Incidental Mutation 'IGL00332:Cimip2b'
ID 332289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cimip2b
Ensembl Gene ENSMUSG00000042788
Gene Name ciliary microtubule inner protein 2B
Synonyms Fam166b, 4833436C18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL00332
Quality Score
Status
Chromosome 4
Chromosomal Location 43427019-43429134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43428158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 100 (R100W)
Ref Sequence ENSEMBL: ENSMUSP00000103562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000052829] [ENSMUST00000098106] [ENSMUST00000107928] [ENSMUST00000107929] [ENSMUST00000149676] [ENSMUST00000171134] [ENSMUST00000131668] [ENSMUST00000173682]
AlphaFold A2AIP0
Predicted Effect probably benign
Transcript: ENSMUST00000035645
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
low complexity region 212 230 N/A INTRINSIC
low complexity region 253 265 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
low complexity region 435 448 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 600 617 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
RUN 1109 1177 3.66e-21 SMART
low complexity region 1235 1260 N/A INTRINSIC
low complexity region 1289 1324 N/A INTRINSIC
low complexity region 1330 1341 N/A INTRINSIC
SH3 1457 1512 7.4e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000052829
AA Change: R100W

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788
AA Change: R100W

DomainStartEndE-ValueType
Pfam:DUF2475 15 47 2.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098106
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
low complexity region 212 230 N/A INTRINSIC
low complexity region 253 265 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
low complexity region 435 448 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 600 617 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
RUN 1109 1177 3.66e-21 SMART
low complexity region 1235 1260 N/A INTRINSIC
low complexity region 1289 1324 N/A INTRINSIC
low complexity region 1330 1341 N/A INTRINSIC
SH3 1457 1512 7.4e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107928
AA Change: R100W

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103561
Gene: ENSMUSG00000042788
AA Change: R100W

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 1.3e-20 PFAM
Pfam:DUF2475 212 251 6.9e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107929
AA Change: R100W

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788
AA Change: R100W

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 1.5e-20 PFAM
Pfam:DUF2475 232 271 7.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123447
Predicted Effect unknown
Transcript: ENSMUST00000149676
AA Change: T25M
Predicted Effect probably benign
Transcript: ENSMUST00000171134
AA Change: R100W

