Incidental Mutation 'R9108:Ccdc191'
ID 692103
Institutional Source Beutler Lab
Gene Symbol Ccdc191
Ensembl Gene ENSMUSG00000022701
Gene Name coiled-coil domain containing 191
Synonyms 2610015P09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R9108 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 43889800-43964314 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43898149 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 36 (D36E)
Ref Sequence ENSEMBL: ENSMUSP00000137597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132859] [ENSMUST00000151183] [ENSMUST00000178400]
AlphaFold J3QQ27
Predicted Effect probably benign
Transcript: ENSMUST00000132859
SMART Domains Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701

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 probably benign
Transcript: ENSMUST00000151183
Predicted Effect possibly damaging
Transcript: ENSMUST00000178400
AA Change: D36E

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: D36E

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G A 18: 6,638,794 (GRCm38) V398M probably benign Het
4930568D16Rik G A 2: 35,354,930 (GRCm38) P137S probably damaging Het
Abcb9 T C 5: 124,090,113 (GRCm38) T22A possibly damaging Het
Abcg8 A C 17: 84,692,815 (GRCm38) I268L probably benign Het
Acvrl1 A G 15: 101,141,157 (GRCm38) Q445R probably damaging Het
Adam17 T C 12: 21,330,131 (GRCm38) N625D probably benign Het
Adamts9 C T 6: 92,880,740 (GRCm38) V856M probably damaging Het
Adar T C 3: 89,736,167 (GRCm38) C452R probably damaging Het
Adgra3 G T 5: 49,978,953 (GRCm38) A730D probably damaging Het
Adnp2 C T 18: 80,142,710 (GRCm38) R16Q probably damaging Het
Aox2 T C 1: 58,282,692 (GRCm38) C48R probably damaging Het
Cabin1 T C 10: 75,657,139 (GRCm38) E1774G possibly damaging Het
Capsl A T 15: 9,465,824 (GRCm38) I199F possibly damaging Het
Ccdc144b T G 3: 36,025,887 (GRCm38) *240C probably null Het
Cep170 T A 1: 176,788,485 (GRCm38) K86* probably null Het
Cnnm1 T C 19: 43,476,210 (GRCm38) F736S possibly damaging Het
Col11a2 T A 17: 34,057,660 (GRCm38) V532E probably benign Het
Dnmt3l T C 10: 78,056,922 (GRCm38) probably null Het
Dync1h1 T A 12: 110,656,272 (GRCm38) probably benign Het
Dzank1 C A 2: 144,522,471 (GRCm38) V69L probably benign Het
Epor T G 9: 21,959,579 (GRCm38) E335A probably damaging Het
Fbxo46 A T 7: 19,136,383 (GRCm38) Y309F probably damaging Het
Fra10ac1 A T 19: 38,214,331 (GRCm38) probably benign Het
Gid8 G T 2: 180,710,339 (GRCm38) probably benign Het
Gm14124 T A 2: 150,268,049 (GRCm38) C220S possibly damaging Het
Gnptab C T 10: 88,433,538 (GRCm38) S701L Het
Ifnl3 T C 7: 28,524,279 (GRCm38) L180P probably benign Het
Ikzf2 T A 1: 69,538,797 (GRCm38) I518F probably damaging Het
Ildr1 A G 16: 36,715,557 (GRCm38) T145A probably benign Het
Kiss1r A T 10: 79,918,502 (GRCm38) probably benign Het
Lhpp A G 7: 132,650,289 (GRCm38) D219G probably damaging Het
Lrp1 A T 10: 127,554,337 (GRCm38) M3071K probably damaging Het
Map6 T C 7: 99,336,896 (GRCm38) L872P probably damaging Het
Mgst2 T A 3: 51,681,812 (GRCm38) L82Q probably damaging Het
Mier2 A T 10: 79,541,922 (GRCm38) V399E probably benign Het
Nms T C 1: 38,946,066 (GRCm38) V91A possibly damaging Het
Nt5dc2 T A 14: 31,135,059 (GRCm38) Y145* probably null Het
Olfml2a A T 2: 38,941,741 (GRCm38) M111L probably benign Het
Olfr487 T C 7: 108,211,639 (GRCm38) N297D probably damaging Het
Olfr501-ps1 T A 7: 108,508,572 (GRCm38) L172Q unknown Het
Plod3 T C 5: 136,989,163 (GRCm38) I221T probably damaging Het
Polm T C 11: 5,829,872 (GRCm38) Q342R probably benign Het
Ppp2r5c A T 12: 110,554,869 (GRCm38) L275F probably damaging Het
Prdm12 C T 2: 31,643,917 (GRCm38) T182M possibly damaging Het
Rasgrp2 G A 19: 6,408,860 (GRCm38) V440M probably damaging Het
Rnf111 C T 9: 70,429,564 (GRCm38) G947D probably damaging Het
Runx3 A T 4: 135,155,381 (GRCm38) M143L probably damaging Het
Samd9l T C 6: 3,373,104 (GRCm38) S1386G possibly damaging Het
Saxo2 C T 7: 82,634,874 (GRCm38) V259I probably benign Het
