Incidental Mutation 'R1345:Cypt4'
ID 156465
Institutional Source Beutler Lab
Gene Symbol Cypt4
Ensembl Gene ENSMUSG00000047995
Gene Name cysteine-rich perinuclear theca 4
Synonyms Ckt1r2, 1700009B20Rik
MMRRC Submission 039410-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1345 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 24536492-24537120 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24536515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 2 (T2A)
Ref Sequence ENSEMBL: ENSMUSP00000054958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053956] [ENSMUST00000133010]
AlphaFold Q6P925
Predicted Effect possibly damaging
Transcript: ENSMUST00000053956
AA Change: T2A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054958
Gene: ENSMUSG00000047995
AA Change: T2A

DomainStartEndE-ValueType
low complexity region 11 63 N/A INTRINSIC
low complexity region 77 86 N/A INTRINSIC
low complexity region 103 119 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133010
SMART Domains Protein: ENSMUSP00000132092
Gene: ENSMUSG00000085576

DomainStartEndE-ValueType
Pfam:Dpy19 129 772 3.1e-233 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 92.3%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,635,152 (GRCm39) V129I probably damaging Het
Akr1c18 T C 13: 4,195,213 (GRCm39) T82A possibly damaging Het
Alx1 A G 10: 102,864,353 (GRCm39) S39P possibly damaging Het
Atr A G 9: 95,802,408 (GRCm39) T1767A probably benign Het
Brf1 A T 12: 112,924,728 (GRCm39) probably null Het
Cd86 A G 16: 36,438,686 (GRCm39) probably null Het
Cdan1 A G 2: 120,549,620 (GRCm39) probably null Het
Cntln A G 4: 84,892,228 (GRCm39) D371G probably damaging Het
Dll1 G T 17: 15,593,817 (GRCm39) Y183* probably null Het
Dnmt1 G T 9: 20,819,814 (GRCm39) P1444Q probably damaging Het
Ern2 A G 7: 121,776,993 (GRCm39) L309P probably damaging Het
Fam151a A G 4: 106,599,491 (GRCm39) K142E probably damaging Het
Fbn1 T C 2: 125,156,591 (GRCm39) E2378G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kdm5b A C 1: 134,558,288 (GRCm39) T1432P possibly damaging Het
Kif2a G A 13: 107,130,423 (GRCm39) S15F probably damaging Het
Lzic A G 4: 149,571,308 (GRCm39) E31G probably damaging Het
Mmp16 A G 4: 18,112,021 (GRCm39) M466V probably benign Het
Mtm1 T C X: 70,330,837 (GRCm39) V203A probably benign Het
Muc21 T A 17: 35,932,489 (GRCm39) probably benign Het
Neurl4 A G 11: 69,794,702 (GRCm39) M249V probably benign Het
Or6c76b T C 10: 129,692,759 (GRCm39) I124T probably damaging Het
Plxna2 T C 1: 194,326,794 (GRCm39) Y243H probably damaging Het
Rbm44 A G 1: 91,080,481 (GRCm39) N223S probably damaging Het
Sel1l3 G T 5: 53,357,559 (GRCm39) H144Q possibly damaging Het
Simc1 A ANNNNNNNNNNNNNNNNNNNNN 13: 54,673,060 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,907,086 (GRCm39) probably benign Het
Spata31d1d T G 13: 59,873,838 (GRCm39) K1232N possibly damaging Het
Spink5 A T 18: 44,123,749 (GRCm39) E345D possibly damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tarbp1 T C 8: 127,175,069 (GRCm39) D789G probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmem232 T C 17: 65,757,401 (GRCm39) N264S possibly damaging Het
Trim43b G C 9: 88,967,725 (GRCm39) L303V possibly damaging Het
Tulp2 C A 7: 45,168,145 (GRCm39) R298S probably benign Het
Usp42 A G 5: 143,703,088 (GRCm39) V511A probably damaging Het
Vav1 A T 17: 57,608,214 (GRCm39) T321S probably benign Het
Vmn1r169 A C 7: 23,277,247 (GRCm39) H213P probably damaging Het
Vmn1r170 C T 7: 23,305,787 (GRCm39) T63I probably benign Het
Vmn2r103 T G 17: 20,014,509 (GRCm39) W434G probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp7 T C 15: 76,774,908 (GRCm39) S317P probably damaging Het
Other mutations in Cypt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Cypt4 APN 9 24,536,952 (GRCm39) missense possibly damaging 0.82
PIT4453001:Cypt4 UTSW 9 24,536,770 (GRCm39) missense probably damaging 0.96
R4227:Cypt4 UTSW 9 24,536,788 (GRCm39) missense probably benign 0.01
R5385:Cypt4 UTSW 9 24,536,596 (GRCm39) missense possibly damaging 0.66
R5689:Cypt4 UTSW 9 24,536,542 (GRCm39) missense possibly damaging 0.83
R6800:Cypt4 UTSW 9 24,536,965 (GRCm39) missense probably benign 0.00
R7142:Cypt4 UTSW 9 24,536,740 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGTTTCAGCCACTCTTTAGCTGC -3'
(R):5'- AAAGGTTCAGTCGGTTCCGGTTC -3'

Sequencing Primer
(F):5'- GCCACTCTTTAGCTGCCTTTG -3'
(R):5'- CGAAGTTCAGTAGCACGCTTG -3'
Posted On 2014-02-11