Incidental Mutation 'R5728:Chtop'
ID 452592
Institutional Source Beutler Lab
Gene Symbol Chtop
Ensembl Gene ENSMUSG00000001017
Gene Name chromatin target of PRMT1
Synonyms Fop, 2500003M10Rik, friend of Prmt1
MMRRC Submission 043345-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5728 (G1)
Quality Score 210
Status Not validated
Chromosome 3
Chromosomal Location 90406263-90416805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90407399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 187 (G187D)
Ref Sequence ENSEMBL: ENSMUSP00000061800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001043] [ENSMUST00000049937] [ENSMUST00000076639] [ENSMUST00000107342] [ENSMUST00000107343] [ENSMUST00000107344] [ENSMUST00000107346] [ENSMUST00000131868] [ENSMUST00000146740]
AlphaFold Q9CY57
Predicted Effect probably damaging
Transcript: ENSMUST00000001043
AA Change: G162D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001043
Gene: ENSMUSG00000001017
AA Change: G162D

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 62 84 N/A INTRINSIC
low complexity region 86 106 N/A INTRINSIC
FoP_duplication 133 221 3.35e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000049937
AA Change: G187D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061800
Gene: ENSMUSG00000001017
AA Change: G187D

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
low complexity region 69 83 N/A INTRINSIC
low complexity region 87 109 N/A INTRINSIC
low complexity region 111 131 N/A INTRINSIC
FoP_duplication 158 246 3.35e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000076639
AA Change: G140D
SMART Domains Protein: ENSMUSP00000075936
Gene: ENSMUSG00000001017
AA Change: G140D

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
Blast:FoP_duplication 59 84 3e-6 BLAST
low complexity region 86 108 N/A INTRINSIC
FoP_duplication 114 199 1.21e-24 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107342
AA Change: G115D
SMART Domains Protein: ENSMUSP00000102965
Gene: ENSMUSG00000001017
AA Change: G115D

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Blast:FoP_duplication 34 59 3e-6 BLAST
low complexity region 61 83 N/A INTRINSIC
FoP_duplication 89 174 1.21e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107343
AA Change: G116D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102966
Gene: ENSMUSG00000001017
AA Change: G116D

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 62 84 N/A INTRINSIC
FoP_duplication 90 175 1.21e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107344
AA Change: G162D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102967
Gene: ENSMUSG00000001017
AA Change: G162D

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 62 84 N/A INTRINSIC
low complexity region 86 106 N/A INTRINSIC
FoP_duplication 133 221 3.35e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107346
AA Change: G141D
SMART Domains Protein: ENSMUSP00000102969
Gene: ENSMUSG00000001017
AA Change: G141D

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
low complexity region 69 83 N/A INTRINSIC
low complexity region 87 109 N/A INTRINSIC
FoP_duplication 115 200 1.21e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131868
SMART Domains Protein: ENSMUSP00000123448
Gene: ENSMUSG00000001017

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
low complexity region 69 83 N/A INTRINSIC
low complexity region 87 109 N/A INTRINSIC
low complexity region 111 122 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146740
SMART Domains Protein: ENSMUSP00000116945
Gene: ENSMUSG00000001017

