Incidental Mutation 'R7875:Ccser1'
ID 608374
Institutional Source Beutler Lab
Gene Symbol Ccser1
Ensembl Gene ENSMUSG00000039578
Gene Name coiled-coil serine rich 1
Synonyms 6230405M12Rik, Fam190a, C130092O11Rik
MMRRC Submission 045927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R7875 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 61157308-62359849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61288932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 365 (H365L)
Ref Sequence ENSEMBL: ENSMUSP00000040251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000126214]
AlphaFold Q8C0C4
Predicted Effect probably benign
Transcript: ENSMUST00000045522
AA Change: H365L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: H365L

DomainStartEndE-ValueType
low complexity region 28 36 N/A INTRINSIC
low complexity region 43 61 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
low complexity region 510 525 N/A INTRINSIC
low complexity region 645 659 N/A INTRINSIC
coiled coil region 674 703 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126214
AA Change: H365L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: H365L

DomainStartEndE-ValueType
low complexity region 28 36 N/A INTRINSIC
low complexity region 43 61 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
low complexity region 510 525 N/A INTRINSIC
low complexity region 645 659 N/A INTRINSIC
coiled coil region 674 703 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,958,459 (GRCm39) F102I probably damaging Het
Acp7 A T 7: 28,314,152 (GRCm39) Y348N probably damaging Het
Adgre4 A T 17: 56,099,016 (GRCm39) D174V probably benign Het
Ahdc1 A G 4: 132,791,161 (GRCm39) T801A possibly damaging Het
Aldh1a7 A C 19: 20,693,343 (GRCm39) V192G possibly damaging Het
Anp32b T G 4: 46,451,301 (GRCm39) D2E probably benign Het
Arhgef11 A T 3: 87,591,808 (GRCm39) D53V probably damaging Het
Arid5b T C 10: 67,964,771 (GRCm39) N300S probably benign Het
Ascc2 A G 11: 4,618,389 (GRCm39) N328S probably benign Het
Aspm A T 1: 139,382,872 (GRCm39) Q68L probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Col1a2 T A 6: 4,518,500 (GRCm39) N213K unknown Het
Col7a1 T C 9: 108,787,763 (GRCm39) V681A unknown Het
Cplane1 A G 15: 8,239,446 (GRCm39) I1216V probably benign Het
Dock9 A T 14: 121,863,396 (GRCm39) Y792* probably null Het
Fam241b A T 10: 61,970,271 (GRCm39) S10R Het
Gab1 C T 8: 81,515,395 (GRCm39) D308N probably damaging Het
Gdf11 C T 10: 128,722,210 (GRCm39) R215H probably benign Het
Gpc1 T C 1: 92,782,970 (GRCm39) probably null Het
Hnf4a G T 2: 163,400,980 (GRCm39) E200* probably null Het
Ints2 T C 11: 86,103,888 (GRCm39) T1086A probably damaging Het
Kbtbd7 A G 14: 79,664,806 (GRCm39) T213A probably benign Het
Kcnt2 A G 1: 140,501,385 (GRCm39) D917G probably damaging Het
Kdm5a C A 6: 120,375,979 (GRCm39) Y578* probably null Het
Lrrtm4 A T 6: 79,999,343 (GRCm39) T252S possibly damaging Het
