Incidental Mutation 'R6441:Cimap1a'
ID 519019
Institutional Source Beutler Lab
Gene Symbol Cimap1a
Ensembl Gene ENSMUSG00000025482
Gene Name ciliary microtubule associated protein 1A
Synonyms SHIPPO1, 1700011O04Rik, Odf3
MMRRC Submission 044579-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 140427829-140430838 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140429161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 149 (S149P)
Ref Sequence ENSEMBL: ENSMUSP00000101664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026555] [ENSMUST00000026557] [ENSMUST00000035300] [ENSMUST00000106049] [ENSMUST00000209690]
AlphaFold Q920N1
Predicted Effect probably damaging
Transcript: ENSMUST00000026555
AA Change: S123P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026555
Gene: ENSMUSG00000025482
AA Change: S123P

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 25 59 3.8e-3 PFAM
Pfam:SHIPPO-rpt 65 95 7.8e-2 PFAM
Pfam:SHIPPO-rpt 100 131 1.2e-7 PFAM
Pfam:SHIPPO-rpt 136 170 3.9e-4 PFAM
Pfam:SHIPPO-rpt 179 209 3e-4 PFAM
Pfam:SHIPPO-rpt 215 245 9.6e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026557
SMART Domains Protein: ENSMUSP00000026557
Gene: ENSMUSG00000025484

DomainStartEndE-ValueType
Pfam:SNARE 20 82 3.4e-13 PFAM
transmembrane domain 87 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035300
SMART Domains Protein: ENSMUSP00000048722
Gene: ENSMUSG00000038801

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
UTG 30 91 1.66e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106049
AA Change: S149P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101664
Gene: ENSMUSG00000025482
AA Change: S149P

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 126 157 9.4e-6 PFAM
Pfam:SHIPPO-rpt 162 196 1e-3 PFAM
Pfam:SHIPPO-rpt 241 271 7.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190581
Predicted Effect probably benign
Transcript: ENSMUST00000209690
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,565,108 (GRCm39) M1047K probably benign Het
Apob A T 12: 8,037,796 (GRCm39) D322V probably damaging Het
Capn12 T A 7: 28,587,427 (GRCm39) C438S probably benign Het
Cdh23 A T 10: 60,143,815 (GRCm39) V2932E probably damaging Het
Cdh9 A T 15: 16,823,509 (GRCm39) T164S probably benign Het
CN725425 T C 15: 91,120,005 (GRCm39) V42A probably benign Het
Cpb1 T C 3: 20,303,978 (GRCm39) D362G probably damaging Het
Csmd2 C A 4: 128,288,757 (GRCm39) Q1099K probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Galnt4 A G 10: 98,945,960 (GRCm39) M562V possibly damaging Het
Gtf3c3 T A 1: 54,445,197 (GRCm39) E619V probably benign Het
Gucy2c A T 6: 136,700,759 (GRCm39) M585K probably damaging Het
Hmcn1 A G 1: 150,578,967 (GRCm39) I1993T possibly damaging Het
Lonrf2 T C 1: 38,857,204 (GRCm39) E44G possibly damaging Het
Lrit3 A T 3: 129,594,009 (GRCm39) F189L probably benign Het
Mag T C 7: 30,606,508 (GRCm39) N310D possibly damaging Het
Mccc2 T C 13: 100,091,184 (GRCm39) T151A probably damaging Het
Mybpc1 A T 10: 88,389,139 (GRCm39) S49T probably benign Het
Myh2 A G 11: 67,085,437 (GRCm39) E1787G probably benign Het
Ncapd3 A G 9: 26,974,712 (GRCm39) D728G probably benign Het
Nup37 A G 10: 87,996,799 (GRCm39) E139G probably benign Het
Or52h9 C T 7: 104,202,542 (GRCm39) Q139* probably null Het
Pcdhgb5 A G 18: 37,865,138 (GRCm39) Y311C probably damaging Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Rbm44 A T 1: 91,084,799 (GRCm39) N674Y probably damaging Het
Ryr1 T C 7: 28,759,120 (GRCm39) I3353V possibly damaging Het
Sema3c C T 5: 17,929,130 (GRCm39) T588I possibly damaging Het
Sh2d5 A T 4: 137,986,393 (GRCm39) E372V possibly damaging Het
Slc27a6 C T 18: 58,705,130 (GRCm39) P171S probably benign Het
Slfn3 C T 11: 83,105,740 (GRCm39) T579I probably benign Het
Svil T G 18: 5,049,323 (GRCm39) V287G probably benign Het
Tas1r2 T A 4: 139,396,467 (GRCm39) V602D probably damaging Het
Tln2 A G 9: 67,179,971 (GRCm39) L800P probably damaging Het
Trim31 C A 17: 37,218,683 (GRCm39) Q323K possibly damaging Het
Txndc9 T A 1: 38,029,299 (GRCm39) D183V possibly damaging Het
Vmn2r28 T A 7: 5,491,474 (GRCm39) M258L probably benign Het
Vmn2r75 A T 7: 85,820,784 (GRCm39) I50N probably damaging Het
Zgrf1 A T 3: 127,381,683 (GRCm39) N1161Y possibly damaging Het
Other mutations in Cimap1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0051:Cimap1a UTSW 7 140,430,134 (GRCm39) unclassified probably benign
R0547:Cimap1a UTSW 7 140,428,728 (GRCm39) splice site probably null
R0981:Cimap1a UTSW 7 140,428,208 (GRCm39) missense probably benign 0.00
R1221:Cimap1a UTSW 7 140,428,296 (GRCm39) missense probably damaging 1.00
R2849:Cimap1a UTSW 7 140,429,182 (GRCm39) missense probably benign 0.00
R4833:Cimap1a UTSW 7 140,428,191 (GRCm39) start codon destroyed probably null
R4854:Cimap1a UTSW 7 140,429,375 (GRCm39) missense probably damaging 1.00
R4896:Cimap1a UTSW 7 140,428,398 (GRCm39) intron probably benign
R5109:Cimap1a UTSW 7 140,429,461 (GRCm39) missense probably benign 0.11
R6110:Cimap1a UTSW 7 140,428,554 (GRCm39) missense possibly damaging 0.73
R6354:Cimap1a UTSW 7 140,430,527 (GRCm39) splice site probably null
R6516:Cimap1a UTSW 7 140,428,718 (GRCm39) missense probably damaging 0.99
R6672:Cimap1a UTSW 7 140,428,340 (GRCm39) missense probably benign 0.27
R7086:Cimap1a UTSW 7 140,429,402 (GRCm39) missense probably benign
R7820:Cimap1a UTSW 7 140,429,176 (GRCm39) missense probably benign 0.44
R8069:Cimap1a UTSW 7 140,430,215 (GRCm39) missense probably benign 0.11
R9799:Cimap1a UTSW 7 140,430,706 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTCTAGAAGCCTTGTGTCTTAATTG -3'
(R):5'- CACCACAGGCAGCATGTATG -3'

Sequencing Primer
(F):5'- AATTGTTGGGACACCCTTCCTGG -3'
(R):5'- ATGTATGCAGCAGGGCCTG -3'
Posted On 2018-05-24