Incidental Mutation 'R8131:Slirp'
ID 652061
Institutional Source Beutler Lab
Gene Symbol Slirp
Ensembl Gene ENSMUSG00000021040
Gene Name SRA stem-loop interacting RNA binding protein
Synonyms 1810035L17Rik
MMRRC Submission 067560-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R8131 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 87490666-87496694 bp(+) (GRCm39)
Type of Mutation splice site (36 bp from exon)
DNA Base Change (assembly) T to A at 87494428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021428] [ENSMUST00000077462] [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000160488] [ENSMUST00000161023] [ENSMUST00000161712] [ENSMUST00000162247] [ENSMUST00000162961] [ENSMUST00000162986] [ENSMUST00000185301]
AlphaFold Q9D8T7
Predicted Effect probably benign
Transcript: ENSMUST00000021428
SMART Domains Protein: ENSMUSP00000021428
Gene: ENSMUSG00000021039

DomainStartEndE-ValueType
Pfam:SKIP_SNW 175 335 2e-78 PFAM
low complexity region 524 536 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000077462
SMART Domains Protein: ENSMUSP00000076673
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
RRM 18 82 1.08e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159079
SMART Domains Protein: ENSMUSP00000124445
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160113
SMART Domains Protein: ENSMUSP00000124691
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000160488
SMART Domains Protein: ENSMUSP00000124174
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
RRM 20 92 2.41e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160880
SMART Domains Protein: ENSMUSP00000125727
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
Blast:RRM 15 47 6e-17 BLAST
SCOP:d1u2fa_ 17 59 2e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161023
SMART Domains Protein: ENSMUSP00000125341
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
RRM 20 92 1.73e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161712
SMART Domains Protein: ENSMUSP00000124933
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162247
SMART Domains Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162961
SMART Domains Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:2OG-FeII_Oxy_2 98 344 6.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162986
SMART Domains Protein: ENSMUSP00000125372
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185301
SMART Domains Protein: ENSMUSP00000140233
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 54 66 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene results in partial preweaning lethality and reduced male fertility characterized by asthenozoospermia and abnormal sperm annulus and sperm mitochondrial sheath morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A G 11: 70,506,834 (GRCm39) probably null Het
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Acan C T 7: 78,741,086 (GRCm39) P484L possibly damaging Het
Amotl2 T A 9: 102,597,615 (GRCm39) Y125N probably damaging Het
Apaf1 C A 10: 90,913,420 (GRCm39) V168F possibly damaging Het
Arhgap32 C T 9: 32,158,426 (GRCm39) H154Y probably damaging Het
B4galnt3 A G 6: 120,271,346 (GRCm39) probably null Het
Bahcc1 C T 11: 120,163,664 (GRCm39) A654V probably benign Het
Bcl11b T A 12: 107,931,967 (GRCm39) M202L probably benign Het
Cdc40 C A 10: 40,717,473 (GRCm39) R406L possibly damaging Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Col26a1 T C 5: 136,775,894 (GRCm39) D353G probably benign Het
Col6a5 T A 9: 105,778,815 (GRCm39) Q1682L unknown Het
Cul9 C T 17: 46,822,168 (GRCm39) G1819D probably damaging Het
Cyp2b10 C T 7: 25,614,242 (GRCm39) Q239* probably null Het
Dthd1 T A 5: 63,000,259 (GRCm39) I527N probably damaging Het
Dzip3 C T 16: 48,754,156 (GRCm39) probably null Het
Ecm2 A G 13: 49,671,940 (GRCm39) E147G probably benign Het
Ercc6l2 C T 13: 63,982,561 (GRCm39) T132M probably damaging Het
Esf1 G A 2: 139,990,751 (GRCm39) Q578* probably null Het
Gria4 C T 9: 4,502,429 (GRCm39) R368H probably benign Het
Hps5 T C 7: 46,421,312 (GRCm39) D717G probably benign Het
Hrh1 A T 6: 114,457,253 (GRCm39) D178V probably benign Het
Inppl1 T C 7: 101,479,268 (GRCm39) N537S possibly damaging Het
Itih1 T C 14: 30,663,521 (GRCm39) Y165C probably damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Larp4 T C 15: 99,892,570 (GRCm39) V255A probably damaging Het
Lrriq1 T G 10: 103,051,572 (GRCm39) R393S possibly damaging Het
Mep1a T A 17: 43,813,558 (GRCm39) I31L probably benign Het
Muc5b C T 7: 141,396,146 (GRCm39) T134I unknown Het
Neurl4 T C 11: 69,800,067 (GRCm39) Y1052H probably benign Het
Nlrc5 C G 8: 95,208,420 (GRCm39) N755K probably damaging Het
Nrde2 T C 12: 100,108,502 (GRCm39) K363R probably benign Het
Pcdhb12 T C 18: 37,570,335 (GRCm39) S494P possibly damaging Het
Pcnx1 C A 12: 81,965,292 (GRCm39) S486R possibly damaging Het
Pira13 T A 7: 3,825,161 (GRCm39) R494* probably null Het
Plrg1 T A 3: 82,977,081 (GRCm39) V374E probably damaging Het
Plxnb2 A G 15: 89,042,916 (GRCm39) I1491T probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn4a T C 11: 106,232,367 (GRCm39) E490G probably benign Het
Sec16a A G 2: 26,300,958 (GRCm39) V887A Het
Serpina3a T C 12: 104,082,467 (GRCm39) I80T probably damaging Het
Setd1b A T 5: 123,281,443 (GRCm39) I66F unknown Het
Socs6 A C 18: 88,888,169 (GRCm39) S249A probably benign Het
Thoc2l A G 5: 104,669,027 (GRCm39) E1183G possibly damaging Het
Ttn A T 2: 76,616,077 (GRCm39) I16622N probably damaging Het
Uox A T 3: 146,331,589 (GRCm39) T237S probably damaging Het
Vmn2r43 T A 7: 8,258,326 (GRCm39) I296L probably benign Het
Vmn2r74 T A 7: 85,601,943 (GRCm39) D565V probably benign Het
Vps13b T C 15: 35,372,255 (GRCm39) probably null Het
Vps13d A G 4: 144,882,707 (GRCm39) V962A Het
Other mutations in Slirp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01675:Slirp APN 12 87,490,787 (GRCm39) missense probably damaging 0.98
R5071:Slirp UTSW 12 87,490,784 (GRCm39) missense probably damaging 1.00
R5074:Slirp UTSW 12 87,490,784 (GRCm39) missense probably damaging 1.00
R5373:Slirp UTSW 12 87,496,192 (GRCm39) missense possibly damaging 0.83
R5374:Slirp UTSW 12 87,496,192 (GRCm39) missense possibly damaging 0.83
R5982:Slirp UTSW 12 87,490,784 (GRCm39) missense probably damaging 1.00
R8024:Slirp UTSW 12 87,494,370 (GRCm39) missense probably damaging 0.98
R9220:Slirp UTSW 12 87,494,376 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGACTCAGGAAATGCAAAGTATTC -3'
(R):5'- CACCACCATCACTGGATAGG -3'

Sequencing Primer
(F):5'- CATGAATTCTGGAACCTTTCTGAG -3'
(R):5'- GAATGCATAAACAACTGCGA -3'
Posted On 2020-10-02