Mamdc4 C T 2: 25,458,677 (GRCm39) W305* probably null Het
Mzb1 A G 18: 35,780,913 (GRCm39) I125T possibly damaging Het
Nfrkb A G 9: 31,321,450 (GRCm39) T716A possibly damaging Het
Or2ad1 T A 13: 21,327,093 (GRCm39) I45F probably damaging Het
Or4f6 A G 2: 111,839,192 (GRCm39) V113A probably benign Het
Or52r1b A G 7: 102,691,060 (GRCm39) M120V probably damaging Het
Or8k16 G A 2: 85,519,838 (GRCm39) E22K probably benign Het
Plcxd2 G A 16: 45,830,065 (GRCm39) A52V possibly damaging Het
Poteg C T 8: 27,939,942 (GRCm39) P95L probably benign Het
Prdm9 A T 17: 15,773,804 (GRCm39) Y322* probably null Het
Rab11fip2 G C 19: 59,925,655 (GRCm39) I187M possibly damaging Het
Ranbp2 G T 10: 58,314,277 (GRCm39) E1666* probably null Het
Rin3 T C 12: 102,335,735 (GRCm39) S549P probably damaging Het
Scn10a C T 9: 119,464,508 (GRCm39) probably null Het
Scn3a A G 2: 65,327,826 (GRCm39) F888S probably damaging Het
Sik3 T A 9: 46,034,528 (GRCm39) I96N probably damaging Het
Slc12a7 T A 13: 73,936,723 (GRCm39) C128S possibly damaging Het
Spata31h1 T C 10: 82,123,456 (GRCm39) S3185G possibly damaging Het
Syde2 A G 3: 145,726,020 (GRCm39) E1304G probably damaging Het
Tagln T C 9: 45,841,680 (GRCm39) I199V probably damaging Het
Tars3 T A 7: 65,327,899 (GRCm39) V536E probably benign Het
Tas2r140 A G 6: 40,469,097 (GRCm39) K309R probably damaging Het
Thra A T 11: 98,659,257 (GRCm39) D462V probably damaging Het
Topaz1 A G 9: 122,578,652 (GRCm39) T521A possibly damaging Het
Uhrf1 A G 17: 56,619,884 (GRCm39) N265S possibly damaging Het
Upk3b A T 5: 136,069,057 (GRCm39) Y142F probably benign Het
Vmn1r219 T C 13: 23,347,363 (GRCm39) V184A possibly damaging Het
Vmn1r58 T C 7: 5,413,753 (GRCm39) D159G probably damaging Het
Vnn3 C A 10: 23,743,146 (GRCm39) A452D possibly damaging Het
Wscd1 T A 11: 71,679,560 (GRCm39) Y478N probably damaging Het
Xrcc5 C T 1: 72,369,090 (GRCm39) R315C probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Other mutations in Ccser1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Ccser1 APN 6 62,357,126 (GRCm39) missense possibly damaging 0.80
IGL00858:Ccser1 APN 6 61,787,649 (GRCm39) nonsense probably null
IGL01012:Ccser1 APN 6 61,615,474 (GRCm39) missense probably benign 0.01
IGL01391:Ccser1 APN 6 61,615,505 (GRCm39) splice site probably benign
IGL01643:Ccser1 APN 6 61,288,839 (GRCm39) missense probably benign 0.01
IGL01767:Ccser1 APN 6 61,695,136 (GRCm39) missense probably benign 0.03
IGL02081:Ccser1 APN 6 61,288,152 (GRCm39) nonsense probably null
IGL02152:Ccser1 APN 6 61,288,692 (GRCm39) missense possibly damaging 0.57
IGL02870:Ccser1 APN 6 61,288,276 (GRCm39) missense probably damaging 0.99
IGL02890:Ccser1 APN 6 62,356,815 (GRCm39) missense probably damaging 0.99
IGL03147:Ccser1 UTSW 6 61,289,144 (GRCm39) missense probably benign 0.02
R0020:Ccser1 UTSW 6 61,290,788 (GRCm39) missense possibly damaging 0.62
R0831:Ccser1 UTSW 6 61,400,045 (GRCm39) missense probably damaging 0.99
