Incidental Mutation 'R7532:Ccser1'
ID 583360
Institutional Source Beutler Lab
Gene Symbol Ccser1
Ensembl Gene ENSMUSG00000039578
Gene Name coiled-coil serine rich 1
Synonyms 6230405M12Rik, Fam190a, C130092O11Rik
MMRRC Submission 045604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R7532 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 61157308-62359849 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 62356915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 784 (C784*)
Ref Sequence ENSEMBL: ENSMUSP00000040251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000126214] [ENSMUST00000232648]
AlphaFold Q8C0C4
Predicted Effect probably null
Transcript: ENSMUST00000045522
AA Change: C784*
SMART Domains Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: C784*

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 null
Transcript: ENSMUST00000126214
AA Change: C784*
SMART Domains Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: C784*

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: ENSMUST00000232648
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,220,589 (GRCm39) I174K probably damaging Het
Ano2 A T 6: 125,940,667 (GRCm39) I597F probably damaging Het
Ap1g1 T C 8: 110,586,796 (GRCm39) V813A probably damaging Het
Bpnt1 A T 1: 185,084,523 (GRCm39) I207F possibly damaging Het
Brinp3 T A 1: 146,777,139 (GRCm39) W529R probably damaging Het
C2cd2l C T 9: 44,226,681 (GRCm39) R355Q probably benign Het
Cdh20 A T 1: 110,065,889 (GRCm39) D721V probably damaging Het
Chd9 A G 8: 91,721,193 (GRCm39) I994V unknown Het
Cst13 T G 2: 148,665,127 (GRCm39) Y41D probably benign Het
Cyth2 C T 7: 45,457,448 (GRCm39) A342T probably benign Het
Dapk1 T C 13: 60,878,700 (GRCm39) L563P probably damaging Het
Dclk3 T G 9: 111,296,596 (GRCm39) S47A probably benign Het
Dync1h1 C A 12: 110,618,011 (GRCm39) N3183K probably benign Het
Enpp1 C T 10: 24,551,885 (GRCm39) V165M probably benign Het
Ephx3 T C 17: 32,407,763 (GRCm39) N173S possibly damaging Het
Erc1 T A 6: 119,756,592 (GRCm39) D388V probably benign Het
Esp34 T G 17: 38,870,511 (GRCm39) V135G possibly damaging Het
Gfy G A 7: 44,827,461 (GRCm39) P212S probably damaging Het
Gm5239 C T 18: 35,669,795 (GRCm39) R54C probably benign Het
Gtpbp3 T C 8: 71,942,107 (GRCm39) F113L probably benign Het
Hectd1 T A 12: 51,837,233 (GRCm39) D775V probably damaging Het
Ifrd2 T G 9: 107,469,721 (GRCm39) S431R probably damaging Het
Impg2 G A 16: 56,087,543 (GRCm39) A1121T probably damaging Het
Irx1 A G 13: 72,108,314 (GRCm39) F123L possibly damaging Het
Itgb6 C T 2: 60,499,557 (GRCm39) V79I probably benign Het
Kcnd3 G A 3: 105,575,526 (GRCm39) R550H probably damaging Het
Klhl9 A T 4: 88,639,090 (GRCm39) S384T possibly damaging Het
Kng2 T C 16: 22,845,794 (GRCm39) probably null Het
Lipo3 T C 19: 33,560,464 (GRCm39) N67S possibly damaging Het
Mgst1 T C 6: 138,130,504 (GRCm39) S78P probably benign Het
Ms4a14 A G 19: 11,281,323 (GRCm39) Y412H possibly damaging Het
Mucl2 A C 15: 103,926,318 (GRCm39) I124S unknown Het
Myh3 A G 11: 66,981,921 (GRCm39) M806V probably benign Het
Nelfcd T C 2: 174,268,189 (GRCm39) L501P probably damaging Het
Nlrp6 C A 7: 140,505,097 (GRCm39) P748Q probably benign Het
Or1j13 C T 2: 36,370,138 (GRCm39) M1I probably null Het
Or6n2 T C 1: 173,897,664 (GRCm39) S267P probably benign Het
Plxna2 G A 1: 194,327,127 (GRCm39) A354T probably benign Het
Prpf39 G T 12: 65,100,145 (GRCm39) V273L probably benign Het
Rad9a T C 19: 4,251,522 (GRCm39) probably benign Het
Rnf135 A G 11: 80,089,732 (GRCm39) D356G probably benign Het
Rragd G T 4: 33,004,166 (GRCm39) A153S possibly damaging Het
Selenot G T 3: 58,492,653 (GRCm39) V47L probably benign Het
Smc2 T C 4: 52,451,013 (GRCm39) L277P probably damaging Het
Sp7 A G 15: 102,267,584 (GRCm39) F92S possibly damaging Het
Spata1 A T 3: 146,173,946 (GRCm39) I380N possibly damaging Het
Spdye4b G T 5: 143,180,652 (GRCm39) R39S possibly damaging Het
Spmip9 T C 6: 70,890,621 (GRCm39) K57R probably benign Het
Stom C A 2: 35,211,589 (GRCm39) R144L possibly damaging Het
Tsc22d1 T C 14: 76,653,486 (GRCm39) probably benign Het
Unc13b A G 4: 43,249,565 (GRCm39) T998A probably benign Het
Vcl C A 14: 21,079,392 (GRCm39) A965D probably damaging Het
Vmn1r69 A T 7: 10,314,281 (GRCm39) V150D probably damaging Het
Vmn1r90 T G 7: 14,295,189 (GRCm39) N303T possibly damaging Het
Vmn2r69 A T 7: 85,059,622 (GRCm39) M429K probably benign Het
Vmn2r8 T A 5: 108,950,106 (GRCm39) Y247F probably benign Het
Washc5 A T 15: 59,239,260 (GRCm39) S168T possibly 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
R7533:Ccser1 UTSW 6 61,615,474 (GRCm39) missense probably benign 0.25
R7729:Ccser1 UTSW 6 61,288,840 (GRCm39) missense probably benign
R7875:Ccser1 UTSW 6 61,288,932 (GRCm39) missense probably benign 0.06
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'- GCTTCAGGTTTGTACATAAGGG -3'
(R):5'- TTCTGAGAACATGGGCAGC -3'

Sequencing Primer
(F):5'- CAGGACACTGTAAGATGGTTTTTC -3'
(R):5'- TGAGAACATGGGCAGCCCTTC -3'
Posted On 2019-10-17