Incidental Mutation 'R8069:Cimap1a'
ID 620169
Institutional Source Beutler Lab
Gene Symbol Cimap1a
Ensembl Gene ENSMUSG00000025482
Gene Name ciliary microtubule associated protein 1A
Synonyms SHIPPO1, 1700011O04Rik, Odf3
MMRRC Submission 067504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8069 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 140427829-140430838 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140430215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 201 (T201S)
Ref Sequence ENSEMBL: ENSMUSP00000026555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026555] [ENSMUST00000026557] [ENSMUST00000035300] [ENSMUST00000106049] [ENSMUST00000209320] [ENSMUST00000209690] [ENSMUST00000210710] [ENSMUST00000211527] [ENSMUST00000211590] [ENSMUST00000211624]
AlphaFold Q920N1
Predicted Effect probably benign
Transcript: ENSMUST00000026555
AA Change: T201S

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026555
Gene: ENSMUSG00000025482
AA Change: T201S

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 benign
Transcript: ENSMUST00000106049
AA Change: T227S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101664
Gene: ENSMUSG00000025482
AA Change: T227S

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 probably benign
Transcript: ENSMUST00000209320
Predicted Effect probably benign
Transcript: ENSMUST00000209690
Predicted Effect probably benign
Transcript: ENSMUST00000210710
Predicted Effect probably benign
Transcript: ENSMUST00000211527
Predicted Effect probably benign
Transcript: ENSMUST00000211590
Predicted Effect probably benign
Transcript: ENSMUST00000211624
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt T A 9: 4,296,823 (GRCm39) D261V probably benign Het
Abca8a T C 11: 109,980,876 (GRCm39) Y54C probably damaging Het
Adad2 T C 8: 120,342,746 (GRCm39) S431P probably benign Het
Adam18 A G 8: 25,118,246 (GRCm39) Y557H possibly damaging Het
Adam5 C T 8: 25,303,541 (GRCm39) E129K probably damaging Het
Adgra2 T C 8: 27,609,251 (GRCm39) V824A probably benign Het
Armc12 A T 17: 28,751,410 (GRCm39) K135* probably null Het
Aup1 C T 6: 83,032,910 (GRCm39) Q215* probably null Het
AW146154 G A 7: 41,129,935 (GRCm39) R394C probably benign Het
Canx T G 11: 50,202,531 (GRCm39) D25A possibly damaging Het
Ccnf A G 17: 24,443,989 (GRCm39) L593P probably damaging Het
Cd40 A T 2: 164,898,695 (GRCm39) I41F unknown Het
Cdh1 C T 8: 107,384,405 (GRCm39) A291V probably benign Het
Cdhr2 A T 13: 54,878,883 (GRCm39) I963F probably damaging Het
Cenpe G A 3: 134,949,479 (GRCm39) G88D probably damaging Het
Cep295 T A 9: 15,233,882 (GRCm39) T2305S possibly damaging Het
Clcn4 T C 7: 7,299,758 (GRCm39) R24G probably damaging Het
Cnot7 T C 8: 40,960,514 (GRCm39) N98S possibly damaging Het
Defa3 T G 8: 21,778,288 (GRCm39) C91G probably damaging Het
Dennd2c T C 3: 103,072,446 (GRCm39) F844L probably damaging Het
Dido1 T C 2: 180,302,705 (GRCm39) D1733G probably benign Het
Dnah7b G A 1: 46,263,866 (GRCm39) W2116* probably null Het
Dnaja3 T C 16: 4,502,131 (GRCm39) V45A probably benign Het
Efcab7 T A 4: 99,717,615 (GRCm39) S11T unknown Het
Enpp2 T A 15: 54,710,697 (GRCm39) K744N probably damaging Het
Fam171b CCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGC 2: 83,643,218 (GRCm39) probably benign Het
Fdxacb1 T G 9: 50,680,135 (GRCm39) F107C probably damaging Het
Fnbp1 A T 2: 30,926,606 (GRCm39) Y433N probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm15446 T A 5: 110,088,306 (GRCm39) Y6* probably null Het
Gm45140 T C 6: 87,796,551 (GRCm39) H66R Het
Grin3b G A 10: 79,812,868 (GRCm39) R981Q unknown Het
Ipp T G 4: 116,368,053 (GRCm39) I95M probably benign Het
Iqca1 A G 1: 89,973,466 (GRCm39) F769L probably damaging Het
Jkamp C T 12: 72,136,832 (GRCm39) L67F probably damaging Het
Llgl2 T A 11: 115,744,112 (GRCm39) M773K probably damaging Het
Man2b1 A G 8: 85,823,674 (GRCm39) T973A probably benign Het
Mcm2 T C 6: 88,869,039 (GRCm39) Y271C probably damaging Het
Msl2 T C 9: 100,978,159 (GRCm39) S178P probably benign Het
Myo7a G T 7: 97,732,833 (GRCm39) S648* probably null Het
Neurl1b G T 17: 26,651,201 (GRCm39) V158F probably damaging Het
Nkain2 A G 10: 32,766,034 (GRCm39) V142A unknown Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Oma1 A T 4: 103,176,232 (GRCm39) probably benign Het
Or10ag58 A T 2: 87,265,364 (GRCm39) N178Y possibly damaging Het
Or5aq7 A G 2: 86,938,411 (GRCm39) Y107H probably damaging Het
Plekhg6 T C 6: 125,340,009 (GRCm39) T784A probably benign Het
Prtg T C 9: 72,752,265 (GRCm39) I217T probably benign Het
Ptx4 T C 17: 25,341,753 (GRCm39) F76S probably damaging Het
Rap1b A C 10: 117,657,514 (GRCm39) I55S probably damaging Het
Sftpd T C 14: 40,894,538 (GRCm39) T294A probably benign Het
Spg11 C T 2: 121,943,637 (GRCm39) V172I probably benign Het
Srms T A 2: 180,848,751 (GRCm39) H363L probably damaging Het
Tbc1d13 A T 2: 30,037,415 (GRCm39) M266L probably damaging Het
Tbc1d2 A C 4: 46,649,737 (GRCm39) C100G possibly damaging Het
Tdg A T 10: 82,474,627 (GRCm39) Q39L probably benign Het
Tiam1 G A 16: 89,586,146 (GRCm39) A1547V probably benign Het
Trpm1 A G 7: 63,858,718 (GRCm39) E380G possibly damaging Het
Unc13b T G 4: 43,177,597 (GRCm39) D2808E unknown Het
Usp25 A T 16: 76,865,943 (GRCm39) D287V possibly damaging Het
Zfp648 A T 1: 154,079,862 (GRCm39) Q7L probably benign Het
Zfp931 T C 2: 177,709,709 (GRCm39) R226G probably benign Het
Zfyve9 T A 4: 108,542,215 (GRCm39) E201D probably benign 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
R6441:Cimap1a UTSW 7 140,429,161 (GRCm39) missense probably damaging 1.00
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
R9799:Cimap1a UTSW 7 140,430,706 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTAAGGCCTCTGGGGAATC -3'
(R):5'- GAAAGGTTGCCATCAGAGTCAC -3'

Sequencing Primer
(F):5'- GCCTCTGGGGAATCAAGGTC -3'
(R):5'- ACACATTCCTGAGGGTGCATC -3'
Posted On 2020-01-23