Incidental Mutation 'R6130:Ctla4'
ID 487070
Institutional Source Beutler Lab
Gene Symbol Ctla4
Ensembl Gene ENSMUSG00000026011
Gene Name cytotoxic T-lymphocyte-associated protein 4
Synonyms Ctla-4, Cd152, Ly-56
MMRRC Submission 044277-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R6130 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 60948184-60954991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60951650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 60 (Y60H)
Ref Sequence ENSEMBL: ENSMUSP00000095327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027164] [ENSMUST00000097720]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027164
AA Change: Y60H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027164
Gene: ENSMUSG00000026011
AA Change: Y60H

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IG 43 152 2.72e-5 SMART
transmembrane domain 162 184 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097720
AA Change: Y60H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095327
Gene: ENSMUSG00000026011
AA Change: Y60H

DomainStartEndE-ValueType
IG 43 152 2.72e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124816
Meta Mutation Damage Score 0.5680 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 96% (46/48)
MGI Phenotype FUNCTION: This gene is a member of the immunoglobulin superfamily, and encodes a protein that functions as a negative regulator of T-cell responses. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality at 3 to 4 weeks of age, decreased T cell numbers, abnormal T cell physiology, inflammation in mutliple organs, abnormal thymus morphology, and lymph node hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abi3 T A 11: 95,727,921 (GRCm39) E90V probably damaging Het
Adgrv1 A C 13: 81,575,864 (GRCm39) V4834G probably damaging Het
Aen A T 7: 78,552,387 (GRCm39) probably null Het
Ankrd55 A G 13: 112,454,980 (GRCm39) D26G probably damaging Het
Antxr2 T C 5: 98,152,131 (GRCm39) E160G possibly damaging Het
Auts2 T C 5: 131,469,061 (GRCm39) H528R probably damaging Het
Casd1 A G 6: 4,641,948 (GRCm39) T742A probably damaging Het
Ccdc39 T C 3: 33,895,341 (GRCm39) probably null Het
Dennd4b T C 3: 90,183,566 (GRCm39) L935P probably damaging Het
Dnah6 T A 6: 73,165,477 (GRCm39) T543S probably benign Het
Dnai3 A C 3: 145,748,559 (GRCm39) Y852D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fdxacb1 C T 9: 50,683,902 (GRCm39) R420* probably null Het
Flg A G 3: 93,200,023 (GRCm39) probably benign Het
Fpr1 T A 17: 18,097,897 (GRCm39) I31F probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gsta1 T A 9: 78,149,847 (GRCm39) F220Y probably damaging Het
Hmg20a T A 9: 56,395,891 (GRCm39) probably null Het
Igf2bp1 A C 11: 95,864,846 (GRCm39) L201R probably damaging Het
Jph3 G A 8: 122,479,826 (GRCm39) R168H probably damaging Het
Kif1a T A 1: 92,964,623 (GRCm39) I1318F probably damaging Het
Lamc2 T C 1: 153,012,523 (GRCm39) N717S probably benign Het
Lepr A T 4: 101,622,569 (GRCm39) S450C probably damaging Het
Muc16 A G 9: 18,501,994 (GRCm39) V6535A probably damaging Het
Myom3 A G 4: 135,489,882 (GRCm39) T18A probably benign Het
Nlrp5 A G 7: 23,103,598 (GRCm39) K22E probably benign Het
Obscn A C 11: 58,968,771 (GRCm39) S2534A possibly damaging Het
Or1j21 A T 2: 36,684,055 (GRCm39) D269V probably benign Het
Or2ak5 A G 11: 58,611,133 (GRCm39) V247A probably damaging Het
Pcdhga8 T A 18: 37,860,580 (GRCm39) N545K possibly damaging Het
Pcsk5 A T 19: 17,488,920 (GRCm39) Y967N probably damaging Het
Robo2 C T 16: 73,717,570 (GRCm39) G100S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Saxo4 G A 19: 10,455,128 (GRCm39) P233L probably benign Het
Scap A G 9: 110,209,447 (GRCm39) T707A possibly damaging Het
Scarf1 A G 11: 75,416,565 (GRCm39) Q669R probably benign Het
Scin T C 12: 40,119,435 (GRCm39) D531G probably benign Het
Sh2b3 T C 5: 121,953,626 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,155 (GRCm39) S657G probably benign Het
Stil T A 4: 114,887,058 (GRCm39) probably null Het
Syna T A 5: 134,587,122 (GRCm39) Q609L possibly damaging Het
Tmem59l A G 8: 70,937,255 (GRCm39) S271P probably damaging Het
Tns2 A G 15: 102,019,676 (GRCm39) E522G probably damaging Het
Trappc6a G A 7: 19,249,219 (GRCm39) A149T probably benign Het
Trim21 A T 7: 102,212,498 (GRCm39) L156H possibly damaging Het
Trpv3 A G 11: 73,187,309 (GRCm39) R714G possibly damaging Het
Zfp87 T A 13: 74,520,460 (GRCm39) Q206L possibly damaging Het
Other mutations in Ctla4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03169:Ctla4 APN 1 60,953,764 (GRCm39) splice site probably benign
complementary UTSW 1 60,951,650 (GRCm39) missense probably damaging 1.00
Congruent UTSW 1 60,951,695 (GRCm39) missense probably damaging 1.00
zesty UTSW 1 60,951,872 (GRCm39) missense probably benign 0.02
R0882:Ctla4 UTSW 1 60,948,397 (GRCm39) missense probably benign
R2513:Ctla4 UTSW 1 60,951,723 (GRCm39) missense probably damaging 1.00
R6291:Ctla4 UTSW 1 60,951,837 (GRCm39) missense probably benign
R6450:Ctla4 UTSW 1 60,951,872 (GRCm39) missense probably benign 0.02
R7686:Ctla4 UTSW 1 60,951,752 (GRCm39) missense probably benign
R8464:Ctla4 UTSW 1 60,951,686 (GRCm39) missense probably damaging 0.98
R9167:Ctla4 UTSW 1 60,951,695 (GRCm39) missense probably damaging 1.00
R9410:Ctla4 UTSW 1 60,951,911 (GRCm39) missense probably damaging 1.00
X0023:Ctla4 UTSW 1 60,951,702 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGAGCTTGCAGGAGTTCATC -3'
(R):5'- ATGAGTTCCACCTTGCAGAG -3'

Sequencing Primer
(F):5'- TCCAAGATGAACCTCCCCTGG -3'
(R):5'- AACAGCTCTCAGTCCTTGGATGG -3'
Posted On 2017-10-10