Incidental Mutation 'IGL01958:Kat14'
ID 181478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kat14
Ensembl Gene ENSMUSG00000027425
Gene Name lysine acetyltransferase 14
Synonyms Csrp2bp, 2510008M08Rik, ATAC2, D2Ertd473e, D2Wsu131e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01958
Quality Score
Status
Chromosome 2
Chromosomal Location 144210952-144249595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144236285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 339 (L339P)
Ref Sequence ENSEMBL: ENSMUSP00000130785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028911] [ENSMUST00000147747]
AlphaFold Q8CID0
Predicted Effect probably damaging
Transcript: ENSMUST00000028911
AA Change: L550P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: L550P

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
low complexity region 310 334 N/A INTRINSIC
Pfam:Acetyltransf_10 640 748 7e-12 PFAM
Pfam:Acetyltransf_7 670 750 5.8e-12 PFAM
Pfam:Acetyltransf_1 675 749 7.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143318
Predicted Effect probably damaging
Transcript: ENSMUST00000147747
AA Change: L339P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: L339P

DomainStartEndE-ValueType
low complexity region 99 123 N/A INTRINSIC
Pfam:Acetyltransf_10 428 537 6.3e-12 PFAM
Pfam:Acetyltransf_7 458 539 5.7e-12 PFAM
Pfam:Acetyltransf_1 464 538 3.1e-12 PFAM
Pfam:FR47 479 544 2.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156410
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, decreased size, increased apoptosis, and disrupted cell cycling. Mice heterozygous for one targeted allele exhibit corneal opacity. [provided by MGI curators]
Allele List at MGI

All alleles(54) : Targeted, other(1) Gene trapped(53)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign Het
Other mutations in Kat14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Kat14 APN 2 144,236,175 (GRCm39) missense probably benign 0.01
IGL01361:Kat14 APN 2 144,248,540 (GRCm39) splice site probably null
IGL02499:Kat14 APN 2 144,235,751 (GRCm39) missense probably benign 0.45
IGL02625:Kat14 APN 2 144,244,365 (GRCm39) missense possibly damaging 0.79
IGL02814:Kat14 APN 2 144,244,383 (GRCm39) missense probably benign
IGL02883:Kat14 APN 2 144,235,449 (GRCm39) missense probably damaging 1.00
IGL03114:Kat14 APN 2 144,217,885 (GRCm39) critical splice donor site probably null
A5278:Kat14 UTSW 2 144,235,227 (GRCm39) nonsense probably null
R1446:Kat14 UTSW 2 144,215,638 (GRCm39) missense probably damaging 1.00
R1517:Kat14 UTSW 2 144,215,711 (GRCm39) missense probably benign 0.00
R1589:Kat14 UTSW 2 144,236,020 (GRCm39) missense probably benign 0.06
R2071:Kat14 UTSW 2 144,231,136 (GRCm39) missense probably damaging 1.00
R3911:Kat14 UTSW 2 144,245,982 (GRCm39) missense probably damaging 1.00
R3951:Kat14 UTSW 2 144,249,249 (GRCm39) utr 3 prime probably benign
R4167:Kat14 UTSW 2 144,236,030 (GRCm39) missense probably damaging 1.00
R4624:Kat14 UTSW 2 144,246,140 (GRCm39) intron probably benign
R4628:Kat14 UTSW 2 144,246,140 (GRCm39) intron probably benign
R4629:Kat14 UTSW 2 144,246,140 (GRCm39) intron probably benign
R4944:Kat14 UTSW 2 144,217,873 (GRCm39) missense probably damaging 0.99
R5401:Kat14 UTSW 2 144,231,180 (GRCm39) missense possibly damaging 0.77
R5429:Kat14 UTSW 2 144,235,243 (GRCm39) missense probably benign 0.03
R7165:Kat14 UTSW 2 144,235,918 (GRCm39) missense probably benign 0.03
R7453:Kat14 UTSW 2 144,222,654 (GRCm39) missense possibly damaging 0.85
R7738:Kat14 UTSW 2 144,236,162 (GRCm39) missense probably damaging 1.00
R9130:Kat14 UTSW 2 144,215,742 (GRCm39) missense probably benign 0.30
R9260:Kat14 UTSW 2 144,235,441 (GRCm39) missense probably benign 0.02
R9450:Kat14 UTSW 2 144,242,739 (GRCm39) missense possibly damaging 0.94
R9457:Kat14 UTSW 2 144,215,702 (GRCm39) missense probably benign 0.02
R9480:Kat14 UTSW 2 144,215,745 (GRCm39) missense probably damaging 1.00
R9502:Kat14 UTSW 2 144,235,527 (GRCm39) missense probably damaging 1.00
X0018:Kat14 UTSW 2 144,215,777 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07