Incidental Mutation 'R2135:Zcrb1'
ID 235756
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 040138-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R2135 (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 93295067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 23 (N23S)
Ref Sequence ENSEMBL: ENSMUSP00000075441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049122] [ENSMUST00000068457] [ENSMUST00000076070] [ENSMUST00000109256] [ENSMUST00000161409] [ENSMUST00000162160] [ENSMUST00000229071] [ENSMUST00000165935] [ENSMUST00000230385]
AlphaFold Q9CZ96
Predicted Effect probably benign
Transcript: ENSMUST00000049122
SMART Domains Protein: ENSMUSP00000042762
Gene: ENSMUSG00000036167

DomainStartEndE-ValueType
low complexity region 35 59 N/A INTRINSIC
low complexity region 154 174 N/A INTRINSIC
low complexity region 215 231 N/A INTRINSIC
Pfam:Lge1 275 365 2.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068457
SMART Domains Protein: ENSMUSP00000068165
Gene: ENSMUSG00000036167

DomainStartEndE-ValueType
low complexity region 85 105 N/A INTRINSIC
low complexity region 146 162 N/A INTRINSIC
Pfam:Lge1 179 297 8.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076070
AA Change: N23S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075441
Gene: ENSMUSG00000022635
AA Change: N23S

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 probably benign
Transcript: ENSMUST00000109256
SMART Domains Protein: ENSMUSP00000104879
Gene: ENSMUSG00000036167

DomainStartEndE-ValueType
low complexity region 85 105 N/A INTRINSIC
low complexity region 127 143 N/A INTRINSIC
Pfam:Lge1 160 278 7.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159719
Predicted Effect probably damaging
Transcript: ENSMUST00000161409
AA Change: N23S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125442
Gene: ENSMUSG00000022635
AA Change: N23S

DomainStartEndE-ValueType
Pfam:RRM_1 12 45 8.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162160
AA Change: N23S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124549
Gene: ENSMUSG00000022635
AA Change: N23S

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 probably benign
Transcript: ENSMUST00000229071
Predicted Effect probably benign
Transcript: ENSMUST00000165935
SMART Domains Protein: ENSMUSP00000131121
Gene: ENSMUSG00000036167

