Incidental Mutation 'R2355:Kat7'
ID 246886
Institutional Source Beutler Lab
Gene Symbol Kat7
Ensembl Gene ENSMUSG00000038909
Gene Name K(lysine) acetyltransferase 7
Synonyms Hboa, Hbo1, Myst2
MMRRC Submission 040337-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2355 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 95165085-95201072 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95182407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 231 (I231R)
Ref Sequence ENSEMBL: ENSMUSP00000103362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072621] [ENSMUST00000092766] [ENSMUST00000103159] [ENSMUST00000107733] [ENSMUST00000107734]
AlphaFold Q5SVQ0
Predicted Effect probably benign
Transcript: ENSMUST00000072621
SMART Domains Protein: ENSMUSP00000072416
Gene: ENSMUSG00000038909

DomainStartEndE-ValueType
low complexity region 37 59 N/A INTRINSIC
low complexity region 136 147 N/A INTRINSIC
Pfam:zf-C2HC 184 214 3.2e-17 PFAM
ZnF_C2H2 338 364 1.86e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092766
AA Change: I233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090441
Gene: ENSMUSG00000038909
AA Change: I233R

DomainStartEndE-ValueType
low complexity region 37 59 N/A INTRINSIC
low complexity region 136 147 N/A INTRINSIC
Pfam:zf-C2HC 186 214 1.2e-16 PFAM
ZnF_C2H2 368 394 1.86e1 SMART
Pfam:MOZ_SAS 395 573 7.9e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103159
SMART Domains Protein: ENSMUSP00000099448
Gene: ENSMUSG00000038909

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 75 86 N/A INTRINSIC
Pfam:zf-C2HC 123 153 2.8e-17 PFAM
ZnF_C2H2 277 303 1.86e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107733
SMART Domains Protein: ENSMUSP00000103361
Gene: ENSMUSG00000038909

DomainStartEndE-ValueType
low complexity region 35 57 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
Pfam:zf-C2HC 182 212 2.3e-17 PFAM
ZnF_C2H2 336 362 1.86e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107734
AA Change: I231R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103362
Gene: ENSMUSG00000038909
AA Change: I231R

