Incidental Mutation 'R9002:C1d'
ID 685042
Institutional Source Beutler Lab
Gene Symbol C1d
Ensembl Gene ENSMUSG00000000581
Gene Name C1D nuclear receptor co-repressor
Synonyms SUN-CoR, 1110036E10Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.609) question?
Stock # R9002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 17207579-17219176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17212787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 44 (L44S)
Ref Sequence ENSEMBL: ENSMUSP00000000594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000594] [ENSMUST00000156784]
AlphaFold O35473
Predicted Effect probably damaging
Transcript: ENSMUST00000000594
AA Change: L44S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000594
Gene: ENSMUSG00000000581
AA Change: L44S

DomainStartEndE-ValueType
Pfam:Sas10_Utp3 12 96 4.7e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156784
AA Change: L44S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121134
Gene: ENSMUSG00000000581
AA Change: L44S

DomainStartEndE-ValueType
Pfam:Sas10_Utp3 12 96 3.2e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,241,926 (GRCm39) M1263K possibly damaging Het
Abca8b C T 11: 109,843,456 (GRCm39) D985N probably benign Het
Ak5 A T 3: 152,359,091 (GRCm39) M207K probably damaging Het
Akt1 T C 12: 112,626,048 (GRCm39) I75V probably benign Het
Ank T A 15: 27,544,413 (GRCm39) L58* probably null Het
Ap1g1 A C 8: 110,581,738 (GRCm39) T666P probably benign Het
Ap3b2 A T 7: 81,117,192 (GRCm39) S615T probably benign Het
Ash1l G T 3: 88,888,715 (GRCm39) R198L probably benign Het
Axl A T 7: 25,478,103 (GRCm39) C199S probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Col4a4 A G 1: 82,449,032 (GRCm39) L1186P probably benign Het
Ctdsp2 T A 10: 126,832,061 (GRCm39) I223N probably damaging Het
Efcab3 A T 11: 104,920,822 (GRCm39) D4671V probably damaging Het
Eml1 T A 12: 108,504,438 (GRCm39) I799N probably damaging Het
Fbxw18 G A 9: 109,519,660 (GRCm39) T282I probably damaging Het
Fmo2 A T 1: 162,705,647 (GRCm39) C397* probably null Het
Gbp10 C A 5: 105,369,847 (GRCm39) V262L probably benign Het
Gm45871 A T 18: 90,609,968 (GRCm39) H402L probably damaging Het
Has1 T C 17: 18,063,912 (GRCm39) S576G unknown Het
Hat1 C T 2: 71,271,647 (GRCm39) R407W probably damaging Het
Hivep2 G T 10: 14,008,157 (GRCm39) R1585L probably benign Het
Ifi211 A G 1: 173,733,894 (GRCm39) V89A possibly damaging Het
Igkv4-59 T C 6: 69,415,475 (GRCm39) T27A possibly damaging Het
Irf9 T A 14: 55,845,140 (GRCm39) N333K possibly damaging Het
Jakmip2 C T 18: 43,715,323 (GRCm39) V68I probably benign Het
Kif1b T G 4: 149,275,712 (GRCm39) I1400L probably damaging Het
Kif2b C T 11: 91,467,053 (GRCm39) C410Y probably benign Het
Klk1b16 T C 7: 43,790,189 (GRCm39) L153P possibly damaging Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lama5 A G 2: 179,838,311 (GRCm39) C855R probably damaging Het
Mast3 A G 8: 71,233,904 (GRCm39) L947P probably damaging Het
Mblac2 C A 13: 81,860,072 (GRCm39) A142E possibly damaging Het
Mppe1 A G 18: 67,358,925 (GRCm39) S348P possibly damaging Het
Mroh8 A C 2: 157,058,939 (GRCm39) V909G probably damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek10 T C 14: 14,980,590 (GRCm38) L982P probably damaging Het
Nlrp4b C T 7: 10,448,886 (GRCm39) T363I probably damaging Het
Nol10 A G 12: 17,408,134 (GRCm39) E120G probably damaging Het
Olfml1 T C 7: 107,189,423 (GRCm39) S163P probably damaging Het
Or2n1c A T 17: 38,519,555 (GRCm39) N140Y probably benign Het
Or51a7 A T 7: 102,614,618 (GRCm39) I104F probably damaging Het
Or6ae1 T C 7: 139,742,198 (GRCm39) I222V probably damaging Het
Or8b43 T A 9: 38,360,171 (GRCm39) M1K probably null Het
Or8i2 T C 2: 86,852,241 (GRCm39) T216A probably benign Het
Pde6a T A 18: 61,419,060 (GRCm39) L812Q probably damaging Het
Pdxp T A 15: 78,802,459 (GRCm39) M231K probably damaging Het
Pi4ka A G 16: 17,117,317 (GRCm39) L1368P Het
Ppie T C 4: 123,024,344 (GRCm39) N171S possibly damaging Het
Rimbp2 T C 5: 128,865,356 (GRCm39) H657R probably benign Het
Sarnp T A 10: 128,657,842 (GRCm39) probably null Het
Serpinb9c T C 13: 33,334,329 (GRCm39) T266A probably damaging Het
Srgap3 T A 6: 112,757,854 (GRCm39) I218F possibly damaging Het
Susd1 C A 4: 59,324,882 (GRCm39) W717L probably benign Het
Tgfbi A G 13: 56,771,402 (GRCm39) Y88C probably damaging Het
Tmc6 A T 11: 117,661,308 (GRCm39) F624Y probably damaging Het
Tnni2 A G 7: 141,998,013 (GRCm39) E172G probably damaging Het
Traf3ip1 T C 1: 91,433,178 (GRCm39) S316P probably benign Het
Tshr C A 12: 91,504,548 (GRCm39) N495K possibly damaging Het
Ulk3 C A 9: 57,500,542 (GRCm39) A317E probably damaging Het
Usp24 T C 4: 106,275,412 (GRCm39) V2229A possibly damaging Het
Usp32 G A 11: 84,944,777 (GRCm39) R304C probably damaging Het
Usp40 C T 1: 87,935,063 (GRCm39) G28D probably benign Het
Vmn1r41 A G 6: 89,724,109 (GRCm39) K217E possibly damaging Het
Vmn2r73 T A 7: 85,507,284 (GRCm39) K676M probably benign Het
Vnn1 A G 10: 23,775,349 (GRCm39) T200A possibly damaging Het
Zc3hav1 A G 6: 38,302,176 (GRCm39) L698P possibly damaging Het
Other mutations in C1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4131:C1d UTSW 11 17,214,054 (GRCm39) intron probably benign
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
Predicted Primers PCR Primer
(F):5'- TCCTCTGGACTTGCATGCTAAG -3'
(R):5'- AAGTCAAGTCCCCATGCAG -3'

Sequencing Primer
(F):5'- GGACTTGCATGCTAAGATTCACTGAC -3'
(R):5'- AGTCCCCATGCAGAAGCTTTGTAG -3'
Posted On 2021-10-11