DomainStartEndE-ValueType
low complexity region 85 105 N/A INTRINSIC
low complexity region 127 143 N/A INTRINSIC
Pfam:Lge1 160 278 7.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230385
Meta Mutation Damage Score 0.3286 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,509 (GRCm39) H116Q probably benign Het
Adamts16 C A 13: 70,949,126 (GRCm39) L178F probably damaging Het
Adgrv1 A G 13: 81,672,676 (GRCm39) probably null Het
Akap9 A G 5: 4,114,509 (GRCm39) T46A probably damaging Het
Ankrd2 T C 19: 42,032,498 (GRCm39) L253P probably damaging Het
Arap3 T C 18: 38,107,509 (GRCm39) D1336G probably damaging Het
Cacna2d2 C A 9: 107,403,712 (GRCm39) L992I possibly damaging Het
Cdhr2 T A 13: 54,868,760 (GRCm39) I574N probably damaging Het
Cecr2 C T 6: 120,697,923 (GRCm39) T74M probably damaging Het
Ces5a C A 8: 94,226,369 (GRCm39) E481D probably benign Het
Cfap74 C G 4: 155,514,397 (GRCm39) N544K probably damaging Het
Cfap74 T A 4: 155,514,408 (GRCm39) L548Q probably damaging Het
Cfb C T 17: 35,076,254 (GRCm39) V1145I possibly damaging Het
CK137956 A G 4: 127,845,433 (GRCm39) probably benign Het
Commd10 T A 18: 47,123,604 (GRCm39) L153Q possibly damaging Het
Cox6c T C 15: 35,937,429 (GRCm39) probably benign Het
Dock4 A G 12: 40,795,667 (GRCm39) Y828C probably benign Het
Ermp1 T C 19: 29,623,465 (GRCm39) D119G possibly damaging Het
Ext1 G T 15: 52,965,140 (GRCm39) Q409K possibly damaging Het
Fat4 A T 3: 39,034,882 (GRCm39) I2845F probably damaging Het
Frmd6 A G 12: 70,941,771 (GRCm39) N494S probably benign Het
Fscn3 A G 6: 28,431,583 (GRCm39) T305A probably benign Het
Gbx1 G T 5: 24,731,220 (GRCm39) R199S possibly damaging Het
Gm11437 T C 11: 84,044,638 (GRCm39) R192G probably damaging Het
Gucy2c T A 6: 136,700,726 (GRCm39) D572V probably damaging Het
Idh1 A C 1: 65,201,078 (GRCm39) M291R probably damaging Het
Kcnt2 A G 1: 140,356,551 (GRCm39) Y330C probably damaging Het
Kdm4a A G 4: 117,999,656 (GRCm39) L922P probably damaging Het
L3mbtl2 A G 15: 81,566,215 (GRCm39) D346G possibly damaging Het
Lsm14a A G 7: 34,070,609 (GRCm39) S96P probably damaging Het
Ltn1 A G 16: 87,179,601 (GRCm39) L1520P probably damaging Het
Marchf6 A T 15: 31,509,910 (GRCm39) C26* probably null Het
Msra G A 14: 64,360,657 (GRCm39) P228L probably damaging Het
Mycbp2 T C 14: 103,446,329 (GRCm39) Y1800C probably damaging Het
Mycbp2 A T 14: 103,383,378 (GRCm39) D395E probably benign Het
Ncr1 C A 7: 4,343,756 (GRCm39) probably benign Het
Nkd1 T C 8: 89,318,278 (GRCm39) I201T probably benign Het
Nsrp1 A T 11: 76,945,834 (GRCm39) probably benign Het
Or2t48 A C 11: 58,420,611 (GRCm39) I67S probably damaging Het
Or7e177 T A 9: 20,211,593 (GRCm39) D32E probably benign Het
Pate5 A C 9: 35,750,479 (GRCm39) probably null Het
Pkdrej T C 15: 85,700,707 (GRCm39) Y1743C probably damaging Het
Plekha5 T A 6: 140,526,225 (GRCm39) H281Q possibly damaging Het
Ppp2r3d A C 9: 101,088,757 (GRCm39) M522R probably damaging Het
Prdm12 T C 2: 31,530,325 (GRCm39) F72S possibly damaging Het
Prima1 A T 12: 103,168,949 (GRCm39) F106L probably damaging Het
Ptchd4 A G 17: 42,627,965 (GRCm39) H142R probably benign Het
Rasgrf2 G A 13: 92,120,374 (GRCm39) A793V probably benign Het
Rbsn T A 6: 92,166,854 (GRCm39) M597L probably benign Het
Ripk4 A T 16: 97,544,933 (GRCm39) D571E probably damaging Het
Rp9 T C 9: 22,379,425 (GRCm39) K25E possibly damaging Het
Sec31b T C 19: 44,523,135 (GRCm39) S211G probably damaging Het
Shank2 C T 7: 143,964,971 (GRCm39) P1070S probably damaging Het
Sla A G 15: 66,654,563 (GRCm39) V241A probably benign Het
Slc25a40 A G 5: 8,477,489 (GRCm39) T25A possibly damaging Het
Slc3a2 A G 19: 8,685,608 (GRCm39) S164P probably benign Het
Slc7a5 A T 8: 122,610,444 (GRCm39) W457R probably null Het
Slco6c1 A G 1: 97,032,542 (GRCm39) M303T probably benign Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Syne2 A G 12: 75,999,560 (GRCm39) I2318V probably damaging Het
Tecta A C 9: 42,251,581 (GRCm39) C1781G probably damaging Het
Timmdc1 A T 16: 38,319,313 (GRCm39) H280Q probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem30b A G 12: 73,592,107 (GRCm39) L336P probably damaging Het
Tmem94 A G 11: 115,685,575 (GRCm39) I943V probably benign Het
Tshb A G 3: 102,685,464 (GRCm39) probably null Het
Vcpip1 A G 1: 9,818,035 (GRCm39) V116A probably benign Het
Vmn2r76 A G 7: 85,880,219 (GRCm39) Y156H probably benign Het
Zfyve26 T C 12: 79,292,826 (GRCm39) R2108G 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
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'- TGGGGTCTAAATTGTCCAAGC -3'
(R):5'- GAATGGAGCCTGAGGAATTCTACC -3'

Sequencing Primer
(F):5'- CTACAGAGTGAGTTCTAGGCCAGTC -3'
(R):5'- CCCTAATTAAGTCAGTGATGGTCC -3'
Posted On 2014-10-01