Incidental Mutation 'IGL00971:Cimip2b'
ID 27330
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 # IGL00971
Quality Score
Status
Chromosome 4
Chromosomal Location 43427019-43429134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43428377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 51 (L51P)
Ref Sequence ENSEMBL: ENSMUSP00000103562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000052829] [ENSMUST00000098106] [ENSMUST00000107928] [ENSMUST00000107929] [ENSMUST00000171134] [ENSMUST00000149676] [ENSMUST00000173682] [ENSMUST00000131668]
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 probably damaging
Transcript: ENSMUST00000052829
AA Change: L51P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788
AA Change: L51P

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 probably damaging
Transcript: ENSMUST00000107928
AA Change: L51P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103561
Gene: ENSMUSG00000042788
AA Change: L51P

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 1.3e-20 PFAM
Pfam:DUF2475 212 251 6.9e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107929
AA Change: L51P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788
AA Change: L51P

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 possibly damaging
Transcript: ENSMUST00000171134
AA Change: L51P

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788
AA Change: L51P

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 7.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154754
Predicted Effect probably benign
Transcript: ENSMUST00000149676
Predicted Effect probably benign
Transcript: ENSMUST00000155080
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: 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik C T 14: 35,532,170 (GRCm39) C135Y possibly damaging Het
Afdn T A 17: 14,072,575 (GRCm39) probably benign Het
Akap10 A G 11: 61,795,622 (GRCm39) V347A possibly damaging Het
Ankrd11 A G 8: 123,622,092 (GRCm39) S587P probably damaging Het
Ces1g T C 8: 94,029,660 (GRCm39) Y524C probably damaging Het
Cubn T C 2: 13,283,219 (GRCm39) N3573S possibly damaging Het
Cyp1a1 G T 9: 57,607,990 (GRCm39) C206F probably damaging Het
Fbxo30 T C 10: 11,166,042 (GRCm39) Y255H probably benign Het
Ggnbp2 T C 11: 84,731,230 (GRCm39) I295V possibly damaging Het
Gpatch8 A G 11: 102,370,743 (GRCm39) Y932H unknown Het
Gvin-ps3 G A 7: 105,681,008 (GRCm39) noncoding transcript Het
Heatr6 C T 11: 83,650,135 (GRCm39) P197L probably damaging Het
Helb T C 10: 119,930,168 (GRCm39) D737G possibly damaging Het
Helz A T 11: 107,554,479 (GRCm39) I1226F possibly damaging Het
Ipo11 A T 13: 106,993,277 (GRCm39) I749N probably damaging Het
Ipo13 T C 4: 117,771,564 (GRCm39) E2G possibly damaging Het
Jam3 A C 9: 27,013,188 (GRCm39) D127E probably damaging Het
Kif16b G T 2: 142,553,664 (GRCm39) Q1045K probably benign Het
Kin T C 2: 10,095,159 (GRCm39) W121R possibly damaging Het
Man1b1 T G 2: 25,233,337 (GRCm39) S237A possibly damaging Het
Mmel1 C T 4: 154,972,289 (GRCm39) probably benign Het
Morn4 T C 19: 42,064,559 (GRCm39) N143S possibly damaging Het
Nlrp4b A G 7: 10,448,882 (GRCm39) T362A possibly damaging Het
Ntpcr C T 8: 126,474,501 (GRCm39) T153M probably damaging Het
Or13p10 T A 4: 118,523,475 (GRCm39) F254I probably damaging Het
Pdzd2 A G 15: 12,374,804 (GRCm39) L1777P probably benign Het
Postn A G 3: 54,276,697 (GRCm39) N192S possibly damaging Het
Prkar1a A T 11: 109,551,877 (GRCm39) Y122F probably benign Het
Serpinb7 A G 1: 107,355,976 (GRCm39) probably benign Het
Setd3 A T 12: 108,126,496 (GRCm39) I121N probably damaging Het
Slamf7 T A 1: 171,466,810 (GRCm39) I132L probably benign Het
Syt4 T C 18: 31,580,227 (GRCm39) probably benign Het
Tesc G A 5: 118,194,504 (GRCm39) probably null Het
Tsc1 C A 2: 28,560,952 (GRCm39) S270* probably null Het
Wap C A 11: 6,586,808 (GRCm39) C97F probably damaging Het
Zfp451 A G 1: 33,822,234 (GRCm39) S155P probably benign Het
Zfp469 A G 8: 122,996,472 (GRCm39) probably benign Het
Zfp51 C T 17: 21,683,844 (GRCm39) T153M probably benign Het
Zfp579 A G 7: 4,996,390 (GRCm39) I507T probably 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
IGL00332: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
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 2013-04-17