Incidental Mutation 'R4246:Ccdc91'
ID 320423
Institutional Source Beutler Lab
Gene Symbol Ccdc91
Ensembl Gene ENSMUSG00000030301
Gene Name coiled-coil domain containing 91
Synonyms p56, 1810060J02Rik, 1700086G08Rik
MMRRC Submission 041062-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R4246 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 147377326-147534110 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 147493646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 346 (A346V)
Ref Sequence ENSEMBL: ENSMUSP00000032441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032441]
AlphaFold Q9D8L5
Predicted Effect unknown
Transcript: ENSMUST00000032441
AA Change: A346V
SMART Domains Protein: ENSMUSP00000032441
Gene: ENSMUSG00000030301
AA Change: A346V

DomainStartEndE-ValueType
coiled coil region 130 207 N/A INTRINSIC
coiled coil region 253 319 N/A INTRINSIC
low complexity region 349 365 N/A INTRINSIC
coiled coil region 376 407 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Ak1 A G 2: 32,523,384 (GRCm39) T151A possibly damaging Het
Asxl3 A G 18: 22,658,557 (GRCm39) D2189G probably damaging Het
Dnah6 C T 6: 73,106,431 (GRCm39) E1769K probably benign Het
Dock6 A T 9: 21,750,786 (GRCm39) probably null Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Glyatl3 T A 17: 41,220,989 (GRCm39) D126V probably benign Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Igkv8-21 T A 6: 70,292,436 (GRCm39) M1L possibly damaging Het
Itih4 C A 14: 30,613,359 (GRCm39) H261N probably damaging Het
Jpt1 T C 11: 115,405,119 (GRCm39) probably benign Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Klhl32 A C 4: 24,800,822 (GRCm39) S3A possibly damaging Het
Kmt2d C T 15: 98,737,970 (GRCm39) probably benign Het
Lamtor5 T C 3: 107,186,354 (GRCm39) V41A probably benign Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Lrfn1 G T 7: 28,159,367 (GRCm39) V429L probably benign Het
Mapkbp1 T A 2: 119,843,508 (GRCm39) I252N probably damaging Het
Nelfa A G 5: 34,056,373 (GRCm39) F464S probably damaging Het
Nipbl G A 15: 8,361,916 (GRCm39) L1454F probably damaging Het
Nr4a3 C T 4: 48,083,125 (GRCm39) P553S possibly damaging Het
Nrg3 G A 14: 39,194,198 (GRCm39) T187I possibly damaging Het
Or5m5 T A 2: 85,814,624 (GRCm39) C147S possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pcdha8 A G 18: 37,125,950 (GRCm39) E144G probably damaging Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pira1 C T 7: 3,740,348 (GRCm39) G291E probably damaging Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Ppp1r3a T A 6: 14,719,780 (GRCm39) E378V probably damaging Het
Psd2 T C 18: 36,139,172 (GRCm39) L540P probably damaging Het
Rnf14 T A 18: 38,434,701 (GRCm39) probably null Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3d19 G A 3: 86,033,995 (GRCm39) V783I probably benign Het
Snca T C 6: 60,710,149 (GRCm39) E110G possibly damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Trhr A T 15: 44,096,856 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Tuft1 C A 3: 94,522,108 (GRCm39) M319I probably benign Het
Vill C A 9: 118,889,461 (GRCm39) N132K probably damaging Het
Wars2 T A 3: 99,123,904 (GRCm39) V255E probably damaging Het
Zcchc14 CTGATGGTGGTGGTGATGGTGGTGG CTGATGGTGGTGG 8: 122,331,031 (GRCm39) probably benign Het
Other mutations in Ccdc91
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Ccdc91 APN 6 147,508,452 (GRCm39) missense unknown
IGL00497:Ccdc91 APN 6 147,508,485 (GRCm39) missense unknown
IGL00795:Ccdc91 APN 6 147,409,305 (GRCm39) missense probably damaging 0.99
R1495:Ccdc91 UTSW 6 147,435,670 (GRCm39) missense possibly damaging 0.66
R1725:Ccdc91 UTSW 6 147,493,541 (GRCm39) missense unknown
R3761:Ccdc91 UTSW 6 147,464,200 (GRCm39) missense unknown
R4591:Ccdc91 UTSW 6 147,491,963 (GRCm39) missense unknown
R4797:Ccdc91 UTSW 6 147,493,641 (GRCm39) missense unknown
R5719:Ccdc91 UTSW 6 147,477,001 (GRCm39) missense unknown
R5721:Ccdc91 UTSW 6 147,477,001 (GRCm39) missense unknown
R6092:Ccdc91 UTSW 6 147,437,114 (GRCm39) missense possibly damaging 0.66
R7156:Ccdc91 UTSW 6 147,435,676 (GRCm39) missense possibly damaging 0.83
R7393:Ccdc91 UTSW 6 147,435,527 (GRCm39) missense possibly damaging 0.92
R7411:Ccdc91 UTSW 6 147,493,696 (GRCm39) nonsense probably null
R7576:Ccdc91 UTSW 6 147,491,957 (GRCm39) missense unknown
R8165:Ccdc91 UTSW 6 147,533,086 (GRCm39) missense unknown
R8311:Ccdc91 UTSW 6 147,437,114 (GRCm39) missense possibly damaging 0.66
R8406:Ccdc91 UTSW 6 147,438,920 (GRCm39) missense possibly damaging 0.66
R8748:Ccdc91 UTSW 6 147,464,194 (GRCm39) missense unknown
R8922:Ccdc91 UTSW 6 147,412,358 (GRCm39) nonsense probably null
R9210:Ccdc91 UTSW 6 147,508,398 (GRCm39) missense unknown
R9212:Ccdc91 UTSW 6 147,508,398 (GRCm39) missense unknown
X0027:Ccdc91 UTSW 6 147,492,137 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AAATGATCGAATGTACTGTGCC -3'
(R):5'- CGTGATGTGAACTGACCCATG -3'

Sequencing Primer
(F):5'- AACTGTGATGTTGGGACTAACC -3'
(R):5'- GTGAACTGACCCATGTACTACAGTG -3'
Posted On 2015-06-12