Incidental Mutation 'R4041:Cage1'
ID 313892
Institutional Source Beutler Lab
Gene Symbol Cage1
Ensembl Gene ENSMUSG00000044566
Gene Name cancer antigen 1
Synonyms Ctag3, CAGE1, 4933427I01Rik
MMRRC Submission 040966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4041 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 38190028-38221045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38203153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 637 (L637P)
Ref Sequence ENSEMBL: ENSMUSP00000105862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074969] [ENSMUST00000089840] [ENSMUST00000110233] [ENSMUST00000131066]
AlphaFold Q5IR70
Predicted Effect possibly damaging
Transcript: ENSMUST00000074969
AA Change: L637P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: L637P

DomainStartEndE-ValueType
Pfam:CAGE1 1 526 5.1e-292 PFAM
low complexity region 664 682 N/A INTRINSIC
coiled coil region 778 811 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089840
SMART Domains Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566

DomainStartEndE-ValueType
Pfam:CAGE1 1 420 6.8e-230 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110233
AA Change: L637P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: L637P

DomainStartEndE-ValueType
Pfam:CAGE1 1 526 2.4e-255 PFAM
low complexity region 664 682 N/A INTRINSIC
coiled coil region 778 811 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131066
SMART Domains Protein: ENSMUSP00000122393
Gene: ENSMUSG00000044566

