39) S304P probably damaging Het
Prkcd T C 14: 30,327,778 (GRCm39) T103A probably damaging Het
Pttg1ip T C 10: 77,419,859 (GRCm39) probably null Het
Rcbtb2 C A 14: 73,404,262 (GRCm39) Q85K possibly damaging Het
Rdh16f1 T A 10: 127,624,618 (GRCm39) V152E probably damaging Het
Rsph4a A G 10: 33,785,498 (GRCm39) I470V probably benign Het
Slc39a6 C A 18: 24,734,669 (GRCm39) V7L possibly damaging Het
Slco1a4 A G 6: 141,765,270 (GRCm39) I324T probably benign Het
Spata31d1a A T 13: 59,849,380 (GRCm39) V916E probably damaging Het
Srgap1 T G 10: 121,676,819 (GRCm39) T392P probably damaging Het
Tbc1d20 A T 2: 152,153,282 (GRCm39) M271L possibly damaging Het
Tbc1d22b T C 17: 29,789,621 (GRCm39) I161T possibly damaging Het
Tcof1 G T 18: 60,952,611 (GRCm39) N918K unknown Het
Tnr A G 1: 159,713,692 (GRCm39) T707A probably benign Het
Trim66 A G 7: 109,054,409 (GRCm39) F1267S probably damaging Het
Trpm6 A G 19: 18,764,183 (GRCm39) H263R possibly damaging Het
Tshz2 T A 2: 169,725,965 (GRCm39) V187D possibly damaging Het
Ube2f T G 1: 91,213,046 (GRCm39) V176G possibly damaging Het
Vmn2r109 C T 17: 20,761,318 (GRCm39) A680T probably benign Het
Vmn2r77 T A 7: 86,460,670 (GRCm39) C665* probably null Het
Zfp954 A G 7: 7,118,389 (GRCm39) V385A probably damaging Het
Other mutations in Sarnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02947:Sarnp APN 10 128,675,723 (GRCm39) missense probably benign 0.38
PIT4151001:Sarnp UTSW 10 128,713,235 (GRCm39) missense probably benign 0.18
R1781:Sarnp UTSW 10 128,669,191 (GRCm39) missense probably damaging 1.00
R4560:Sarnp UTSW 10 128,682,412 (GRCm39) missense probably damaging 1.00
R4864:Sarnp UTSW 10 128,669,212 (GRCm39) missense probably damaging 1.00
R5498:Sarnp UTSW 10 128,689,063 (GRCm39) missense probably benign 0.25
R5936:Sarnp UTSW 10 128,684,640 (GRCm39) missense probably benign 0.04
R6959:Sarnp UTSW 10 128,684,137 (GRCm39) missense possibly damaging 0.68
R7367:Sarnp UTSW 10 128,669,247 (GRCm39) missense probably damaging 1.00
R7476:Sarnp UTSW 10 128,669,223 (GRCm39) missense probably benign 0.00
R9002:Sarnp UTSW 10 128,657,842 (GRCm39) critical splice donor site probably null
R9528:Sarnp UTSW 10 128,708,326 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTAAGCCTTAGAATGGCTGC -3'
(R):5'- TGGCAAAACTCAGTGAAAGC -3'

Sequencing Primer
(F):5'- AAGCCTTAGAATGGCTGCTACCTG -3'
(R):5'- TGGCAAAACTCAGTGAAAGCTATAAC -3'
Posted On 2016-12-20