Incidental Mutation 'R8958:Ccdc187'
ID 682139
Institutional Source Beutler Lab
Gene Symbol Ccdc187
Ensembl Gene ENSMUSG00000048038
Gene Name coiled-coil domain containing 187
Synonyms 4932418E24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock # R8958 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 26243469-26294557 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 26275565 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 860 (S860A)
Ref Sequence ENSEMBL: ENSMUSP00000054283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057224] [ENSMUST00000217256] [ENSMUST00000227200]
AlphaFold Q8C5V8
Predicted Effect probably benign
Transcript: ENSMUST00000057224
AA Change: S860A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: S860A

DomainStartEndE-ValueType
low complexity region 116 132 N/A INTRINSIC
low complexity region 536 557 N/A INTRINSIC
coiled coil region 605 632 N/A INTRINSIC
coiled coil region 717 745 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000217256
AA Change: S860A
Predicted Effect unknown
Transcript: ENSMUST00000227200
AA Change: S899A
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A T 12: 21,349,933 N157K possibly damaging Het
Adck2 T C 6: 39,583,914 V412A probably benign Het
Adgrb3 C T 1: 25,826,109 V11I possibly damaging Het
Arhgef17 T C 7: 100,929,812 D643G probably damaging Het
Arvcf A G 16: 18,402,626 Q597R probably damaging Het
Brdt T C 5: 107,378,011 V910A probably benign Het
Cachd1 A G 4: 100,994,086 D1167G probably benign Het
Ccdc28a T C 10: 18,214,178 I113M probably benign Het
Cdc5l T C 17: 45,393,201 N699S probably benign Het
Cenpf A T 1: 189,653,153 I2310K possibly damaging Het
Ch25h A T 19: 34,475,014 I38N probably benign Het
Chrdl2 C A 7: 100,020,922 P84Q probably damaging Het
Cltc A T 11: 86,695,577 Y1673N possibly damaging Het
Cr1l C G 1: 195,129,935 G27R probably damaging Het
Crebbp G A 16: 4,213,308 probably benign Het
Dync1h1 G A 12: 110,620,371 E929K probably benign Het
E2f7 C A 10: 110,765,754 P324Q probably damaging Het
Eif3b A G 5: 140,425,439 D215G probably benign Het
Ephb1 A G 9: 102,195,415 I55T probably damaging Het
Fam126a A G 5: 23,964,936 C472R probably benign Het
Fbxw14 A T 9: 109,278,742 L188Q probably damaging Het
Foxg1 T C 12: 49,385,161 S226P probably damaging Het
Gbe1 T C 16: 70,478,322 F337L probably damaging Het
Glg1 A T 8: 111,172,484 C716* probably null Het
Gm35339 A T 15: 76,361,494 E1310D Het
Gp1ba C G 11: 70,640,904 probably benign Het
Grm7 C T 6: 111,495,822 S36L probably damaging Het
H2-M5 T A 17: 36,988,628 I167F probably damaging Het
Hist1h3e T C 13: 23,562,247 H40R possibly damaging Het
Il18rap C T 1: 40,543,017 T366M probably benign Het
Ino80 C T 2: 119,383,381 R1236H probably damaging Het
Ism1 T A 2: 139,732,075 I115N possibly damaging Het
Kdm4a A G 4: 118,142,376 S950P probably benign Het
Lama5 T C 2: 180,193,799 T1254A probably benign Het
Lipo2 T A 19: 33,720,961 K339* probably null Het
Lrrc7 T C 3: 158,240,501 K187R probably benign Het
Mkrn2os G C 6: 115,585,356 S215R probably benign Het
Myzap G T 9: 71,550,203 D303E possibly damaging Het
Naa11 T C 5: 97,392,225 N25D probably damaging Het
Naip5 T A 13: 100,217,609 K1149* probably null Het
Obscn C T 11: 59,073,332 V3083M probably damaging Het
Olfr1298 T C 2: 111,645,725 T91A possibly damaging Het
Olfr959 T C 9: 39,572,795 T155A probably benign Het
Parn T A 16: 13,648,458 E241D possibly damaging Het
Pax1 T A 2: 147,368,597 probably null Het
Pclo A T 5: 14,675,355 E1409V unknown Het
