Incidental Mutation 'R7820:Cimap1a'
ID 601820
Institutional Source Beutler Lab
Gene Symbol Cimap1a
Ensembl Gene ENSMUSG00000025482
Gene Name ciliary microtubule associated protein 1A
Synonyms SHIPPO1, 1700011O04Rik, Odf3
MMRRC Submission 045874-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R7820 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140427829-140430838 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 140429176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 128 (T128P)
Ref Sequence ENSEMBL: ENSMUSP00000026555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026555] [ENSMUST00000026557] [ENSMUST00000035300] [ENSMUST00000106049] [ENSMUST00000209690]
AlphaFold Q920N1
Predicted Effect probably benign
Transcript: ENSMUST00000026555
AA Change: T128P

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026555
Gene: ENSMUSG00000025482
AA Change: T128P

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: T154P

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101664
Gene: ENSMUSG00000025482
AA Change: T154P

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: ENSMUST00000209690
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik T A 7: 50,249,371 (GRCm39) I135N probably benign Het
Abca14 A T 7: 119,811,944 (GRCm39) N175I probably benign Het
Adam12 A G 7: 133,599,917 (GRCm39) V99A probably benign Het
Ankfn1 G T 11: 89,311,956 (GRCm39) P730T probably damaging Het
Arhgap21 A G 2: 20,867,983 (GRCm39) S847P probably damaging Het
Cacna1i C T 15: 80,256,573 (GRCm39) A989V probably benign Het
Cacnb2 T A 2: 14,965,477 (GRCm39) N152K probably damaging Het
Cemip2 C T 19: 21,784,825 (GRCm39) A436V probably damaging Het
Chd3 A T 11: 69,244,064 (GRCm39) Y1334N probably damaging Het
Clca4a A T 3: 144,666,432 (GRCm39) D473E probably damaging Het
Crhr2 A C 6: 55,079,764 (GRCm39) I191S probably damaging Het
Eef1akmt3 T C 10: 126,869,063 (GRCm39) Q137R possibly damaging Het
Eml1 T C 12: 108,481,433 (GRCm39) I432T possibly damaging Het
Fcgbp A G 7: 27,819,784 (GRCm39) T2504A probably benign Het
Hmgxb4 G T 8: 75,727,574 (GRCm39) E186* probably null Het
Ighv16-1 T C 12: 114,032,589 (GRCm39) N71S probably benign Het
Kif2b A G 11: 91,468,100 (GRCm39) V61A probably benign Het
Map1b C T 13: 99,567,685 (GRCm39) G1679R unknown Het
Mast4 G A 13: 102,890,596 (GRCm39) S1086L probably damaging Het
Mcm8 A G 2: 132,682,692 (GRCm39) E724G possibly damaging Het
Mfap5 C A 6: 122,497,880 (GRCm39) D51E probably damaging Het
Mon1a T C 9: 107,778,511 (GRCm39) L245P probably damaging Het
Mtx1 G T 3: 89,121,315 (GRCm39) H106Q probably benign Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Ngp A G 9: 110,249,932 (GRCm39) T77A probably benign Het
Oca2 A T 7: 55,981,713 (GRCm39) I612F probably damaging Het
Or11a4 A T 17: 37,536,786 (GRCm39) M257L probably benign Het
Or4c119 T A 2: 88,986,592 (GRCm39) D309V probably benign Het
Or8b3 A T 9: 38,314,862 (GRCm39) I228F probably damaging Het
Otop3 T A 11: 115,230,414 (GRCm39) V97D probably damaging Het
Ovgp1 A G 3: 105,893,837 (GRCm39) probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plekha7 A T 7: 115,836,715 (GRCm39) F18I probably benign Het
Plppr4 A G 3: 117,115,598 (GRCm39) I753T possibly damaging Het
Pms2 T G 5: 143,851,451 (GRCm39) S123A possibly damaging Het
Pou4f2 T A 8: 79,163,131 (GRCm39) probably benign Het
Ptch1 A T 13: 63,670,875 (GRCm39) L885Q probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rgs11 T A 17: 26,424,169 (GRCm39) probably null Het
Samd3 T A 10: 26,109,416 (GRCm39) probably null Het
Slit3 A G 11: 35,591,235 (GRCm39) D1349G probably benign Het
Sorbs2 A T 8: 46,249,593 (GRCm39) Q868L probably null Het
Speer4f1 T A 5: 17,684,528 (GRCm39) S185R probably damaging Het
Spin2f A G X: 30,905,635 (GRCm39) K28R probably benign Het
Tas2r125 T G 6: 132,886,841 (GRCm39) I76M probably benign Het
Tex15 A T 8: 34,065,090 (GRCm39) I1507F probably damaging Het
Vmn1r215 A T 13: 23,260,715 (GRCm39) I252F probably damaging Het
Vmn1r71 A G 7: 10,482,652 (GRCm39) F12S possibly damaging Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zfp764l1 A T 7: 126,990,608 (GRCm39) W460R 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
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
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'- TCAATGTTGGGGTCTAGAAGC -3'
(R):5'- ACCACAGGCAGCATGTATG -3'

Sequencing Primer
(F):5'- CCTTGTGTCTTAATTGTTGGGACACC -3'
(R):5'- ATGTATGCAGCAGGGCCTG -3'
Posted On 2019-12-03