Incidental Mutation 'R0926:Zcrb1'
ID 83224
Institutional Source Beutler Lab
Gene Symbol Zcrb1
Ensembl Gene ENSMUSG00000022635
Gene Name zinc finger CCHC-type and RNA binding motif 1
Synonyms 2700088M22Rik
MMRRC Submission 039073-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R0926 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 93283987-93296218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93289409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 51 (K51E)
Ref Sequence ENSEMBL: ENSMUSP00000075441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076070] [ENSMUST00000161409] [ENSMUST00000162160]
AlphaFold Q9CZ96
Predicted Effect probably damaging
Transcript: ENSMUST00000076070
AA Change: K51E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075441
Gene: ENSMUSG00000022635
AA Change: K51E

DomainStartEndE-ValueType
RRM 11 84 3.3e-24 SMART
ZnF_C2HC 106 122 3.83e-3 SMART
low complexity region 125 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160407
Predicted Effect probably benign
Transcript: ENSMUST00000161409
SMART Domains Protein: ENSMUSP00000125442
Gene: ENSMUSG00000022635

DomainStartEndE-ValueType
Pfam:RRM_1 12 45 8.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161955
Predicted Effect probably damaging
Transcript: ENSMUST00000162160
AA Change: K51E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124549
Gene: ENSMUSG00000022635
AA Change: K51E