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
low complexity region 115 137 N/A INTRINSIC
low complexity region 139 159 N/A INTRINSIC
low complexity region 177 195 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik T A 2: 103,953,213 (GRCm39) M13K possibly damaging Het
Abca13 T A 11: 9,520,576 (GRCm39) V4493D probably damaging Het
Ank1 A G 8: 23,612,783 (GRCm39) probably null Het
B4galnt4 A G 7: 140,650,488 (GRCm39) D785G probably benign Het
Cnih1 A G 14: 47,017,648 (GRCm39) F78S probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcun1d4 T C 5: 73,677,491 (GRCm39) F57L possibly damaging Het
Dgkz A G 2: 91,776,132 (GRCm39) S44P possibly damaging Het
Dhps A G 8: 85,799,964 (GRCm39) D138G probably damaging Het
Elp2 A G 18: 24,750,509 (GRCm39) E282G probably damaging Het
Exoc6b T C 6: 84,837,173 (GRCm39) Y342C probably damaging Het
Fasn A C 11: 120,704,339 (GRCm39) S1386A probably benign Het
Foxj3 A T 4: 119,430,959 (GRCm39) N111Y probably damaging Het
Gm5431 T C 11: 48,779,440 (GRCm39) E772G probably damaging Het
Gpbar1 A G 1: 74,318,216 (GRCm39) N153S probably damaging Het
Hspg2 T C 4: 137,270,077 (GRCm39) I2345T possibly damaging Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Lce1f A G 3: 92,626,652 (GRCm39) S2P unknown Het
Lrrk2 A G 15: 91,659,177 (GRCm39) D1863G probably benign Het
Lurap1 T C 4: 116,001,585 (GRCm39) E36G possibly damaging Het
Lysmd3 A G 13: 81,817,380 (GRCm39) E119G probably damaging Het
Map9 G A 3: 82,270,642 (GRCm39) V69I probably benign Het
Mfsd4b2 A C 10: 39,799,791 (GRCm39) F37C possibly damaging Het
Moxd1 A T 10: 24,099,581 (GRCm39) H27L possibly damaging Het
Myo15a A T 11: 60,379,722 (GRCm39) K1476N probably damaging Het
Mzf1 A G 7: 12,777,985 (GRCm39) I552T probably benign Het
Nfatc2 A G 2: 168,322,169 (GRCm39) V910A probably benign Het
Or52n2 C T 7: 104,542,436 (GRCm39) R133Q possibly damaging Het
Prss2 T C 6: 41,500,851 (GRCm39) V88A probably benign Het
Rhbdf1 A G 11: 32,159,901 (GRCm39) probably null Het
Slc10a4 A T 5: 73,169,677 (GRCm39) Q434L probably damaging Het
Slc4a3 A G 1: 75,526,484 (GRCm39) T2A probably benign Het
Sqor A G 2: 122,651,320 (GRCm39) *194W probably null Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tagap1 A G 17: 7,224,420 (GRCm39) V92A probably benign Het
Tiam2 A G 17: 3,465,231 (GRCm39) Y320C probably damaging Het
Toporsl T C 4: 52,611,469 (GRCm39) I454T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ubap1l T C 9: 65,276,570 (GRCm39) V24A probably benign Het
Unc13c A T 9: 73,466,238 (GRCm39) S1810T probably benign Het
Vmn1r56 A T 7: 5,199,122 (GRCm39) I165K probably benign Het
Wnt8b A G 19: 44,499,757 (GRCm39) T169A possibly damaging Het
Wrap73 T C 4: 154,239,099 (GRCm39) probably null Het
Wwc2 A G 8: 48,317,096 (GRCm39) I703T unknown Het
Zfp354a T A 11: 50,961,432 (GRCm39) C546S probably damaging Het
Other mutations in Chtop
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02739:Chtop APN 3 90,409,557 (GRCm39) missense possibly damaging 0.69
IGL02979:Chtop APN 3 90,407,402 (GRCm39) missense probably benign 0.04
R1672:Chtop UTSW 3 90,414,874 (GRCm39) missense probably damaging 0.99
R2163:Chtop UTSW 3 90,409,518 (GRCm39) missense probably benign 0.02
R5734:Chtop UTSW 3 90,409,422 (GRCm39) critical splice donor site probably null
R7082:Chtop UTSW 3 90,414,891 (GRCm39) missense probably benign
R7936:Chtop UTSW 3 90,414,658 (GRCm39) intron probably benign
R8140:Chtop UTSW 3 90,412,700 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGATGTGGTGACTTTAACAAGAGTC -3'
(R):5'- ATGTGCTGCTTTCTGCCCAG -3'

Sequencing Primer
(F):5'- CAGGCAGGCTTCAATCATTG -3'
(R):5'- GCCCCACAACTATAAAGGG -3'
Posted On 2017-01-03