Shroom3 T C 5: 92,940,116 (GRCm38) S242P probably damaging Het
Slc35e1 G A 8: 72,492,186 (GRCm38) P134L Het
Spata31d1a A G 13: 59,703,168 (GRCm38) V382A probably benign Het
Tanc2 T A 11: 105,919,754 (GRCm38) probably benign Het
Tenm3 A T 8: 48,313,236 (GRCm38) probably null Het
Trip10 C T 17: 57,253,519 (GRCm38) A123V probably damaging Het
Trmt13 A G 3: 116,581,480 (GRCm38) S460P probably damaging Het
Trpd52l3 A G 19: 30,003,929 (GRCm38) N28S probably benign Het
Tubb4a A G 17: 57,081,232 (GRCm38) F265L probably benign Het
Uba6 A T 5: 86,135,075 (GRCm38) C581S possibly damaging Het
Uckl1 A G 2: 181,569,500 (GRCm38) V512A probably damaging Het
Usp34 A T 11: 23,370,528 (GRCm38) M957L Het
Vmn2r57 T C 7: 41,428,768 (GRCm38) I89V possibly damaging Het
Zfp322a T C 13: 23,357,267 (GRCm38) I102V probably benign Het
Zzef1 A G 11: 72,899,778 (GRCm38) D2186G probably benign Het
Other mutations in Ccdc191
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Ccdc191 APN 16 43,959,300 (GRCm38) missense possibly damaging 0.81
IGL02272:Ccdc191 APN 16 43,960,022 (GRCm38) missense possibly damaging 0.85
IGL02473:Ccdc191 APN 16 43,956,894 (GRCm38) missense probably benign 0.03
IGL02660:Ccdc191 APN 16 43,960,099 (GRCm38) missense probably benign 0.11
LCD18:Ccdc191 UTSW 16 43,921,801 (GRCm38) intron probably benign
R0238:Ccdc191 UTSW 16 43,947,496 (GRCm38) nonsense probably null
R0238:Ccdc191 UTSW 16 43,947,496 (GRCm38) nonsense probably null
R0346:Ccdc191 UTSW 16 43,938,952 (GRCm38) missense probably damaging 0.99
R0590:Ccdc191 UTSW 16 43,931,341 (GRCm38) nonsense probably null
R0907:Ccdc191 UTSW 16 43,915,538 (GRCm38) missense probably benign 0.03
R0930:Ccdc191 UTSW 16 43,931,255 (GRCm38) missense probably damaging 1.00
R1761:Ccdc191 UTSW 16 43,943,510 (GRCm38) missense probably benign 0.01
R2127:Ccdc191 UTSW 16 43,908,635 (GRCm38) missense probably benign 0.00
R2408:Ccdc191 UTSW 16 43,931,198 (GRCm38) missense probably benign 0.08
R2567:Ccdc191 UTSW 16 43,943,967 (GRCm38) splice site probably null
R3104:Ccdc191 UTSW 16 43,931,210 (GRCm38) missense probably damaging 1.00
R3105:Ccdc191 UTSW 16 43,931,210 (GRCm38) missense probably damaging 1.00
R3106:Ccdc191 UTSW 16 43,931,210 (GRCm38) missense probably damaging 1.00
R4319:Ccdc191 UTSW 16 43,947,509 (GRCm38) missense probably damaging 1.00
R4320:Ccdc191 UTSW 16 43,947,509 (GRCm38) missense probably damaging 1.00
R4323:Ccdc191 UTSW 16 43,947,509 (GRCm38) missense probably damaging 1.00
R4324:Ccdc191 UTSW 16 43,947,509 (GRCm38) missense probably damaging 1.00
R4667:Ccdc191 UTSW 16 43,931,283 (GRCm38) missense probably damaging 1.00
R4676:Ccdc191 UTSW 16 43,939,173 (GRCm38) splice site probably benign
R4788:Ccdc191 UTSW 16 43,956,822 (GRCm38) missense probably damaging 1.00
R4976:Ccdc191 UTSW 16 43,943,505 (GRCm38) missense probably benign 0.17
R5557:Ccdc191 UTSW 16 43,908,613 (GRCm38) missense probably damaging 1.00
R6369:Ccdc191 UTSW 16 43,915,485 (GRCm38) missense probably benign 0.05
R7459:Ccdc191 UTSW 16 43,947,457 (GRCm38) nonsense probably null
R7543:Ccdc191 UTSW 16 43,898,209 (GRCm38) nonsense probably null
R7843:Ccdc191 UTSW 16 43,959,336 (GRCm38) missense probably damaging 1.00
R8077:Ccdc191 UTSW 16 43,915,605 (GRCm38) critical splice donor site probably null
R8474:Ccdc191 UTSW 16 43,889,899 (GRCm38) start gained probably benign
R8984:Ccdc191 UTSW 16 43,890,218 (GRCm38) intron probably benign
R8987:Ccdc191 UTSW 16 43,931,347 (GRCm38) missense probably benign 0.29
R9222:Ccdc191 UTSW 16 43,905,468 (GRCm38) missense probably damaging 1.00
R9276:Ccdc191 UTSW 16 43,943,678 (GRCm38) nonsense probably null
R9448:Ccdc191 UTSW 16 43,938,975 (GRCm38) missense
R9507:Ccdc191 UTSW 16 43,943,829 (GRCm38) missense probably damaging 0.99
R9757:Ccdc191 UTSW 16 43,941,807 (GRCm38) missense
Z1177:Ccdc191 UTSW 16 43,939,122 (GRCm38) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- TTGGCCAATTGCTGCAATTAAC -3'
(R):5'- GGATAAGAGCAGCTTTCACTCC -3'

Sequencing Primer
(F):5'- TTGTTCAGTGTCAACAAAAGGG -3'
(R):5'- CACTCCGTGCTTTGCAGTGAG -3'
Posted On 2021-12-30