Incidental Mutation 'IGL03155:Chordc1'
ID 411239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chordc1
Ensembl Gene ENSMUSG00000001774
Gene Name cysteine and histidine rich domain containing 1
Synonyms 1110001O09Rik, morgana, Chp-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03155
Quality Score
Status
Chromosome 9
Chromosomal Location 18203563-18225296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18215616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 123 (S123T)
Ref Sequence ENSEMBL: ENSMUSP00000150527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001825] [ENSMUST00000213605] [ENSMUST00000216800] [ENSMUST00000217031] [ENSMUST00000217083]
AlphaFold Q9D1P4
Predicted Effect probably benign
Transcript: ENSMUST00000001825
AA Change: S123T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000001825
Gene: ENSMUSG00000001774
AA Change: S123T

DomainStartEndE-ValueType
Pfam:CHORD 3 64 3.4e-32 PFAM
low complexity region 67 89 N/A INTRINSIC
low complexity region 132 154 N/A INTRINSIC
Pfam:CHORD 155 216 4.5e-29 PFAM
Pfam:CS 230 306 4.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216666
Predicted Effect probably benign
Transcript: ENSMUST00000216800
Predicted Effect possibly damaging
Transcript: ENSMUST00000217031
AA Change: S123T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217083
AA Change: S123T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217524
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before somite formation with decreased proliferation and increased apoptosis of cultured inner cell masse cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d C T 2: 131,388,001 (GRCm39) R518H probably benign Het
Akr7a5 T A 4: 139,041,837 (GRCm39) C190* probably null Het
Cct2 A T 10: 116,896,576 (GRCm39) L209Q probably damaging Het
Crtap T C 9: 114,209,117 (GRCm39) D309G possibly damaging Het
Csf2 T C 11: 54,138,497 (GRCm39) T115A possibly damaging Het
Dgkb T A 12: 38,189,458 (GRCm39) I287N probably damaging Het
Dyrk1b G A 7: 27,882,112 (GRCm39) D98N probably benign Het
Eif4g1 T C 16: 20,511,167 (GRCm39) S1550P probably damaging Het
Fam83e A G 7: 45,376,499 (GRCm39) E404G possibly damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Fsip1 A T 2: 118,082,220 (GRCm39) N71K probably benign Het
Gm5092 A T 17: 21,314,970 (GRCm39) noncoding transcript Het
Gnb1l T A 16: 18,359,282 (GRCm39) probably null Het
Got1l1 T C 8: 27,689,360 (GRCm39) Y233C probably damaging Het
Katnbl1 T A 2: 112,239,577 (GRCm39) probably null Het
Kcnn2 A G 18: 45,818,382 (GRCm39) E493G probably damaging Het
Kif26b C T 1: 178,701,693 (GRCm39) R691W probably damaging Het
Lrp2 A T 2: 69,285,796 (GRCm39) probably benign Het
Mast3 A G 8: 71,241,861 (GRCm39) S107P probably damaging Het
Mrc1 A G 2: 14,335,912 (GRCm39) N1433D probably benign Het
Mycbp2 G A 14: 103,392,889 (GRCm39) S3114L probably benign Het
Naip6 T A 13: 100,452,932 (GRCm39) H43L possibly damaging Het
Nin A T 12: 70,078,544 (GRCm39) C1681S probably damaging Het
Nnmt C T 9: 48,503,352 (GRCm39) V225M probably damaging Het
Or2ag1b A T 7: 106,288,446 (GRCm39) M164K probably damaging Het
Or4c125 A T 2: 89,170,310 (GRCm39) M112K probably damaging Het
Phf21a T G 2: 92,150,611 (GRCm39) V64G probably damaging Het
Ptprd A T 4: 75,984,456 (GRCm39) S800R possibly damaging Het
Scarf2 C T 16: 17,625,413 (GRCm39) P823S probably benign Het
Scn5a T C 9: 119,341,248 (GRCm39) T1212A possibly damaging Het
Slc38a10 C T 11: 119,995,945 (GRCm39) V1043I probably damaging Het
Stxbp5 A T 10: 9,692,034 (GRCm39) L370Q probably null Het
Tas1r2 T C 4: 139,396,467 (GRCm39) V602A possibly damaging Het
Tatdn1 T C 15: 58,788,045 (GRCm39) probably benign Het
Tdrd6 A T 17: 43,936,398 (GRCm39) L1550Q probably damaging Het
Tet3 G T 6: 83,345,365 (GRCm39) R1556S probably damaging Het
Tnpo2 T A 8: 85,771,709 (GRCm39) I249N probably benign Het
Tnxb G T 17: 34,932,569 (GRCm39) V2263F probably damaging Het
Trim75 C T 8: 65,435,992 (GRCm39) V153M possibly damaging Het
Ttc21a T A 9: 119,773,042 (GRCm39) probably null Het
Tuft1 T A 3: 94,541,821 (GRCm39) I61L possibly damaging Het
Usp43 T C 11: 67,767,315 (GRCm39) D680G probably damaging Het
Vac14 A G 8: 111,362,975 (GRCm39) I274V possibly damaging Het
Vmn1r222 T A 13: 23,416,863 (GRCm39) R117W probably damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vmn2r43 T A 7: 8,258,068 (GRCm39) I382L possibly damaging Het
Vmn2r63 C T 7: 42,552,878 (GRCm39) V793I probably damaging Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Yeats2 T C 16: 20,048,323 (GRCm39) probably null Het
Other mutations in Chordc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Chordc1 APN 9 18,213,388 (GRCm39) missense possibly damaging 0.84
IGL03343:Chordc1 APN 9 18,223,762 (GRCm39) missense probably damaging 0.98
garner UTSW 9 18,206,628 (GRCm39) missense probably damaging 1.00
R1830:Chordc1 UTSW 9 18,223,274 (GRCm39) missense probably damaging 1.00
R2299:Chordc1 UTSW 9 18,213,404 (GRCm39) missense probably damaging 0.99
R4797:Chordc1 UTSW 9 18,203,672 (GRCm39) unclassified probably benign
R4808:Chordc1 UTSW 9 18,203,709 (GRCm39) missense probably damaging 1.00
R5086:Chordc1 UTSW 9 18,224,131 (GRCm39) missense probably benign 0.00
R5667:Chordc1 UTSW 9 18,206,628 (GRCm39) missense probably damaging 1.00
R5929:Chordc1 UTSW 9 18,215,658 (GRCm39) missense possibly damaging 0.86
R7212:Chordc1 UTSW 9 18,212,308 (GRCm39) missense probably damaging 1.00
R7212:Chordc1 UTSW 9 18,206,647 (GRCm39) critical splice donor site probably null
R7605:Chordc1 UTSW 9 18,215,668 (GRCm39) missense probably benign 0.01
R7726:Chordc1 UTSW 9 18,213,510 (GRCm39) makesense probably null
R7920:Chordc1 UTSW 9 18,213,397 (GRCm39) missense probably benign
R9213:Chordc1 UTSW 9 18,223,789 (GRCm39) critical splice donor site probably null
R9468:Chordc1 UTSW 9 18,213,425 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02