DomainStartEndE-ValueType
low complexity region 35 57 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
Pfam:zf-C2HC 182 212 2.5e-17 PFAM
ZnF_C2H2 366 392 1.86e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149356
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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 part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic growth arrest, incomplete embryo turning, disorganized yolk sac vascular plexus, and increased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 CGG CG 5: 124,215,368 (GRCm39) probably null Het
Ahcyl1 A G 3: 107,577,533 (GRCm39) S296P probably damaging Het
Alas1 A G 9: 106,113,673 (GRCm39) V524A probably damaging Het
Amn C A 12: 111,238,246 (GRCm39) D53E probably damaging Het
Bbof1 A G 12: 84,470,223 (GRCm39) E33G probably damaging Het
Ccdc149 T C 5: 52,578,114 (GRCm39) E106G probably damaging Het
Ceacam5 T A 7: 17,479,560 (GRCm39) S226T probably damaging Het
Chd7 G T 4: 8,801,350 (GRCm39) S698I possibly damaging Het
Chst2 A G 9: 95,288,148 (GRCm39) L66P probably damaging Het
Cps1 C T 1: 67,195,383 (GRCm39) P268L probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp3a59 A T 5: 146,036,622 (GRCm39) M275L probably benign Het
Ddx41 T G 13: 55,682,113 (GRCm39) M232L probably benign Het
Dnah6 C A 6: 73,133,404 (GRCm39) A1068S possibly damaging Het
Dnah7a T C 1: 53,621,661 (GRCm39) I1155V probably benign Het
Dop1b G A 16: 93,567,565 (GRCm39) V611I probably damaging Het
Epyc A G 10: 97,512,875 (GRCm39) Y243C probably damaging Het
Fam171a1 C T 2: 3,226,570 (GRCm39) Q568* probably null Het
Gm5930 A G 14: 44,573,918 (GRCm39) S105P probably damaging Het
Golga4 A G 9: 118,389,810 (GRCm39) D2032G probably benign Het
Gps2 AGTGCT A 11: 69,806,207 (GRCm39) probably null Het
H2-DMb1 A G 17: 34,376,289 (GRCm39) Y136C probably damaging Het
Il12b A G 11: 44,301,039 (GRCm39) E185G probably benign Het
Kcmf1 A T 6: 72,827,466 (GRCm39) I58N probably damaging Het
Lmf2 A T 15: 89,235,966 (GRCm39) V646E possibly damaging Het
Lmo7 A G 14: 102,126,121 (GRCm39) Q409R probably damaging Het
Lmod1 T A 1: 135,292,253 (GRCm39) H369Q probably benign Het
M1ap G A 6: 82,933,484 (GRCm39) A13T probably benign Het
Mapk8ip2 G T 15: 89,343,168 (GRCm39) V637L probably benign Het
Mettl25 C A 10: 105,599,316 (GRCm39) V570L probably benign Het
Mfsd1 T A 3: 67,508,668 (GRCm39) N449K probably damaging Het
Or56a5 A T 7: 104,793,020 (GRCm39) M166K probably benign Het
Or5b24 T C 19: 12,912,383 (GRCm39) S94P possibly damaging Het
Or5d18 T A 2: 87,865,379 (GRCm39) I35F probably damaging Het
Or6c209 G A 10: 129,483,711 (GRCm39) C238Y probably benign Het
Pcdhb5 T A 18: 37,455,169 (GRCm39) S516R probably benign Het
Plppr3 C T 10: 79,701,194 (GRCm39) M549I possibly damaging Het
Ppl A G 16: 4,912,361 (GRCm39) V740A probably benign Het
Rabgef1 C T 5: 130,240,928 (GRCm39) T349M probably benign Het
Rad51ap2 T C 12: 11,507,109 (GRCm39) C344R probably benign Het
Shank2 A G 7: 143,611,455 (GRCm39) Q172R possibly damaging Het
Smg9 G A 7: 24,119,546 (GRCm39) probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trim42 A T 9: 97,241,293 (GRCm39) N646K probably damaging Het
Usp32 T C 11: 84,896,735 (GRCm39) I1181V probably benign Het
Vwa5b1 C A 4: 138,319,221 (GRCm39) probably null Het
Other mutations in Kat7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Kat7 APN 11 95,196,959 (GRCm39) missense probably benign 0.01
IGL03287:Kat7 APN 11 95,190,935 (GRCm39) missense probably damaging 1.00
R0047:Kat7 UTSW 11 95,191,034 (GRCm39) missense probably benign 0.07
R0578:Kat7 UTSW 11 95,182,350 (GRCm39) missense probably benign 0.00
R1739:Kat7 UTSW 11 95,167,373 (GRCm39) missense possibly damaging 0.85
R2038:Kat7 UTSW 11 95,190,928 (GRCm39) missense probably benign 0.14
R2115:Kat7 UTSW 11 95,194,120 (GRCm39) missense probably benign 0.10
R2214:Kat7 UTSW 11 95,166,631 (GRCm39) missense probably damaging 0.99
R3425:Kat7 UTSW 11 95,193,991 (GRCm39) missense probably damaging 1.00
R3775:Kat7 UTSW 11 95,182,357 (GRCm39) missense probably benign 0.00
R3811:Kat7 UTSW 11 95,182,441 (GRCm39) splice site probably benign
R4066:Kat7 UTSW 11 95,174,967 (GRCm39) missense possibly damaging 0.93
R4169:Kat7 UTSW 11 95,171,298 (GRCm39) missense probably damaging 0.99
R4657:Kat7 UTSW 11 95,168,424 (GRCm39) missense probably damaging 1.00
R4814:Kat7 UTSW 11 95,193,949 (GRCm39) splice site probably benign
R5186:Kat7 UTSW 11 95,177,242 (GRCm39) missense probably benign 0.00
R6015:Kat7 UTSW 11 95,174,860 (GRCm39) missense probably damaging 1.00
R6820:Kat7 UTSW 11 95,174,965 (GRCm39) missense probably damaging 1.00
R6894:Kat7 UTSW 11 95,174,910 (GRCm39) missense possibly damaging 0.86
R7192:Kat7 UTSW 11 95,166,656 (GRCm39) missense probably benign 0.00
R7217:Kat7 UTSW 11 95,182,390 (GRCm39) missense possibly damaging 0.79
R7728:Kat7 UTSW 11 95,190,907 (GRCm39) missense probably benign 0.25
R7999:Kat7 UTSW 11 95,174,935 (GRCm39) missense probably damaging 1.00
R8230:Kat7 UTSW 11 95,168,415 (GRCm39) missense probably damaging 1.00
R8747:Kat7 UTSW 11 95,185,392 (GRCm39) missense probably damaging 1.00
R8929:Kat7 UTSW 11 95,196,982 (GRCm39) missense probably damaging 1.00
R9166:Kat7 UTSW 11 95,190,928 (GRCm39) missense probably benign
R9239:Kat7 UTSW 11 95,197,020 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- TTGATTTGTCCTGGAAACCAAAGG -3'
(R):5'- TAGTGGCCAAGATAGCACTGTG -3'

Sequencing Primer
(F):5'- GCATGGACTTGCCTATGAAGAC -3'
(R):5'- CCAAGATAGCACTGTGTGGGG -3'
Posted On 2014-10-30