Incidental Mutation 'IGL02172:Chordc1'
ID282947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chordc1
Ensembl Gene ENSMUSG00000001774
Gene Namecysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1
SynonymsChp-1, 1110001O09Rik, morgana
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02172
Quality Score
Status
Chromosome9
Chromosomal Location18292125-18317442 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18302092 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 80 (T80A)
Ref Sequence ENSEMBL: ENSMUSP00000150527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001825] [ENSMUST00000213605] [ENSMUST00000216800] [ENSMUST00000217031] [ENSMUST00000217083]
Predicted Effect probably benign
Transcript: ENSMUST00000001825
AA Change: T80A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000001825
Gene: ENSMUSG00000001774
AA Change: T80A

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
AA Change: T80A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216666
Predicted Effect probably benign
Transcript: ENSMUST00000216800
AA Change: T80A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217031
AA Change: T80A

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217083
AA Change: T80A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,004,873 V3236A probably damaging Het
Abca12 A G 1: 71,302,658 V1048A probably benign Het
Adgre1 C T 17: 57,478,879 T875I probably damaging Het
Arhgef26 T C 3: 62,459,676 V810A probably benign Het
Atf1 T A 15: 100,254,441 V105E probably damaging Het
Bbs9 C T 9: 22,579,476 T300I possibly damaging Het
Brd7 G T 8: 88,351,824 H226Q probably benign Het
Cadps T C 14: 12,705,681 K238R probably damaging Het
Clca4a A T 3: 144,970,394 C126* probably null Het
Col24a1 A T 3: 145,314,962 T365S probably benign Het
Crb1 C T 1: 139,237,227 G1053D probably damaging Het
Creb3l4 A T 3: 90,242,775 S20T probably benign Het
Cyp2c67 C T 19: 39,649,002 C10Y possibly damaging Het
Dhdh A T 7: 45,475,617 C294S probably damaging Het
Fam135a A G 1: 24,024,780 probably null Het
Fsd1 G T 17: 55,990,244 probably benign Het
Gatad2b A G 3: 90,355,671 probably benign Het
Glb1l2 T C 9: 26,769,086 D232G probably damaging Het
Gm10553 T C 1: 85,100,294 L44P probably damaging Het
Hecw1 T C 13: 14,264,149 Y883C probably damaging Het
Helq A G 5: 100,790,147 F478L probably damaging Het
Ift172 T C 5: 31,281,337 probably benign Het
Krtcap3 A C 5: 31,252,053 T55P probably damaging Het
Megf6 A G 4: 154,270,692 D1488G probably damaging Het
Mrpl1 T C 5: 96,231,715 V203A probably damaging Het
Myh2 A T 11: 67,189,052 D1084V possibly damaging Het
Necap2 T A 4: 141,078,310 probably benign Het
Nemp1 A G 10: 127,692,999 S191G probably benign Het
Nrip1 T C 16: 76,291,492 D1059G probably damaging Het
Ntrk3 A T 7: 78,460,272 probably benign Het
Olfr558 G A 7: 102,709,844 R195H probably benign Het
Olfr583 A G 7: 103,051,375 I26V probably benign Het
Prkdc T G 16: 15,809,759 V3427G probably benign Het
Ptprn2 A T 12: 116,873,697 probably benign Het
Ptprt A T 2: 161,555,502 L1095H probably damaging Het
Ren1 T A 1: 133,359,033 L300Q possibly damaging Het
Rgl3 A G 9: 21,976,838 I460T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 Q265P probably benign Het
Sh3d21 A G 4: 126,152,360 S282P probably benign Het
Slc39a13 T C 2: 91,063,160 E318G possibly damaging Het
Srd5a3 T C 5: 76,147,709 I82T probably benign Het
Stard7 C A 2: 127,290,872 T220N probably damaging Het
Tbx4 G A 11: 85,914,563 G493R possibly damaging Het
Trerf1 A T 17: 47,317,817 noncoding transcript Het
Trim59 T A 3: 69,037,477 I177L probably benign Het
Trpm7 T C 2: 126,795,328 M1789V possibly damaging Het
Tsc22d1 T C 14: 76,417,692 V455A probably benign Het
Vmn2r118 C A 17: 55,624,598 M25I probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr90 G A 17: 25,850,434 T1233I probably benign Het
Zcchc2 G A 1: 106,000,934 D308N probably benign Het
Zfp57 G T 17: 37,009,589 V112L possibly damaging Het
Zfp874b A T 13: 67,474,016 Y388N probably damaging Het
Other mutations in Chordc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03155:Chordc1 APN 9 18304320 missense possibly damaging 0.88
IGL03343:Chordc1 APN 9 18312466 missense probably damaging 0.98
garner UTSW 9 18295332 missense probably damaging 1.00
R1830:Chordc1 UTSW 9 18311978 missense probably damaging 1.00
R2299:Chordc1 UTSW 9 18302108 missense probably damaging 0.99
R4797:Chordc1 UTSW 9 18292376 unclassified probably benign
R4808:Chordc1 UTSW 9 18292413 missense probably damaging 1.00
R5086:Chordc1 UTSW 9 18312835 missense probably benign 0.00
R5667:Chordc1 UTSW 9 18295332 missense probably damaging 1.00
R5929:Chordc1 UTSW 9 18304362 missense possibly damaging 0.86
Posted On2015-04-16