Incidental Mutation 'U24488:Zcrb1'
ID 509901
Institutional Source Beutler Lab
Gene Symbol Zcrb1
Ensembl Gene ENSMUSG00000022635
Gene Name zinc finger CCHC-type and RNA binding motif 1
Synonyms 2700088M22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # U24488 (G0')
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 93283987-93296218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93285515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 155 (S155R)
Ref Sequence ENSEMBL: ENSMUSP00000124549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076070] [ENSMUST00000161409] [ENSMUST00000162160]
AlphaFold Q9CZ96
Predicted Effect probably damaging
Transcript: ENSMUST00000076070
AA Change: S155R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075441
Gene: ENSMUSG00000022635
AA Change: S155R

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: 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: S155R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124549
Gene: ENSMUSG00000022635
AA Change: S155R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,580,772 (GRCm39) Y922C probably damaging Het
Arhgef40 A G 14: 52,235,673 (GRCm39) T1185A probably benign Het
Atf7ip2 A G 16: 10,022,537 (GRCm39) N72S probably damaging Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Ccdc171 A T 4: 83,579,954 (GRCm39) E567V probably damaging Het
Chmp1b T A 18: 67,338,945 (GRCm39) L125Q probably damaging Het
Cnr1 T A 4: 33,944,927 (GRCm39) N438K probably benign Het
Cplane1 G T 15: 8,211,694 (GRCm39) G345C probably damaging Het
Csmd3 G A 15: 47,573,795 (GRCm39) T2091M probably damaging Het
Cyp4a29 A T 4: 115,108,204 (GRCm39) H342L possibly damaging Het
Dnah10 G A 5: 124,891,044 (GRCm39) D3212N probably damaging Het
Dnah2 G A 11: 69,374,648 (GRCm39) T1447I probably damaging Het
F11 A G 8: 45,695,349 (GRCm39) S540P probably benign Het
Fcrl6 T A 1: 172,426,437 (GRCm39) H120L probably damaging Het
Frmd6 T C 12: 70,940,653 (GRCm39) S433P probably damaging Het
Fundc1 G T X: 17,434,342 (GRCm39) A64E probably damaging Het
Garin2 A T 12: 78,761,811 (GRCm39) K158N probably damaging Het
Grid1 A G 14: 35,302,534 (GRCm39) E933G probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hoxb3 C A 11: 96,235,456 (GRCm39) Q128K probably benign Het
Il6st C T 13: 112,631,168 (GRCm39) T369M possibly damaging Het
Itk A C 11: 46,228,971 (GRCm39) M403R probably damaging Het
Katnip A T 7: 125,369,853 (GRCm39) D147V probably damaging Het
Kif2c T C 4: 117,039,639 (GRCm39) Q17R probably benign Het
Kifap3 T C 1: 163,610,604 (GRCm39) I28T possibly damaging Het
Kit A T 5: 75,783,674 (GRCm39) R384* probably null Het
Ksr1 T A 11: 78,938,267 (GRCm39) I42F probably damaging Het
Lhcgr T A 17: 89,079,513 (GRCm39) probably null Het
Lrrc36 C T 8: 106,176,384 (GRCm39) H253Y probably benign Het
Mad1l1 T A 5: 140,300,840 (GRCm39) N19Y probably damaging Het
Marf1 A T 16: 13,950,230 (GRCm39) L1022* probably null Het
Mical3 T G 6: 120,978,457 (GRCm39) Q225P possibly damaging Het
Minar1 C A 9: 89,485,100 (GRCm39) G99V probably damaging Het
Myt1l T A 12: 29,876,895 (GRCm39) M182K unknown Het
Nepro A G 16: 44,554,949 (GRCm39) T342A probably benign Het
Nlrp5 A T 7: 23,117,653 (GRCm39) D459V possibly damaging Het
Nrcam C T 12: 44,584,042 (GRCm39) P39S probably damaging Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Ostm1 A G 10: 42,555,227 (GRCm39) D83G possibly damaging Het
Otoa A T 7: 120,717,763 (GRCm39) probably null Het
Pi4ka A G 16: 17,143,040 (GRCm39) I824T probably damaging Het
Plec C T 15: 76,061,930 (GRCm39) R2534H probably benign Het
Plin2 A G 4: 86,580,314 (GRCm39) V60A probably damaging Het
Rps6ka4 A G 19: 6,809,724 (GRCm39) L367P probably damaging Het
Senp7 A G 16: 56,005,182 (GRCm39) N912D probably damaging Het
Slc25a21 G T 12: 56,785,282 (GRCm39) N198K possibly damaging Het
Slc4a10 A G 2: 61,877,002 (GRCm39) D5G probably benign Het
Tex16 T C X: 111,028,815 (GRCm39) V438A probably benign Het
Tmem37 T C 1: 119,995,684 (GRCm39) Y131C probably benign Het
Top2a A C 11: 98,913,252 (GRCm39) M60R probably damaging Het
Ush2a C T 1: 188,162,963 (GRCm39) T1015I probably damaging Het
Vmn1r172 A T 7: 23,359,171 (GRCm39) I19F probably benign Het
Vmn1r230 A C 17: 21,067,014 (GRCm39) I68L probably benign Het
Vmn2r45 A C 7: 8,475,361 (GRCm39) C556G probably damaging Het
Vmn2r54 A G 7: 12,349,356 (GRCm39) I742T possibly damaging Het
Vps13c A G 9: 67,813,198 (GRCm39) K960E probably benign Het
Wdcp T A 12: 4,900,405 (GRCm39) V87E probably damaging Het
Wiz C T 17: 32,606,649 (GRCm39) E29K probably damaging Het
Wnk3 C T X: 149,992,456 (GRCm39) T298I probably damaging Het
Yif1b A C 7: 28,943,594 (GRCm39) Q56P probably benign Het
Zbtb25 A G 12: 76,396,014 (GRCm39) W403R probably benign Het
Zmym4 A T 4: 126,819,453 (GRCm39) I150K possibly damaging Het
Other mutations in Zcrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0894:Zcrb1 UTSW 15 93,295,038 (GRCm39) unclassified probably benign
R0926:Zcrb1 UTSW 15 93,289,409 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGACTAAGCTGCACACCGTG -3'
(R):5'- TGGACACTTAAGTTATGCCTGTCC -3'

Sequencing Primer
(F):5'- GGCACACCATTTCCTTTCTTCCTG -3'
(R):5'- CTGTCCTAAAAACATGCTTGGCGAG -3'
Posted On 2018-04-02