Incidental Mutation 'R7481:Ccdc175'
ID 579828
Institutional Source Beutler Lab
Gene Symbol Ccdc175
Ensembl Gene ENSMUSG00000021086
Gene Name coiled-coil domain containing 175
Synonyms 4930403N07Rik
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 72148074-72231803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72202398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 299 (I299T)
Ref Sequence ENSEMBL: ENSMUSP00000021494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021494]
AlphaFold E9PVB3
Predicted Effect probably benign
Transcript: ENSMUST00000021494
AA Change: I299T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: I299T

DomainStartEndE-ValueType
coiled coil region 129 164 N/A INTRINSIC
coiled coil region 205 235 N/A INTRINSIC
coiled coil region 295 383 N/A INTRINSIC
low complexity region 470 490 N/A INTRINSIC
coiled coil region 517 537 N/A INTRINSIC
low complexity region 803 819 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N probably benign Het
Other mutations in Ccdc175
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Ccdc175 APN 12 72,177,916 (GRCm39) splice site probably benign
IGL01805:Ccdc175 APN 12 72,176,003 (GRCm39) splice site probably benign
IGL01807:Ccdc175 APN 12 72,206,616 (GRCm39) missense probably benign 0.02
IGL01985:Ccdc175 APN 12 72,175,052 (GRCm39) nonsense probably null
IGL02719:Ccdc175 APN 12 72,221,899 (GRCm39) missense probably damaging 0.97
IGL02944:Ccdc175 APN 12 72,164,667 (GRCm39) missense probably benign 0.02
IGL03113:Ccdc175 APN 12 72,191,557 (GRCm39) missense probably benign 0.00
IGL03143:Ccdc175 APN 12 72,182,832 (GRCm39) missense probably benign 0.03
IGL03356:Ccdc175 APN 12 72,186,667 (GRCm39) splice site probably null
R0009:Ccdc175 UTSW 12 72,182,739 (GRCm39) missense possibly damaging 0.87
R0233:Ccdc175 UTSW 12 72,152,650 (GRCm39) missense probably benign 0.00
R0233:Ccdc175 UTSW 12 72,152,650 (GRCm39) missense probably benign 0.00
R0609:Ccdc175 UTSW 12 72,204,281 (GRCm39) missense probably benign 0.07
R0706:Ccdc175 UTSW 12 72,186,722 (GRCm39) missense probably benign 0.04
R0948:Ccdc175 UTSW 12 72,177,897 (GRCm39) missense probably damaging 1.00
R1054:Ccdc175 UTSW 12 72,225,318 (GRCm39) missense possibly damaging 0.85
R1166:Ccdc175 UTSW 12 72,152,706 (GRCm39) missense probably damaging 1.00
R1481:Ccdc175 UTSW 12 72,148,722 (GRCm39) unclassified probably benign
R1860:Ccdc175 UTSW 12 72,152,700 (GRCm39) missense probably benign
R2077:Ccdc175 UTSW 12 72,186,794 (GRCm39) missense possibly damaging 0.54
R3806:Ccdc175 UTSW 12 72,227,598 (GRCm39) missense possibly damaging 0.72
R3879:Ccdc175 UTSW 12 72,182,792 (GRCm39) missense probably damaging 1.00
R3887:Ccdc175 UTSW 12 72,182,822 (GRCm39) missense possibly damaging 0.65
R4557:Ccdc175 UTSW 12 72,175,080 (GRCm39) missense probably benign 0.08
R4585:Ccdc175 UTSW 12 72,221,953 (GRCm39) missense possibly damaging 0.65
R4686:Ccdc175 UTSW 12 72,159,052 (GRCm39) missense probably damaging 1.00
R4766:Ccdc175 UTSW 12 72,158,979 (GRCm39) missense probably benign 0.00
R4773:Ccdc175 UTSW 12 72,182,822 (GRCm39) missense probably damaging 0.99
R4909:Ccdc175 UTSW 12 72,206,527 (GRCm39) missense probably damaging 1.00
R4964:Ccdc175 UTSW 12 72,227,619 (GRCm39) missense probably damaging 1.00
R5338:Ccdc175 UTSW 12 72,231,745 (GRCm39) missense probably damaging 0.99
R5539:Ccdc175 UTSW 12 72,191,587 (GRCm39) missense probably benign 0.00
R5897:Ccdc175 UTSW 12 72,206,578 (GRCm39) missense probably benign 0.06
R6128:Ccdc175 UTSW 12 72,175,933 (GRCm39) missense probably benign 0.07
R6520:Ccdc175 UTSW 12 72,186,804 (GRCm39) missense probably damaging 0.98
R6523:Ccdc175 UTSW 12 72,191,565 (GRCm39) missense probably benign 0.01
R6917:Ccdc175 UTSW 12 72,231,679 (GRCm39) missense probably damaging 1.00
R7035:Ccdc175 UTSW 12 72,202,419 (GRCm39) missense probably benign 0.01
R7097:Ccdc175 UTSW 12 72,175,183 (GRCm39) splice site probably null
R7339:Ccdc175 UTSW 12 72,182,815 (GRCm39) missense probably damaging 1.00
R7450:Ccdc175 UTSW 12 72,202,447 (GRCm39) missense possibly damaging 0.93
R7676:Ccdc175 UTSW 12 72,148,821 (GRCm39) missense possibly damaging 0.57
R8045:Ccdc175 UTSW 12 72,202,676 (GRCm39) intron probably benign
R8383:Ccdc175 UTSW 12 72,155,952 (GRCm39) missense possibly damaging 0.95
R8470:Ccdc175 UTSW 12 72,202,392 (GRCm39) missense probably damaging 0.97
R9211:Ccdc175 UTSW 12 72,153,458 (GRCm39) missense probably damaging 1.00
R9739:Ccdc175 UTSW 12 72,186,792 (GRCm39) missense probably benign 0.00
Z1088:Ccdc175 UTSW 12 72,175,153 (GRCm39) missense probably benign 0.01
Z1176:Ccdc175 UTSW 12 72,159,082 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CAAACATACTGCATGGGGTCG -3'
(R):5'- ACTGCATTTAGACATCTACTCCATC -3'

Sequencing Primer
(F):5'- TCGTAAGACCATGATCTGTAGCC -3'
(R):5'- GAATTACTGCTGTGAACCC -3'
Posted On 2019-10-07