Incidental Mutation 'R8319:Ccdc109b'
ID641844
Institutional Source Beutler Lab
Gene Symbol Ccdc109b
Ensembl Gene ENSMUSG00000027994
Gene Namecoiled-coil domain containing 109B
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #R8319 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location129914960-129970206 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129933679 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 93 (F93L)
Ref Sequence ENSEMBL: ENSMUSP00000029624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029624] [ENSMUST00000122961] [ENSMUST00000153506]
Predicted Effect probably damaging
Transcript: ENSMUST00000029624
AA Change: F93L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994
AA Change: F93L

DomainStartEndE-ValueType
Pfam:MCU 109 314 4.4e-68 PFAM
low complexity region 323 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122961
Predicted Effect probably benign
Transcript: ENSMUST00000146340
SMART Domains Protein: ENSMUSP00000115224
Gene: ENSMUSG00000027994

DomainStartEndE-ValueType
Pfam:MCU 34 149 2.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153506
AA Change: F93L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118170
Gene: ENSMUSG00000027994
AA Change: F93L

DomainStartEndE-ValueType
low complexity region 178 202 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,690,672 D115E probably benign Het
Abcc1 T A 16: 14,396,451 L197Q probably damaging Het
Adamts14 T G 10: 61,221,927 N547T probably benign Het
Ampd3 T A 7: 110,795,775 S301R probably benign Het
Atg9a G A 1: 75,185,698 Q523* probably null Het
Atl1 A T 12: 69,955,319 T351S probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 probably null Het
Cacna1c T C 6: 118,637,774 I1315V Het
Col12a1 C T 9: 79,648,697 G2013R probably damaging Het
Cpne2 A G 8: 94,553,412 D153G probably benign Het
Cryzl1 T C 16: 91,692,363 S205G probably benign Het
Cux1 C T 5: 136,565,397 A5T probably benign Het
Ddx60 T C 8: 61,942,635 probably null Het
Dnajc13 G A 9: 104,190,391 P1190S probably benign Het
Fbxw7 T A 3: 84,974,552 V526E Het
Fig4 C A 10: 41,263,101 G369C probably damaging Het
Gabra1 C T 11: 42,135,488 A326T probably damaging Het
Gbe1 G A 16: 70,488,076 G429S probably benign Het
Gm340 T A 19: 41,582,904 S179T probably damaging Het
Gtf3c5 A T 2: 28,570,494 H364Q probably benign Het
Hcfc2 T A 10: 82,738,367 I125N probably damaging Het
Hnrnpul1 A T 7: 25,754,477 D53E probably benign Het
Il18 A T 9: 50,581,518 D128V possibly damaging Het
Intu T A 3: 40,653,772 S71R probably damaging Het
Klhl6 T C 16: 19,957,190 E206G possibly damaging Het
Mdga2 T C 12: 67,221,029 Y5C unknown Het
Naip1 C A 13: 100,429,213 V354L probably benign Het
Naip5 A G 13: 100,221,659 V1023A probably benign Het
Ndufaf1 A G 2: 119,660,087 L166P probably damaging Het
Ninl A T 2: 150,959,907 L147H probably damaging Het
Olfr1259 A G 2: 89,943,680 V145A possibly damaging Het
Olfr64 A G 7: 103,893,429 I102T probably damaging Het
Otogl C T 10: 107,853,266 probably null Het
Otulin AT ATT 15: 27,606,318 probably null Het
Phf11b A C 14: 59,338,697 L30R probably damaging Het
Prdm13 G T 4: 21,679,327 H388N unknown Het
Pwwp2b T C 7: 139,255,183 V180A probably damaging Het
Reep4 T A 14: 70,546,511 S23T probably damaging Het
Rusc2 T A 4: 43,425,378 L1161Q probably damaging Het
Scgb1b3 G A 7: 31,375,979 probably null Het
Scn10a G T 9: 119,670,389 N279K probably benign Het
Smurf2 A G 11: 106,824,752 L643S probably damaging Het
Sox12 G A 2: 152,397,272 P143S unknown Het
Specc1 C T 11: 62,118,675 T339I possibly damaging Het
Tas2r139 T C 6: 42,141,786 V284A probably benign Het
Thumpd3 T A 6: 113,063,146 C330* probably null Het
Ttc26 T A 6: 38,405,945 H338Q probably damaging Het
Ttn A G 2: 76,706,954 S34877P possibly damaging Het
Zfp568 T C 7: 29,998,204 S104P possibly damaging Het
Zfp933 G A 4: 147,828,453 H50Y possibly damaging Het
Other mutations in Ccdc109b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0006:Ccdc109b UTSW 3 129933765 splice site probably benign
R0632:Ccdc109b UTSW 3 129918726 missense probably benign 0.00
R1471:Ccdc109b UTSW 3 129915815 missense probably damaging 1.00
R1740:Ccdc109b UTSW 3 129918727 missense probably benign 0.12
R1894:Ccdc109b UTSW 3 129934663 missense probably benign 0.41
R2104:Ccdc109b UTSW 3 129918688 missense probably benign 0.12
R4556:Ccdc109b UTSW 3 129915735 nonsense probably null
R4777:Ccdc109b UTSW 3 129969951 missense probably damaging 0.97
R4871:Ccdc109b UTSW 3 129917036 nonsense probably null
R5213:Ccdc109b UTSW 3 129916997 missense probably benign 0.01
R5587:Ccdc109b UTSW 3 129916970 missense probably benign 0.01
R5605:Ccdc109b UTSW 3 129917009 missense probably damaging 1.00
R5740:Ccdc109b UTSW 3 129918725 missense probably benign 0.01
R6031:Ccdc109b UTSW 3 129926389 missense probably damaging 1.00
R6031:Ccdc109b UTSW 3 129926389 missense probably damaging 1.00
R8246:Ccdc109b UTSW 3 129915165 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTCTGCATGGGTAGCCATTG -3'
(R):5'- GATCAATAAAACACATTACTGCACTT -3'

Sequencing Primer
(F):5'- CTCTGCATGGGTAGCCATTGATTAC -3'
(R):5'- TTGGATTCCCTGGAAACACG -3'
Posted On2020-07-28