Incidental Mutation 'R7175:Cirbp'
ID 558556
Institutional Source Beutler Lab
Gene Symbol Cirbp
Ensembl Gene ENSMUSG00000045193
Gene Name cold inducible RNA binding protein
Synonyms Cirp
MMRRC Submission 045231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7175 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80001824-80008620 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80006297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 130 (S130P)
Ref Sequence ENSEMBL: ENSMUSP00000101004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041882] [ENSMUST00000054666] [ENSMUST00000105365] [ENSMUST00000154726]
AlphaFold P60824
Predicted Effect probably benign
Transcript: ENSMUST00000041882
SMART Domains Protein: ENSMUSP00000037758
Gene: ENSMUSG00000035595

DomainStartEndE-ValueType
Pfam:DUF1180 11 108 4.3e-11 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000054666
AA Change: S130P
SMART Domains Protein: ENSMUSP00000052642
Gene: ENSMUSG00000045193
AA Change: S130P

DomainStartEndE-ValueType
RRM 7 80 1.62e-32 SMART
low complexity region 89 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105365
AA Change: S130P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101004
Gene: ENSMUSG00000045193
AA Change: S130P

DomainStartEndE-ValueType
RRM 7 80 1.62e-32 SMART
low complexity region 89 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154726
SMART Domains Protein: ENSMUSP00000121214
Gene: ENSMUSG00000045193