DomainStartEndE-ValueType
Pfam:CAGE1 1 318 6.5e-167 PFAM
Meta Mutation Damage Score 0.4848 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 100% (29/29)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf5 T C 7: 44,462,921 (GRCm39) T68A possibly damaging Het
Cfl1 T C 19: 5,542,556 (GRCm39) I12T probably benign Het
Clcn1 A G 6: 42,286,902 (GRCm39) E653G probably damaging Het
Cntnap5a C A 1: 116,112,129 (GRCm39) P473Q probably benign Het
Dnah7b T C 1: 46,120,655 (GRCm39) S91P probably benign Het
Fcgbp A G 7: 27,813,404 (GRCm39) Q2313R probably benign Het
Gpc5 A T 14: 115,370,628 (GRCm39) Q151L probably damaging Het
Hexim1 A G 11: 103,007,932 (GRCm39) E62G probably benign Het
Ifna13 A G 4: 88,562,228 (GRCm39) F132S probably benign Het
Irgm2 A G 11: 58,110,956 (GRCm39) M228V probably benign Het
Klhl41 A G 2: 69,501,054 (GRCm39) M172V probably benign Het
Klk1 A T 7: 43,878,986 (GRCm39) N260I probably damaging Het
Krit1 G C 5: 3,859,642 (GRCm39) R110P probably damaging Het
Krt7 T A 15: 101,321,161 (GRCm39) probably null Het
Lrrn4cl T A 19: 8,829,468 (GRCm39) Y149N probably damaging Het
Ltbp3 G T 19: 5,801,899 (GRCm39) C739F possibly damaging Het
Mbnl2 C T 14: 120,626,486 (GRCm39) H239Y probably damaging Het
Obscn G A 11: 58,942,357 (GRCm39) R4942* probably null Het
Or2bd2 T C 7: 6,443,688 (GRCm39) L263P probably damaging Het
R3hcc1 A G 14: 69,944,111 (GRCm39) S45P probably damaging Het
Ryr1 A T 7: 28,785,356 (GRCm39) H1778Q possibly damaging Het
Scyl2 T A 10: 89,485,914 (GRCm39) K558N probably damaging Het
Shank1 G A 7: 43,991,586 (GRCm39) V677M unknown Het
Slc39a5 T C 10: 128,232,337 (GRCm39) M488V possibly damaging Het
Styk1 A T 6: 131,289,880 (GRCm39) probably null Het
Styxl2 T C 1: 165,927,680 (GRCm39) D644G probably benign Het
Usp32 A G 11: 84,908,565 (GRCm39) V1047A probably benign Het
Wnt3a G T 11: 59,140,470 (GRCm39) H349N probably damaging Het
Zbtb39 T C 10: 127,579,423 (GRCm39) C666R probably damaging Het
Zfp420 T C 7: 29,575,427 (GRCm39) M549T probably benign Het
Other mutations in Cage1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Cage1 APN 13 38,206,969 (GRCm39) nonsense probably null
IGL01736:Cage1 APN 13 38,206,789 (GRCm39) missense possibly damaging 0.93
IGL02149:Cage1 APN 13 38,206,505 (GRCm39) missense probably damaging 1.00
IGL02267:Cage1 APN 13 38,207,233 (GRCm39) missense probably damaging 1.00
IGL03030:Cage1 APN 13 38,212,123 (GRCm39) missense probably benign
IGL03216:Cage1 APN 13 38,190,153 (GRCm39) splice site probably benign
R0487:Cage1 UTSW 13 38,209,334 (GRCm39) missense probably benign 0.00
R0606:Cage1 UTSW 13 38,200,470 (GRCm39) splice site probably benign
R1015:Cage1 UTSW 13 38,200,451 (GRCm39) missense possibly damaging 0.96
R1170:Cage1 UTSW 13 38,206,856 (GRCm39) missense probably damaging 1.00
R1400:Cage1 UTSW 13 38,216,400 (GRCm39) missense possibly damaging 0.86
R1721:Cage1 UTSW 13 38,207,309 (GRCm39) nonsense probably null
R2057:Cage1 UTSW 13 38,207,356 (GRCm39) missense probably benign 0.04
R2058:Cage1 UTSW 13 38,207,356 (GRCm39) missense probably benign 0.04
R2059:Cage1 UTSW 13 38,207,356 (GRCm39) missense probably benign 0.04
R2197:Cage1 UTSW 13 38,207,029 (GRCm39) missense probably damaging 1.00
R3757:Cage1 UTSW 13 38,209,705 (GRCm39) missense possibly damaging 0.71
R3758:Cage1 UTSW 13 38,209,705 (GRCm39) missense possibly damaging 0.71
R4370:Cage1 UTSW 13 38,209,626 (GRCm39) missense probably damaging 1.00
R4401:Cage1 UTSW 13 38,207,078 (GRCm39) missense probably damaging 1.00
R4402:Cage1 UTSW 13 38,207,078 (GRCm39) missense probably damaging 1.00
R4403:Cage1 UTSW 13 38,207,078 (GRCm39) missense probably damaging 1.00
R4490:Cage1 UTSW 13 38,207,393 (GRCm39) missense possibly damaging 0.86
R4621:Cage1 UTSW 13 38,209,477 (GRCm39) missense possibly damaging 0.85
R4921:Cage1 UTSW 13 38,203,184 (GRCm39) missense probably benign 0.33
R4950:Cage1 UTSW 13 38,207,302 (GRCm39) missense possibly damaging 0.55
R4953:Cage1 UTSW 13 38,207,406 (GRCm39) missense possibly damaging 0.51
R5023:Cage1 UTSW 13 38,195,387 (GRCm39) nonsense probably null
R5808:Cage1 UTSW 13 38,206,301 (GRCm39) unclassified probably benign
R5845:Cage1 UTSW 13 38,199,682 (GRCm39) missense probably damaging 0.96
R6278:Cage1 UTSW 13 38,200,395 (GRCm39) missense possibly damaging 0.53
R6503:Cage1 UTSW 13 38,209,425 (GRCm39) missense possibly damaging 0.73
R6882:Cage1 UTSW 13 38,206,534 (GRCm39) missense probably damaging 1.00
R7146:Cage1 UTSW 13 38,207,025 (GRCm39) missense probably benign 0.03
R7192:Cage1 UTSW 13 38,203,220 (GRCm39) missense probably benign
R7529:Cage1 UTSW 13 38,209,731 (GRCm39) missense possibly damaging 0.71
R7580:Cage1 UTSW 13 38,206,700 (GRCm39) missense possibly damaging 0.90
R7646:Cage1 UTSW 13 38,206,823 (GRCm39) missense probably damaging 1.00
R7837:Cage1 UTSW 13 38,206,381 (GRCm39) missense not run
R8355:Cage1 UTSW 13 38,203,225 (GRCm39) missense probably damaging 0.99
R8435:Cage1 UTSW 13 38,203,161 (GRCm39) missense possibly damaging 0.73
R8466:Cage1 UTSW 13 38,206,987 (GRCm39) missense probably damaging 1.00
R9047:Cage1 UTSW 13 38,201,338 (GRCm39) missense possibly damaging 0.85
R9086:Cage1 UTSW 13 38,206,898 (GRCm39) missense probably damaging 1.00
R9146:Cage1 UTSW 13 38,207,005 (GRCm39) missense probably benign 0.16
R9442:Cage1 UTSW 13 38,196,447 (GRCm39) missense possibly damaging 0.72
R9587:Cage1 UTSW 13 38,207,233 (GRCm39) missense probably damaging 1.00
R9608:Cage1 UTSW 13 38,195,371 (GRCm39) missense possibly damaging 0.73
R9612:Cage1 UTSW 13 38,216,351 (GRCm39) missense probably damaging 0.99
R9630:Cage1 UTSW 13 38,206,855 (GRCm39) missense probably damaging 1.00
R9690:Cage1 UTSW 13 38,203,141 (GRCm39) critical splice donor site probably null
R9736:Cage1 UTSW 13 38,207,393 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGAACATCAAAGATAAGCAGCTCG -3'
(R):5'- GCTTTAAGATAGTGTTTCACCAGTG -3'

Sequencing Primer
(F):5'- TAAGCAGCTCGAAGCCTG -3'
(R):5'- AACACTAACTTGGGTCCTTTGAC -3'
Posted On 2015-04-30