Incidental Mutation 'R4711:Ccser1'
ID 353266
Institutional Source Beutler Lab
Gene Symbol Ccser1
Ensembl Gene ENSMUSG00000039578
Gene Name coiled-coil serine rich 1
Synonyms 6230405M12Rik, Fam190a, C130092O11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R4711 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 61157308-62359849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61288910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 358 (N358D)
Ref Sequence ENSEMBL: ENSMUSP00000122894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000126214]
AlphaFold Q8C0C4
Predicted Effect possibly damaging
Transcript: ENSMUST00000045522
AA Change: N358D

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: N358D

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 possibly damaging
Transcript: ENSMUST00000126214
AA Change: N358D

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: N358D

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 noncoding transcript
Transcript: ENSMUST00000131989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147576
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Bin3 A G 14: 70,366,288 (GRCm39) probably null Het
Col20a1 G C 2: 180,634,284 (GRCm39) G83A probably damaging Het
Copa T G 1: 171,947,555 (GRCm39) F1124V probably damaging Het
Cyp2c66 G A 19: 39,151,843 (GRCm39) R186H possibly damaging Het
Dmxl2 G A 9: 54,358,208 (GRCm39) T323M probably benign Het
Dner T C 1: 84,361,618 (GRCm39) I664V possibly damaging Het
Erp29 A G 5: 121,583,293 (GRCm39) I211T possibly damaging Het
Exd1 A G 2: 119,369,232 (GRCm39) S128P possibly damaging Het
Grik4 T A 9: 42,540,389 (GRCm39) N264Y probably damaging Het
Gsdma2 T A 11: 98,540,439 (GRCm39) S119R probably damaging Het
H2ac1 C T 13: 24,118,796 (GRCm39) P118S possibly damaging Het
Ift140 T A 17: 25,313,691 (GRCm39) probably null Het
Ino80c T C 18: 24,247,222 (GRCm39) N59S probably benign Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mast4 A G 13: 103,470,627 (GRCm39) V25A probably benign Het
Mr1 T C 1: 155,012,336 (GRCm39) T193A probably benign Het
Muc5b C A 7: 141,399,770 (GRCm39) F414L unknown Het
Nat10 A T 2: 103,578,612 (GRCm39) C197* probably null Het
Nt5c1b A G 12: 10,420,093 (GRCm39) K11E probably damaging Het
Or5k8 A T 16: 58,645,069 (GRCm39) M1K probably null Het
Or8i2 T C 2: 86,852,370 (GRCm39) I173V probably damaging Het
Pak5 A G 2: 135,929,437 (GRCm39) I582T probably damaging Het
Pcdha12 A G 18: 37,153,976 (GRCm39) I232V probably benign Het
Pde8b T A 13: 95,166,958 (GRCm39) T664S probably benign Het
Pdik1l G C 4: 134,006,301 (GRCm39) R214G probably benign Het
Prss37 C T 6: 40,492,381 (GRCm39) V157M probably benign Het
Psma5-ps A G 10: 85,149,667 (GRCm39) noncoding transcript Het
Ring1 T C 17: 34,241,333 (GRCm39) E261G possibly damaging Het
Sf3a3 C A 4: 124,621,974 (GRCm39) D371E probably benign Het
Spag9 T A 11: 94,005,177 (GRCm39) probably null Het
Spred1 T A 2: 117,005,866 (GRCm39) S209R probably benign Het
Tas2r121 T C 6: 132,677,853 (GRCm39) T40A probably benign Het
Tbc1d5 T C 17: 51,242,537 (GRCm39) T187A probably damaging Het
Tenm2 C T 11: 36,191,039 (GRCm39) V311I probably damaging Het
Thoc2l T C 5: 104,667,527 (GRCm39) V683A probably damaging Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Trappc14 T C 5: 138,261,167 (GRCm39) probably benign Het
Ttn G A 2: 76,660,404 (GRCm39) A7439V possibly damaging Het
Wdr64 T C 1: 175,626,795 (GRCm39) I838T probably damaging Het
Wdr7 A G 18: 63,861,536 (GRCm39) T183A probably benign 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
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
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'- ACAATTTTGGCCACAATGATGC -3'
(R):5'- ATTACCCTTGAATCCGAGACAGG -3'

Sequencing Primer
(F):5'- TGGCCACAATGATGCTACCTC -3'
(R):5'- GGTGGACCCCTTTAAAGCGTTC -3'
Posted On 2015-10-21