Incidental Mutation 'R4131:C1d'
ID 314684
Institutional Source Beutler Lab
Gene Symbol C1d
Ensembl Gene ENSMUSG00000000581
Gene Name C1D nuclear receptor co-repressor
Synonyms SUN-CoR, 1110036E10Rik
MMRRC Submission 040994-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R4131 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 17207579-17219176 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 17214054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000594] [ENSMUST00000156784]
AlphaFold O35473
Predicted Effect probably benign
Transcript: ENSMUST00000000594
SMART Domains Protein: ENSMUSP00000000594
Gene: ENSMUSG00000000581

DomainStartEndE-ValueType
Pfam:Sas10_Utp3 12 96 4.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135568
Predicted Effect probably benign
Transcript: ENSMUST00000156784
SMART Domains Protein: ENSMUSP00000121134
Gene: ENSMUSG00000000581

DomainStartEndE-ValueType
Pfam:Sas10_Utp3 12 96 3.2e-23 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Abca12 A G 1: 71,359,030 (GRCm39) probably null Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Art3 A T 5: 92,540,421 (GRCm39) M55L probably benign Het
Ces1c A G 8: 93,827,312 (GRCm39) M484T probably damaging Het
Cisd3 T C 11: 97,579,257 (GRCm39) V133A possibly damaging Het
Clpx A G 9: 65,223,937 (GRCm39) I230V possibly damaging Het
Cmklr1 C A 5: 113,752,545 (GRCm39) R152L probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Heca A G 10: 17,777,987 (GRCm39) S537P probably damaging Het
Igha C A 12: 113,222,449 (GRCm39) probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Klk1b3 T A 7: 43,851,111 (GRCm39) N181K probably damaging Het
Klra2 T A 6: 131,205,180 (GRCm39) R220S probably benign Het
Lama2 C T 10: 26,917,170 (GRCm39) V2252I probably benign Het
Megf10 G A 18: 57,313,607 (GRCm39) C17Y probably damaging Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or52n4b C G 7: 108,143,744 (GRCm39) S2* probably null Het
Or8b37 T A 9: 37,959,170 (GRCm39) Y217* probably null Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Phactr1 A T 13: 43,190,953 (GRCm39) Q141L probably damaging Het
Prelid2 T G 18: 42,084,224 (GRCm39) D6A possibly damaging Het
Psmd1 T C 1: 86,006,422 (GRCm39) S263P probably damaging Het
Rassf6 C T 5: 90,757,646 (GRCm39) D105N probably damaging Het
Ryr3 C T 2: 112,757,328 (GRCm39) probably null Het
Sema4g T A 19: 44,987,358 (GRCm39) F501L probably benign Het
Ssrp1 A G 2: 84,874,791 (GRCm39) E537G probably null Het
Try4 T A 6: 41,282,335 (GRCm39) Y218* probably null Het
Zbtb40 G T 4: 136,722,707 (GRCm39) S790R probably benign Het
Other mutations in C1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4623:C1d UTSW 11 17,212,742 (GRCm39) missense possibly damaging 0.70
R5022:C1d UTSW 11 17,216,674 (GRCm39) missense probably benign
R5023:C1d UTSW 11 17,216,674 (GRCm39) missense probably benign
R7575:C1d UTSW 11 17,212,694 (GRCm39) missense probably damaging 0.96
R8390:C1d UTSW 11 17,213,993 (GRCm39) missense probably damaging 0.99
R8443:C1d UTSW 11 17,213,662 (GRCm39) missense probably damaging 1.00
R9002:C1d UTSW 11 17,212,787 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCAACTTTCCTCTTGAATAACTAGG -3'
(R):5'- AGGTAGGAGAGAAATTTCCCCATCTC -3'

Sequencing Primer
(F):5'- GCGGTTTCTCTCTTACAGT -3'
(R):5'- TAGCCCTGGAGATGACT -3'
Posted On 2015-05-14