DomainStartEndE-ValueType
RRM 11 84 3.3e-24 SMART
ZnF_C2HC 106 122 3.83e-3 SMART
low complexity region 125 160 N/A INTRINSIC
Meta Mutation Damage Score 0.7942 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,832 (GRCm39) D514G probably damaging Het
Acbd7 A T 2: 3,341,478 (GRCm39) I41F possibly damaging Het
Actr8 G T 14: 29,709,181 (GRCm39) V262L probably benign Het
Anp32e A G 3: 95,844,454 (GRCm39) D108G probably damaging Het
Banp G A 8: 122,747,294 (GRCm39) G448S probably benign Het
Camsap3 G A 8: 3,637,960 (GRCm39) probably null Het
Cd22 C A 7: 30,568,934 (GRCm39) probably null Het
Cfap58 A T 19: 47,951,001 (GRCm39) Q454L probably damaging Het
Cntn4 C T 6: 106,632,542 (GRCm39) T522I probably benign Het
Col11a1 G A 3: 113,883,829 (GRCm39) D233N unknown Het
Csmd1 G T 8: 16,083,590 (GRCm39) probably null Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
D5Ertd579e G T 5: 36,830,210 (GRCm39) P38Q probably damaging Het
Dnal4 T C 15: 79,646,226 (GRCm39) T93A probably benign Het
Dsp A T 13: 38,367,194 (GRCm39) D614V probably damaging Het
Fcgr1 A T 3: 96,199,682 (GRCm39) I75N possibly damaging Het
Fgd6 T A 10: 93,970,909 (GRCm39) Y1229N probably benign Het
Fhip2a G A 19: 57,369,522 (GRCm39) A383T probably damaging Het
Frmpd1 T G 4: 45,268,497 (GRCm39) L214R probably damaging Het
Gapvd1 A T 2: 34,602,337 (GRCm39) D603E probably damaging Het
H2-M9 A G 17: 36,952,665 (GRCm39) V127A probably damaging Het
Herc2 T A 7: 55,782,296 (GRCm39) S1328T possibly damaging Het
Ica1l T C 1: 60,045,456 (GRCm39) N269S probably benign Het
Il18r1 T C 1: 40,526,188 (GRCm39) Y245H probably damaging Het
Il6ra A T 3: 89,794,376 (GRCm39) V195E probably damaging Het
Inpp5j A G 11: 3,451,439 (GRCm39) probably benign Het
Isy1 T C 6: 87,796,125 (GRCm39) T271A probably benign Het
Klra9 T C 6: 130,155,993 (GRCm39) Y254C probably damaging Het
Ly6e T G 15: 74,830,219 (GRCm39) S73A probably damaging Het
Mcmdc2 T A 1: 9,990,801 (GRCm39) L326* probably null Het
Muc4 G A 16: 32,576,570 (GRCm39) probably benign Het
Myh3 A G 11: 66,981,340 (GRCm39) probably null Het
Ndor1 G A 2: 25,138,360 (GRCm39) H409Y probably benign Het
Nwd2 A G 5: 63,965,234 (GRCm39) D1606G probably damaging Het
Or2t44 A G 11: 58,677,935 (GRCm39) N292D probably damaging Het
Or3a1d G A 11: 74,238,132 (GRCm39) R93C probably benign Het
Or4f7 A G 2: 111,644,892 (GRCm39) Y60H probably damaging Het
Or51f1e T C 7: 102,747,092 (GRCm39) L48P probably damaging Het
Or5b99 A T 19: 12,976,554 (GRCm39) D68V probably damaging Het
Or5h18 A G 16: 58,848,051 (GRCm39) I73T possibly damaging Het
Or5l13 A T 2: 87,780,266 (GRCm39) F104I probably damaging Het
Paox C A 7: 139,713,951 (GRCm39) T237K probably damaging Het
Pcmtd1 T A 1: 7,231,243 (GRCm39) L4I probably damaging Het
Pfkl T A 10: 77,836,523 (GRCm39) T165S probably damaging Het
Pik3ap1 A G 19: 41,290,964 (GRCm39) S523P probably benign Het
Pitpnm1 A G 19: 4,162,338 (GRCm39) D1056G probably damaging Het
Pitpnm2 G A 5: 124,269,272 (GRCm39) T450I probably benign Het
Pou2f3 T C 9: 43,058,198 (GRCm39) D37G probably damaging Het
Prdm5 A G 6: 65,860,531 (GRCm39) H221R probably damaging Het
Pwp1 T A 10: 85,712,378 (GRCm39) I72N probably damaging Het
Rhou A G 8: 124,387,715 (GRCm39) E149G probably damaging Het
She A G 3: 89,758,901 (GRCm39) probably benign Het
Slc26a9 A C 1: 131,680,954 (GRCm39) H121P probably benign Het
Spag17 A G 3: 99,979,432 (GRCm39) D1431G probably benign Het
Trpm3 A T 19: 22,965,407 (GRCm39) D1634V probably benign Het
Ttn A G 2: 76,627,571 (GRCm39) probably benign Het
Zc3h14 T A 12: 98,724,849 (GRCm39) D170E possibly damaging Het
Zfp110 C T 7: 12,583,808 (GRCm39) Q819* probably null Het
Zfp616 A G 11: 73,976,644 (GRCm39) N971S probably benign Het
Zfp827 A T 8: 79,844,821 (GRCm39) T664S probably benign Het
Other mutations in Zcrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0894:Zcrb1 UTSW 15 93,295,038 (GRCm39) unclassified probably benign
R2135:Zcrb1 UTSW 15 93,295,067 (GRCm39) missense probably damaging 1.00
R5174:Zcrb1 UTSW 15 93,285,456 (GRCm39) critical splice donor site probably null
R5975:Zcrb1 UTSW 15 93,293,496 (GRCm39) missense probably benign 0.03
R6058:Zcrb1 UTSW 15 93,285,463 (GRCm39) missense probably benign
R7807:Zcrb1 UTSW 15 93,289,002 (GRCm39) missense probably damaging 1.00
R8269:Zcrb1 UTSW 15 93,295,056 (GRCm39) missense probably benign 0.00
R8682:Zcrb1 UTSW 15 93,284,118 (GRCm39) missense probably benign 0.00
R9027:Zcrb1 UTSW 15 93,285,456 (GRCm39) critical splice donor site probably null
U24488:Zcrb1 UTSW 15 93,285,515 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAACTTGGTGATCTCCCGCAG -3'
(R):5'- TCAGACAGGGCTAAGGACCACTAC -3'

Sequencing Primer
(F):5'- GCAGCCCCAGCTTTTGTG -3'
(R):5'- gtcccttccatctccccc -3'
Posted On 2013-11-08