R1306:Ccser1 UTSW 6 62,357,090 (GRCm39) missense probably damaging 0.99
R1441:Ccser1 UTSW 6 62,357,016 (GRCm39) missense probably benign 0.00
R1650:Ccser1 UTSW 6 61,615,474 (GRCm39) missense probably benign 0.01
R1653:Ccser1 UTSW 6 61,288,449 (GRCm39) missense probably benign 0.00
R1913:Ccser1 UTSW 6 62,356,878 (GRCm39) missense probably damaging 0.99
R1961:Ccser1 UTSW 6 61,290,630 (GRCm39) splice site probably benign
R2030:Ccser1 UTSW 6 61,288,547 (GRCm39) missense probably benign
R2056:Ccser1 UTSW 6 61,399,936 (GRCm39) splice site probably null
R2268:Ccser1 UTSW 6 61,547,827 (GRCm39) missense probably damaging 1.00
R2280:Ccser1 UTSW 6 61,547,799 (GRCm39) missense probably damaging 1.00
R2281:Ccser1 UTSW 6 61,547,799 (GRCm39) missense probably damaging 1.00
R2571:Ccser1 UTSW 6 61,399,944 (GRCm39) missense probably damaging 1.00
R4606:Ccser1 UTSW 6 61,288,568 (GRCm39) missense probably damaging 0.99
R4711:Ccser1 UTSW 6 61,288,910 (GRCm39) missense possibly damaging 0.74
R4770:Ccser1 UTSW 6 61,288,485 (GRCm39) missense possibly damaging 0.85
R4932:Ccser1 UTSW 6 61,695,175 (GRCm39) missense possibly damaging 0.78
R5078:Ccser1 UTSW 6 61,288,350 (GRCm39) missense probably damaging 0.97
R5097:Ccser1 UTSW 6 61,289,144 (GRCm39) missense probably benign 0.02
R5221:Ccser1 UTSW 6 61,289,075 (GRCm39) missense probably damaging 0.99
R5378:Ccser1 UTSW 6 61,288,650 (GRCm39) missense probably benign 0.00
R5604:Ccser1 UTSW 6 61,290,788 (GRCm39) missense probably damaging 0.97
R5700:Ccser1 UTSW 6 61,288,260 (GRCm39) missense probably benign 0.00
R5970:Ccser1 UTSW 6 61,288,226 (GRCm39) missense possibly damaging 0.94
R6257:Ccser1 UTSW 6 62,356,769 (GRCm39) missense probably benign
R6257:Ccser1 UTSW 6 61,350,946 (GRCm39) missense probably damaging 0.96
R6375:Ccser1 UTSW 6 61,288,152 (GRCm39) nonsense probably null
R6703:Ccser1 UTSW 6 61,615,495 (GRCm39) nonsense probably null
R6930:Ccser1 UTSW 6 62,357,009 (GRCm39) missense probably benign 0.03
R7256:Ccser1 UTSW 6 61,288,851 (GRCm39) missense probably benign 0.38
R7362:Ccser1 UTSW 6 61,787,864 (GRCm39) missense unknown
R7508:Ccser1 UTSW 6 61,547,707 (GRCm39) missense probably benign 0.05
R7532:Ccser1 UTSW 6 62,356,915 (GRCm39) nonsense probably null
R7533:Ccser1 UTSW 6 61,615,474 (GRCm39) missense probably benign 0.25
R7729:Ccser1 UTSW 6 61,288,840 (GRCm39) missense probably benign
R8055:Ccser1 UTSW 6 61,290,757 (GRCm39) missense possibly damaging 0.47
R8396:Ccser1 UTSW 6 61,289,088 (GRCm39) missense probably benign 0.09
R8724:Ccser1 UTSW 6 61,288,199 (GRCm39) missense probably damaging 0.99
R8849:Ccser1 UTSW 6 61,288,537 (GRCm39) missense probably benign 0.00
R8906:Ccser1 UTSW 6 61,787,842 (GRCm39) missense probably benign 0.00
R9058:Ccser1 UTSW 6 61,350,976 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGTCTTACTGCTGTCTCAAAG -3'
(R):5'- ATACCTTTGGCAGCACTCGC -3'

Sequencing Primer
(F):5'- GTCTCAAAGACAAAGATGGAATTTG -3'
(R):5'- TGTTAAAAACATGATCCCCAGAGG -3'
Posted On 2019-12-20