Pclo A G 5: 14,713,042 Y3843C unknown Het
Ppp2r3a A T 9: 101,211,435 M563K probably benign Het
Prdm1 T G 10: 44,440,733 K623Q probably damaging Het
Ptpn13 T C 5: 103,551,107 V1152A probably benign Het
Ptx3 G A 3: 66,220,970 A151T probably benign Het
Rab11fip1 T C 8: 27,154,912 S282G possibly damaging Het
Ros1 G T 10: 52,096,094 N1641K probably damaging Het
Syne1 T C 10: 5,231,768 K4189R probably benign Het
Tcf3 T C 10: 80,410,257 K611E probably damaging Het
Tmem215 A G 4: 40,474,376 Q151R probably benign Het
Trappc8 T C 18: 20,870,610 I254V probably benign Het
Trim46 T C 3: 89,236,453 D556G probably damaging Het
Zfp513 C A 5: 31,199,481 R487L probably damaging Het
Zmpste24 C A 4: 121,087,311 E97* probably null Het
Other mutations in Ccdc187
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Ccdc187 APN 2 26280948 missense probably benign
IGL02989:Ccdc187 APN 2 26276431 missense possibly damaging 0.92
IGL03017:Ccdc187 APN 2 26280966 missense probably benign
IGL03059:Ccdc187 APN 2 26294241 missense probably null 1.00
IGL03117:Ccdc187 APN 2 26287968 missense possibly damaging 0.95
R0026:Ccdc187 UTSW 2 26281353 missense probably benign 0.00
R0144:Ccdc187 UTSW 2 26276203 missense probably damaging 0.98
R1078:Ccdc187 UTSW 2 26294377 missense probably damaging 0.98
R1226:Ccdc187 UTSW 2 26276121 missense probably damaging 0.99
R1624:Ccdc187 UTSW 2 26281075 missense probably benign
R1733:Ccdc187 UTSW 2 26293658 missense possibly damaging 0.93
R1851:Ccdc187 UTSW 2 26276068 missense probably benign 0.17
R2304:Ccdc187 UTSW 2 26281017 missense possibly damaging 0.94
R4278:Ccdc187 UTSW 2 26282227 intron probably benign
R4344:Ccdc187 UTSW 2 26280669 missense probably damaging 1.00
R5151:Ccdc187 UTSW 2 26293439 missense probably damaging 1.00
R5416:Ccdc187 UTSW 2 26276092 missense possibly damaging 0.87
R5537:Ccdc187 UTSW 2 26276225 missense probably benign 0.32
R5761:Ccdc187 UTSW 2 26276092 missense possibly damaging 0.87
R5762:Ccdc187 UTSW 2 26276092 missense possibly damaging 0.87
R5865:Ccdc187 UTSW 2 26293368 missense probably benign 0.00
R5925:Ccdc187 UTSW 2 26293581 missense probably benign
R6261:Ccdc187 UTSW 2 26276203 missense probably damaging 0.98
R6803:Ccdc187 UTSW 2 26289779 missense probably benign 0.02
R6888:Ccdc187 UTSW 2 26289734 missense probably damaging 0.98
R6958:Ccdc187 UTSW 2 26289719 missense probably benign
R7006:Ccdc187 UTSW 2 26281090 missense probably benign 0.05
R7358:Ccdc187 UTSW 2 26255995 missense probably damaging 0.97
R7818:Ccdc187 UTSW 2 26276174 missense possibly damaging 0.61
R8048:Ccdc187 UTSW 2 26293514 missense possibly damaging 0.53
R8327:Ccdc187 UTSW 2 26280618 missense probably benign 0.01
R8353:Ccdc187 UTSW 2 26276446 missense probably damaging 0.99
R8425:Ccdc187 UTSW 2 26281536 missense probably damaging 0.99
R8453:Ccdc187 UTSW 2 26276446 missense probably damaging 0.99
R8461:Ccdc187 UTSW 2 26293802 missense probably damaging 0.99
R8534:Ccdc187 UTSW 2 26275565 missense possibly damaging 0.61
R8694:Ccdc187 UTSW 2 26275493 missense probably benign 0.02
R8745:Ccdc187 UTSW 2 26280514 missense probably damaging 0.99
R8972:Ccdc187 UTSW 2 26281067 missense probably benign
R9214:Ccdc187 UTSW 2 26293397 missense probably benign 0.19
Z1176:Ccdc187 UTSW 2 26281507 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTTCATCCGACCTGATGCAC -3'
(R):5'- CACAGGCCATAGCTGTCTTG -3'

Sequencing Primer
(F):5'- TGATGCACCCAGACTCCTG -3'
(R):5'- AGGCCATAGCTGTCTTGTCCTG -3'
Posted On 2021-08-31