DomainStartEndE-ValueType
RRM 7 80 1.62e-32 SMART
low complexity region 89 108 N/A INTRINSIC
Meta Mutation Damage Score 0.0766 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired spermatogonia proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,831,611 (GRCm39) T1247I probably benign Het
Afdn T C 17: 14,108,869 (GRCm39) L1479P probably damaging Het
Alox12e T C 11: 70,210,534 (GRCm39) R363G probably damaging Het
Ank2 A T 3: 126,740,590 (GRCm39) S1765T unknown Het
Anks6 T C 4: 47,046,268 (GRCm39) probably null Het
Apob A C 12: 8,057,034 (GRCm39) I1839L probably benign Het
Bdp1 C A 13: 100,186,478 (GRCm39) R1658I probably damaging Het
Ccs T A 19: 4,883,390 (GRCm39) D136V probably damaging Het
Cd200 T C 16: 45,220,578 (GRCm39) probably null Het
Cpb1 A G 3: 20,317,927 (GRCm39) I199T probably benign Het
Csn3 C T 5: 88,077,586 (GRCm39) R31C probably damaging Het
Dcaf1 A T 9: 106,735,775 (GRCm39) I908F probably benign Het
Dhcr7 C T 7: 143,399,227 (GRCm39) T199I probably damaging Het
Dnah9 T A 11: 66,024,463 (GRCm39) Q277L probably benign Het
Echdc2 C A 4: 108,031,366 (GRCm39) P237T probably damaging Het
Efcab3 T C 11: 104,838,237 (GRCm39) V3625A unknown Het
Eif4g3 A G 4: 137,853,526 (GRCm39) N364S probably damaging Het
Eml6 T A 11: 29,734,231 (GRCm39) I1170L probably benign Het
Epha3 C T 16: 63,403,863 (GRCm39) R746Q probably damaging Het
Exosc5 G A 7: 25,363,794 (GRCm39) C102Y probably damaging Het
Fam91a1 A T 15: 58,302,527 (GRCm39) Y289F probably benign Het
Fbxo38 A C 18: 62,648,544 (GRCm39) F665V probably benign Het
Fcrl5 T C 3: 87,353,645 (GRCm39) V330A probably benign Het
Fer T A 17: 64,231,090 (GRCm39) D280E probably benign Het
Gpr158 A G 2: 21,373,113 (GRCm39) H16R probably benign Het
Gzmg C T 14: 56,396,979 (GRCm39) M1I probably null Het
Hectd4 C T 5: 121,411,692 (GRCm39) A456V possibly damaging Het
Hk2 T A 6: 82,711,830 (GRCm39) Q613L probably benign Het
Inhca A G 9: 103,128,988 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,938 (GRCm39) F1121L unknown Het
Lztr1 G T 16: 17,340,895 (GRCm39) C557F possibly damaging Het
Mdn1 A G 4: 32,694,634 (GRCm39) Y1119C probably damaging Het
Nfkb1 A T 3: 135,319,751 (GRCm39) L248Q probably damaging Het
Or1a1 T A 11: 74,087,004 (GRCm39) L225* probably null Het
Or1p1b T C 11: 74,130,803 (GRCm39) F138L probably benign Het
Or2g7 T A 17: 38,378,370 (GRCm39) S103T probably damaging Het
Or52e19 T C 7: 102,959,054 (GRCm39) V42A probably benign Het
Otulinl A C 15: 27,658,374 (GRCm39) D165E probably damaging Het
Pate1 T G 9: 35,596,408 (GRCm39) D119A probably damaging Het
Pcdhgc4 T C 18: 37,949,424 (GRCm39) V280A possibly damaging Het
Pik3ap1 T C 19: 41,275,929 (GRCm39) D717G probably damaging Het
Prdm13 A T 4: 21,679,473 (GRCm39) L339Q unknown Het
Rasgrf1 T A 9: 89,862,802 (GRCm39) N519K probably benign Het
Rergl A G 6: 139,473,533 (GRCm39) V39A probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sema4b T A 7: 79,848,402 (GRCm39) M1K probably null Het
Slc20a1 T G 2: 129,052,662 (GRCm39) L648R probably damaging Het
Spata31h1 T A 10: 82,122,583 (GRCm39) S3476C probably damaging Het
Speg A G 1: 75,399,134 (GRCm39) T2194A probably benign Het
Spns1 T C 7: 125,972,961 (GRCm39) D215G probably damaging Het
Tle4 A T 19: 14,429,071 (GRCm39) V717E probably damaging Het
Trim50 T A 5: 135,382,151 (GRCm39) M1K probably null Het
Trpa1 A G 1: 14,963,431 (GRCm39) V597A possibly damaging Het
Usp13 C T 3: 32,971,757 (GRCm39) Q746* probably null Het
Vmn1r35 A T 6: 66,655,906 (GRCm39) W255R probably benign Het
Vps35 A T 8: 85,990,189 (GRCm39) probably null Het
Vps54 T C 11: 21,265,028 (GRCm39) probably null Het
Zfp318 T A 17: 46,697,774 (GRCm39) L210Q probably damaging Het
Zfp319 C A 8: 96,055,410 (GRCm39) K264N probably damaging Het
Zfp62 C T 11: 49,107,580 (GRCm39) S557L probably damaging Het
Zgrf1 T C 3: 127,357,239 (GRCm39) S822P probably damaging Het
Zxdc A G 6: 90,346,645 (GRCm39) D2G possibly damaging Het
Zzef1 T C 11: 72,742,727 (GRCm39) I769T possibly damaging Het
Other mutations in Cirbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2064:Cirbp UTSW 10 80,006,166 (GRCm39) unclassified probably benign
R4576:Cirbp UTSW 10 80,006,075 (GRCm39) missense probably damaging 1.00
R5351:Cirbp UTSW 10 80,006,136 (GRCm39) unclassified probably benign
R8845:Cirbp UTSW 10 80,005,931 (GRCm39) missense probably damaging 1.00
X0063:Cirbp UTSW 10 80,005,949 (GRCm39) missense probably damaging 1.00
Z1177:Cirbp UTSW 10 80,006,069 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCTTCTGACAACCGGTCC -3'
(R):5'- GGCAAGAGTTGGTTCTCAGTAG -3'

Sequencing Primer
(F):5'- AACCGGTCCCGAGGATAC -3'
(R):5'- CTCAGTAGAGAACAAAACCAAACC -3'
Posted On 2019-06-26