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788
AA Change: R100W

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 7.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146710
Predicted Effect probably benign
Transcript: ENSMUST00000131668
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
low complexity region 212 230 N/A INTRINSIC
low complexity region 253 265 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
low complexity region 435 448 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 600 617 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
RUN 1109 1177 3.66e-21 SMART
low complexity region 1235 1260 N/A INTRINSIC
low complexity region 1289 1324 N/A INTRINSIC
low complexity region 1330 1341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173682
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
low complexity region 212 230 N/A INTRINSIC
low complexity region 253 265 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
low complexity region 435 448 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 685 703 N/A INTRINSIC
low complexity region 733 740 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155080
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,083,737 (GRCm39) Y404H possibly damaging Het
Adgrv1 T A 13: 81,620,996 (GRCm39) probably benign Het
Akap13 A G 7: 75,378,667 (GRCm39) K2107E probably damaging Het
Ankrd42 A G 7: 92,233,662 (GRCm39) probably benign Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Aplnr A G 2: 84,967,985 (GRCm39) S337G probably benign Het
Arhgef40 A G 14: 52,226,417 (GRCm39) N154D probably damaging Het
Asb14 A G 14: 26,633,998 (GRCm39) K401R probably benign Het
Aspn C A 13: 49,719,968 (GRCm39) T328K probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Brca2 T A 5: 150,463,363 (GRCm39) H1042Q probably benign Het
C3 A G 17: 57,533,004 (GRCm39) L167P probably benign Het
Ccdc33 A G 9: 57,977,257 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,063 (GRCm39) M222K possibly damaging Het
Cfap45 C T 1: 172,362,912 (GRCm39) probably benign Het
Chil3 T A 3: 106,056,017 (GRCm39) N352I probably damaging Het
Chn2 G T 6: 54,272,907 (GRCm39) probably null Het
Cpt1b T C 15: 89,305,066 (GRCm39) E394G probably benign Het
Fcgr2b T A 1: 170,788,799 (GRCm39) N273I possibly damaging Het
Fpr-rs7 G A 17: 20,333,480 (GRCm39) Q337* probably null Het
Fras1 T A 5: 96,887,217 (GRCm39) N2666K possibly damaging Het
Gfra3 C T 18: 34,824,601 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr75 C T 11: 30,841,590 (GRCm39) T165I probably damaging Het
Gzmd A T 14: 56,367,737 (GRCm39) C179S probably damaging Het
Hand1 T G 11: 57,722,575 (GRCm39) H13P probably damaging Het
Irak3 C T 10: 120,013,972 (GRCm39) probably null Het
Isl2 T A 9: 55,452,253 (GRCm39) L275Q possibly damaging Het
Itgb2 T C 10: 77,393,240 (GRCm39) V367A probably damaging Het
Katna1 T C 10: 7,638,758 (GRCm39) probably benign Het
Myh6 A G 14: 55,184,450 (GRCm39) M1627T probably benign Het
Naprt A G 15: 75,765,164 (GRCm39) Y187H probably damaging Het
Nedd4 T A 9: 72,642,371 (GRCm39) V550E probably damaging Het
Nt5c2 A G 19: 46,884,954 (GRCm39) V252A possibly damaging Het
Or8k39 T C 2: 86,563,579 (GRCm39) I126V possibly damaging Het
Or9i16 C T 19: 13,864,945 (GRCm39) V210I probably benign Het
P2ry2 A G 7: 100,647,393 (GRCm39) V304A probably damaging Het
Pde4dip T C 3: 97,674,593 (GRCm39) N108D probably benign Het
Pdgfrl A G 8: 41,438,660 (GRCm39) T199A probably damaging Het
Plaa A G 4: 94,470,844 (GRCm39) Y431H probably benign Het
Pls1 A T 9: 95,664,472 (GRCm39) I177N possibly damaging Het
Plxna2 T C 1: 194,472,138 (GRCm39) F1035L probably damaging Het
Ppp6r3 A T 19: 3,564,729 (GRCm39) probably null Het
Prpf4b T C 13: 35,067,890 (GRCm39) S240P probably benign Het
Reg2 T A 6: 78,383,204 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,682,965 (GRCm39) T361I probably benign Het
Rps4l A G 6: 148,256,383 (GRCm39) probably benign Het
Scn11a A T 9: 119,598,982 (GRCm39) F1183I probably damaging Het
Sh2b2 T C 5: 136,253,273 (GRCm39) E327G probably damaging Het
Shank2 A G 7: 143,965,584 (GRCm39) K1057R probably damaging Het
Sim2 T A 16: 93,915,803 (GRCm39) Y255* probably null Het
Snx9 A G 17: 5,949,636 (GRCm39) N112S probably benign Het
Sphkap T A 1: 83,258,237 (GRCm39) I169F probably damaging Het
Spink5 A G 18: 44,100,111 (GRCm39) T43A probably benign Het
Stac2 C T 11: 97,932,005 (GRCm39) S265N probably benign Het
Tbx20 A G 9: 24,670,044 (GRCm39) V91A probably damaging Het
Tgfbr2 C T 9: 115,939,257 (GRCm39) R190H probably damaging Het
Ubr2 A G 17: 47,301,916 (GRCm39) probably null Het
Wdfy3 C T 5: 102,063,204 (GRCm39) probably null Het
Wdr82 T C 9: 106,061,449 (GRCm39) V166A probably benign Het
Zfhx4 C T 3: 5,307,401 (GRCm39) A209V probably damaging Het
Zfp518b T A 5: 38,831,109 (GRCm39) T299S possibly damaging Het
Other mutations in Cimip2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Cimip2b APN 4 43,428,158 (GRCm39) missense possibly damaging 0.49
IGL00330:Cimip2b APN 4 43,428,158 (GRCm39) missense possibly damaging 0.49
IGL00331:Cimip2b APN 4 43,428,158 (GRCm39) missense possibly damaging 0.49
IGL00335:Cimip2b APN 4 43,428,158 (GRCm39) missense possibly damaging 0.49
IGL00971:Cimip2b APN 4 43,428,377 (GRCm39) missense probably damaging 0.98
IGL01619:Cimip2b APN 4 43,427,814 (GRCm39) missense possibly damaging 0.60
FR4340:Cimip2b UTSW 4 43,427,384 (GRCm39) frame shift probably null
FR4342:Cimip2b UTSW 4 43,427,384 (GRCm39) frame shift probably null
R0589:Cimip2b UTSW 4 43,427,355 (GRCm39) unclassified probably benign
R1125:Cimip2b UTSW 4 43,427,550 (GRCm39) missense probably damaging 0.99
R1937:Cimip2b UTSW 4 43,427,586 (GRCm39) missense probably damaging 0.96
R4599:Cimip2b UTSW 4 43,427,574 (GRCm39) missense possibly damaging 0.90
R4937:Cimip2b UTSW 4 43,427,514 (GRCm39) missense possibly damaging 0.72
R5337:Cimip2b UTSW 4 43,427,687 (GRCm39) splice site probably null
R7345:Cimip2b UTSW 4 43,428,022 (GRCm39) missense possibly damaging 0.92
R7653:Cimip2b UTSW 4 43,427,273 (GRCm39) critical splice acceptor site probably null
R8418:Cimip2b UTSW 4 43,427,204 (GRCm39) missense unknown
R9594:Cimip2b UTSW 4 43,427,329 (GRCm39) missense unknown
R9665:Cimip2b UTSW 4 43,427,554 (GRCm39) nonsense probably null
Z1176:Cimip2b UTSW 4 43,427,172 (GRCm39) missense
Z1176:Cimip2b UTSW 4 43,427,171 (GRCm39) missense
Posted On 2015-08-05