Incidental Mutation 'IGL02272:Ccdc191'
ID 287206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc191
Ensembl Gene ENSMUSG00000022701
Gene Name coiled-coil domain containing 191
Synonyms 2610015P09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # IGL02272
Quality Score
Status
Chromosome 16
Chromosomal Location 43710172-43784677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43780385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 731 (V731D)
Ref Sequence ENSEMBL: ENSMUSP00000116078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132859] [ENSMUST00000178400]
AlphaFold J3QQ27
Predicted Effect unknown
Transcript: ENSMUST00000122440
AA Change: V374D
SMART Domains Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701
AA Change: V374D

DomainStartEndE-ValueType
coiled coil region 114 147 N/A INTRINSIC
coiled coil region 211 284 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000132859
AA Change: V731D

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: V731D

DomainStartEndE-ValueType
coiled coil region 144 183 N/A INTRINSIC
coiled coil region 217 237 N/A INTRINSIC
coiled coil region 278 308 N/A INTRINSIC
low complexity region 349 368 N/A INTRINSIC
coiled coil region 471 504 N/A INTRINSIC
coiled coil region 568 641 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178400
AA Change: V789D

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: V789D

DomainStartEndE-ValueType
coiled coil region 202 241 N/A INTRINSIC
coiled coil region 275 295 N/A INTRINSIC
coiled coil region 336 366 N/A INTRINSIC
low complexity region 407 426 N/A INTRINSIC
coiled coil region 529 562 N/A INTRINSIC
coiled coil region 626 699 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign Het
Other mutations in Ccdc191
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Ccdc191 APN 16 43,779,663 (GRCm39) missense possibly damaging 0.81
IGL02473:Ccdc191 APN 16 43,777,257 (GRCm39) missense probably benign 0.03
IGL02660:Ccdc191 APN 16 43,780,462 (GRCm39) missense probably benign 0.11
LCD18:Ccdc191 UTSW 16 43,742,164 (GRCm39) intron probably benign
R0238:Ccdc191 UTSW 16 43,767,859 (GRCm39) nonsense probably null
R0238:Ccdc191 UTSW 16 43,767,859 (GRCm39) nonsense probably null
R0346:Ccdc191 UTSW 16 43,759,315 (GRCm39) missense probably damaging 0.99
R0590:Ccdc191 UTSW 16 43,751,704 (GRCm39) nonsense probably null
R0907:Ccdc191 UTSW 16 43,735,901 (GRCm39) missense probably benign 0.03
R0930:Ccdc191 UTSW 16 43,751,618 (GRCm39) missense probably damaging 1.00
R1761:Ccdc191 UTSW 16 43,763,873 (GRCm39) missense probably benign 0.01
R2127:Ccdc191 UTSW 16 43,728,998 (GRCm39) missense probably benign 0.00
R2408:Ccdc191 UTSW 16 43,751,561 (GRCm39) missense probably benign 0.08
R2567:Ccdc191 UTSW 16 43,764,330 (GRCm39) splice site probably null
R3104:Ccdc191 UTSW 16 43,751,573 (GRCm39) missense probably damaging 1.00
R3105:Ccdc191 UTSW 16 43,751,573 (GRCm39) missense probably damaging 1.00
R3106:Ccdc191 UTSW 16 43,751,573 (GRCm39) missense probably damaging 1.00
R4319:Ccdc191 UTSW 16 43,767,872 (GRCm39) missense probably damaging 1.00
R4320:Ccdc191 UTSW 16 43,767,872 (GRCm39) missense probably damaging 1.00
R4323:Ccdc191 UTSW 16 43,767,872 (GRCm39) missense probably damaging 1.00
R4324:Ccdc191 UTSW 16 43,767,872 (GRCm39) missense probably damaging 1.00
R4667:Ccdc191 UTSW 16 43,751,646 (GRCm39) missense probably damaging 1.00
R4676:Ccdc191 UTSW 16 43,759,536 (GRCm39) splice site probably benign
R4788:Ccdc191 UTSW 16 43,777,185 (GRCm39) missense probably damaging 1.00
R4976:Ccdc191 UTSW 16 43,763,868 (GRCm39) missense probably benign 0.17
R5557:Ccdc191 UTSW 16 43,728,976 (GRCm39) missense probably damaging 1.00
R6369:Ccdc191 UTSW 16 43,735,848 (GRCm39) missense probably benign 0.05
R7459:Ccdc191 UTSW 16 43,767,820 (GRCm39) nonsense probably null
R7543:Ccdc191 UTSW 16 43,718,572 (GRCm39) nonsense probably null
R7843:Ccdc191 UTSW 16 43,779,699 (GRCm39) missense probably damaging 1.00
R8077:Ccdc191 UTSW 16 43,735,968 (GRCm39) critical splice donor site probably null
R8474:Ccdc191 UTSW 16 43,710,262 (GRCm39) start gained probably benign
R8984:Ccdc191 UTSW 16 43,710,581 (GRCm39) intron probably benign
R8987:Ccdc191 UTSW 16 43,751,710 (GRCm39) missense probably benign 0.29
R9108:Ccdc191 UTSW 16 43,718,512 (GRCm39) missense possibly damaging 0.92
R9222:Ccdc191 UTSW 16 43,725,831 (GRCm39) missense probably damaging 1.00
R9276:Ccdc191 UTSW 16 43,764,041 (GRCm39) nonsense probably null
R9448:Ccdc191 UTSW 16 43,759,338 (GRCm39) missense
R9507:Ccdc191 UTSW 16 43,764,192 (GRCm39) missense probably damaging 0.99
R9757:Ccdc191 UTSW 16 43,762,170 (GRCm39) missense
Z1177:Ccdc191 UTSW 16 43,759,485 (GRCm39) missense possibly damaging 0.62
Posted On 2015-04-16